Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.236897020G>ACA345391211MTRc.3613G>A (p.Glu1205Lys)
n.4343G>A
c.3460G>A (p.Glu1154Lys)
c.*2655G>A (n.*2655G>A)
c.*2357G>A (n.*2357G>A)
c.3265G>A (p.Glu1089Lys)
n.6740G>A
c.3424G>A (p.Glu1142Lys)
n.6870G>A
c.3433G>A (p.Glu1145Lys)
c.3175G>A (p.Glu1059Lys)
n.3807G>A
c.2275G>A (p.Glu759Lys)
n.1225G>A
c.2392G>A (p.Glu798Lys)
c.3610G>A (p.Glu1204Lys)
c.2677G>A (p.Glu893Lys)
c.3781G>A (p.Glu1261Lys)
c.3628G>A (p.Glu1210Lys)
c.3592G>A (p.Glu1198Lys)
1g.236897020G>CCA345391213MTRc.3613G>C (p.Glu1205Gln)
n.4343G>C
c.3460G>C (p.Glu1154Gln)
c.*2655G>C (n.*2655G>C)
c.*2357G>C (n.*2357G>C)
c.3265G>C (p.Glu1089Gln)
n.6740G>C
c.3424G>C (p.Glu1142Gln)
n.6870G>C
c.3433G>C (p.Glu1145Gln)
c.3175G>C (p.Glu1059Gln)
n.3807G>C
c.2275G>C (p.Glu759Gln)
n.1225G>C
c.2392G>C (p.Glu798Gln)
c.3610G>C (p.Glu1204Gln)
c.2677G>C (p.Glu893Gln)
c.3781G>C (p.Glu1261Gln)
c.3628G>C (p.Glu1210Gln)
c.3592G>C (p.Glu1198Gln)
1g.236897020G=CA1141581448MTRc.3613G= (p.Glu1205=)
n.4343G=
c.3460G= (p.Glu1154=)
c.*2655G= (n.*2655G=)
c.*2357G= (n.*2357G=)
c.3265G= (p.Glu1089=)
n.6740G=
c.3424G= (p.Glu1142=)
n.6870G=
c.3433G= (p.Glu1145=)
c.3175G= (p.Glu1059=)
n.3807G=
c.2275G= (p.Glu759=)
n.1225G=
c.2392G= (p.Glu798=)
c.3610G= (p.Glu1204=)
c.2677G= (p.Glu893=)
c.3781G= (p.Glu1261=)
c.3628G= (p.Glu1210=)
c.3592G= (p.Glu1198=)
1g.236897020G>TCA257200MTRc.3613G>T (p.Glu1205Ter)
n.4343G>T
c.3460G>T (p.Glu1154Ter)
c.*2655G>T (n.*2655G>T)
c.*2357G>T (n.*2357G>T)
c.3265G>T (p.Glu1089Ter)
n.6740G>T
c.3424G>T (p.Glu1142Ter)
n.6870G>T
c.3433G>T (p.Glu1145Ter)
c.3175G>T (p.Glu1059Ter)
n.3807G>T
c.2275G>T (p.Glu759Ter)
n.1225G>T
c.2392G>T (p.Glu798Ter)
c.3610G>T (p.Glu1204Ter)
c.2677G>T (p.Glu893Ter)
c.3781G>T (p.Glu1261Ter)
c.3628G>T (p.Glu1210Ter)
c.3592G>T (p.Glu1198Ter)
 ClinVar dbSNP gnomAD v4
1g.236897021A=CA2487108647MTRc.3614A= (p.Glu1205=)
n.4344A=
c.3461A= (p.Glu1154=)
c.*2656A= (n.*2656A=)
c.*2358A= (n.*2358A=)
c.3266A= (p.Glu1089=)
n.6741A=
c.3425A= (p.Glu1142=)
n.6871A=
c.3434A= (p.Glu1145=)
c.3176A= (p.Glu1059=)
n.3808A=
c.2276A= (p.Glu759=)
n.1226A=
c.2393A= (p.Glu798=)
c.3611A= (p.Glu1204=)
c.2678A= (p.Glu893=)
c.3782A= (p.Glu1261=)
c.3629A= (p.Glu1210=)
c.3593A= (p.Glu1198=)
1g.236897021A>CCA345391222MTRc.3614A>C (p.Glu1205Ala)
n.4344A>C
c.3461A>C (p.Glu1154Ala)
c.*2656A>C (n.*2656A>C)
c.*2358A>C (n.*2358A>C)
c.3266A>C (p.Glu1089Ala)
n.6741A>C
c.3425A>C (p.Glu1142Ala)
n.6871A>C
c.3434A>C (p.Glu1145Ala)
c.3176A>C (p.Glu1059Ala)
n.3808A>C
c.2276A>C (p.Glu759Ala)
n.1226A>C
c.2393A>C (p.Glu798Ala)
c.3611A>C (p.Glu1204Ala)
c.2678A>C (p.Glu893Ala)
c.3782A>C (p.Glu1261Ala)
c.3629A>C (p.Glu1210Ala)
c.3593A>C (p.Glu1198Ala)
1g.236897021A>GCA345391225MTRc.3614A>G (p.Glu1205Gly)
n.4344A>G
c.3461A>G (p.Glu1154Gly)
c.*2656A>G (n.*2656A>G)
c.*2358A>G (n.*2358A>G)
c.3266A>G (p.Glu1089Gly)
n.6741A>G
c.3425A>G (p.Glu1142Gly)
n.6871A>G
c.3434A>G (p.Glu1145Gly)
c.3176A>G (p.Glu1059Gly)
n.3808A>G
c.2276A>G (p.Glu759Gly)
n.1226A>G
c.2393A>G (p.Glu798Gly)
c.3611A>G (p.Glu1204Gly)
c.2678A>G (p.Glu893Gly)
c.3782A>G (p.Glu1261Gly)
c.3629A>G (p.Glu1210Gly)
c.3593A>G (p.Glu1198Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.236897021A>TCA345391227MTRc.3614A>T (p.Glu1205Val)
n.4344A>T
c.3461A>T (p.Glu1154Val)
c.*2656A>T (n.*2656A>T)
c.*2358A>T (n.*2358A>T)
c.3266A>T (p.Glu1089Val)
n.6741A>T
c.3425A>T (p.Glu1142Val)
n.6871A>T
c.3434A>T (p.Glu1145Val)
c.3176A>T (p.Glu1059Val)
n.3808A>T
c.2276A>T (p.Glu759Val)
n.1226A>T
c.2393A>T (p.Glu798Val)
c.3611A>T (p.Glu1204Val)
c.2678A>T (p.Glu893Val)
c.3782A>T (p.Glu1261Val)
c.3629A>T (p.Glu1210Val)
c.3593A>T (p.Glu1198Val)
1g.236897022A>CCA345391232MTRc.3615A>C (p.Glu1205Asp)
n.4345A>C
c.3462A>C (p.Glu1154Asp)
c.*2657A>C (n.*2657A>C)
c.*2359A>C (n.*2359A>C)
c.3267A>C (p.Glu1089Asp)
n.6742A>C
c.3426A>C (p.Glu1142Asp)
n.6872A>C
c.3435A>C (p.Glu1145Asp)
c.3177A>C (p.Glu1059Asp)
n.3809A>C
c.2277A>C (p.Glu759Asp)
n.1227A>C
c.2394A>C (p.Glu798Asp)
c.3612A>C (p.Glu1204Asp)
c.2679A>C (p.Glu893Asp)
c.3783A>C (p.Glu1261Asp)
c.3630A>C (p.Glu1210Asp)
c.3594A>C (p.Glu1198Asp)
1g.236897022A>GCA423817882MTRc.3615A>G (p.Glu1205=)
n.4345A>G
c.3462A>G (p.Glu1154=)
c.*2657A>G (n.*2657A>G)
c.*2359A>G (n.*2359A>G)
c.3267A>G (p.Glu1089=)
n.6742A>G
c.3426A>G (p.Glu1142=)
n.6872A>G
c.3435A>G (p.Glu1145=)
c.3177A>G (p.Glu1059=)
n.3809A>G
c.2277A>G (p.Glu759=)
n.1227A>G
c.2394A>G (p.Glu798=)
c.3612A>G (p.Glu1204=)
c.2679A>G (p.Glu893=)
c.3783A>G (p.Glu1261=)
c.3630A>G (p.Glu1210=)
c.3594A>G (p.Glu1198=)
 gnomAD v4
1g.236897022A>TCA345391243MTRc.3615A>T (p.Glu1205Asp)
n.4345A>T
c.3462A>T (p.Glu1154Asp)
c.*2657A>T (n.*2657A>T)
c.*2359A>T (n.*2359A>T)
c.3267A>T (p.Glu1089Asp)
n.6742A>T
c.3426A>T (p.Glu1142Asp)
n.6872A>T
c.3435A>T (p.Glu1145Asp)
c.3177A>T (p.Glu1059Asp)
n.3809A>T
c.2277A>T (p.Glu759Asp)
n.1227A>T
c.2394A>T (p.Glu798Asp)
c.3612A>T (p.Glu1204Asp)
c.2679A>T (p.Glu893Asp)
c.3783A>T (p.Glu1261Asp)
c.3630A>T (p.Glu1210Asp)
c.3594A>T (p.Glu1198Asp)
1g.236897023T>ACA345391247MTRc.3616T>A (p.Ser1206Thr)
n.4346T>A
c.3463T>A (p.Ser1155Thr)
c.*2658T>A (n.*2658T>A)
c.*2360T>A (n.*2360T>A)
c.3268T>A (p.Ser1090Thr)
n.6743T>A
c.3427T>A (p.Ser1143Thr)
n.6873T>A
c.3436T>A (p.Ser1146Thr)
c.3178T>A (p.Ser1060Thr)
n.3810T>A
c.2278T>A (p.Ser760Thr)
n.1228T>A
c.2395T>A (p.Ser799Thr)
c.3613T>A (p.Ser1205Thr)
c.2680T>A (p.Ser894Thr)
c.3784T>A (p.Ser1262Thr)
c.3631T>A (p.Ser1211Thr)
c.3595T>A (p.Ser1199Thr)
1g.236897023T>CCA345391249MTRc.3616T>C (p.Ser1206Pro)
n.4346T>C
c.3463T>C (p.Ser1155Pro)
c.*2658T>C (n.*2658T>C)
c.*2360T>C (n.*2360T>C)
c.3268T>C (p.Ser1090Pro)
n.6743T>C
c.3427T>C (p.Ser1143Pro)
n.6873T>C
c.3436T>C (p.Ser1146Pro)
c.3178T>C (p.Ser1060Pro)
n.3810T>C
c.2278T>C (p.Ser760Pro)
n.1228T>C
c.2395T>C (p.Ser799Pro)
c.3613T>C (p.Ser1205Pro)
c.2680T>C (p.Ser894Pro)
c.3784T>C (p.Ser1262Pro)
c.3631T>C (p.Ser1211Pro)
c.3595T>C (p.Ser1199Pro)
1g.236897023T>GCA345391256MTRc.3616T>G (p.Ser1206Ala)
n.4346T>G
c.3463T>G (p.Ser1155Ala)
c.*2658T>G (n.*2658T>G)
c.*2360T>G (n.*2360T>G)
c.3268T>G (p.Ser1090Ala)
n.6743T>G
c.3427T>G (p.Ser1143Ala)
n.6873T>G
c.3436T>G (p.Ser1146Ala)
c.3178T>G (p.Ser1060Ala)
n.3810T>G
c.2278T>G (p.Ser760Ala)
n.1228T>G
c.2395T>G (p.Ser799Ala)
c.3613T>G (p.Ser1205Ala)
c.2680T>G (p.Ser894Ala)
c.3784T>G (p.Ser1262Ala)
c.3631T>G (p.Ser1211Ala)
c.3595T>G (p.Ser1199Ala)
1g.236897024C>ACA345391259MTRc.3617C>A (p.Ser1206Ter)
n.4347C>A
c.3464C>A (p.Ser1155Ter)
c.*2659C>A (n.*2659C>A)
c.*2361C>A (n.*2361C>A)
c.3269C>A (p.Ser1090Ter)
n.6744C>A
c.3428C>A (p.Ser1143Ter)
n.6874C>A
c.3437C>A (p.Ser1146Ter)
c.3179C>A (p.Ser1060Ter)
n.3811C>A
c.2279C>A (p.Ser760Ter)
n.1229C>A
c.2396C>A (p.Ser799Ter)
c.3614C>A (p.Ser1205Ter)
c.2681C>A (p.Ser894Ter)
c.3785C>A (p.Ser1262Ter)
c.3632C>A (p.Ser1211Ter)
c.3596C>A (p.Ser1199Ter)
1g.236897024C=CA2487108648MTRc.3617C= (p.Ser1206=)
n.4347C=
c.3464C= (p.Ser1155=)
c.*2659C= (n.*2659C=)
c.*2361C= (n.*2361C=)
c.3269C= (p.Ser1090=)
n.6744C=
c.3428C= (p.Ser1143=)
n.6874C=
c.3437C= (p.Ser1146=)
c.3179C= (p.Ser1060=)
n.3811C=
c.2279C= (p.Ser760=)
n.1229C=
c.2396C= (p.Ser799=)
c.3614C= (p.Ser1205=)
c.2681C= (p.Ser894=)
c.3785C= (p.Ser1262=)
c.3632C= (p.Ser1211=)
c.3596C= (p.Ser1199=)
1g.236897024C>GCA1474759MTRc.3617C>G (p.Ser1206Ter)
n.4347C>G
c.3464C>G (p.Ser1155Ter)
c.*2659C>G (n.*2659C>G)
c.*2361C>G (n.*2361C>G)
c.3269C>G (p.Ser1090Ter)
n.6744C>G
c.3428C>G (p.Ser1143Ter)
n.6874C>G
c.3437C>G (p.Ser1146Ter)
c.3179C>G (p.Ser1060Ter)
n.3811C>G
c.2279C>G (p.Ser760Ter)
n.1229C>G
c.2396C>G (p.Ser799Ter)
c.3614C>G (p.Ser1205Ter)
c.2681C>G (p.Ser894Ter)
c.3785C>G (p.Ser1262Ter)
c.3632C>G (p.Ser1211Ter)
c.3596C>G (p.Ser1199Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.236897024C>TCA345391258MTRc.3617C>T (p.Ser1206Leu)
n.4347C>T
c.3464C>T (p.Ser1155Leu)
c.*2659C>T (n.*2659C>T)
c.*2361C>T (n.*2361C>T)
c.3269C>T (p.Ser1090Leu)
n.6744C>T
c.3428C>T (p.Ser1143Leu)
n.6874C>T
c.3437C>T (p.Ser1146Leu)
c.3179C>T (p.Ser1060Leu)
n.3811C>T
c.2279C>T (p.Ser760Leu)
n.1229C>T
c.2396C>T (p.Ser799Leu)
c.3614C>T (p.Ser1205Leu)
c.2681C>T (p.Ser894Leu)
c.3785C>T (p.Ser1262Leu)
c.3632C>T (p.Ser1211Leu)
c.3596C>T (p.Ser1199Leu)
 COSMIC
1g.236897025A=CA2487108649MTRc.3618A= (p.Ser1206=)
n.4348A=
c.3465A= (p.Ser1155=)
c.*2660A= (n.*2660A=)
c.*2362A= (n.*2362A=)
c.3270A= (p.Ser1090=)
n.6745A=
c.3429A= (p.Ser1143=)
n.6875A=
c.3438A= (p.Ser1146=)
c.3180A= (p.Ser1060=)
n.3812A=
c.2280A= (p.Ser760=)
n.1230A=
c.2397A= (p.Ser799=)
c.3615A= (p.Ser1205=)
c.2682A= (p.Ser894=)
c.3786A= (p.Ser1262=)
c.3633A= (p.Ser1211=)
c.3597A= (p.Ser1199=)
1g.236897025A>CCA423817884MTRc.3618A>C (p.Ser1206=)
n.4348A>C
c.3465A>C (p.Ser1155=)
c.*2660A>C (n.*2660A>C)
c.*2362A>C (n.*2362A>C)
c.3270A>C (p.Ser1090=)
n.6745A>C
c.3429A>C (p.Ser1143=)
n.6875A>C
c.3438A>C (p.Ser1146=)
c.3180A>C (p.Ser1060=)
n.3812A>C
c.2280A>C (p.Ser760=)
n.1230A>C
c.2397A>C (p.Ser799=)
c.3615A>C (p.Ser1205=)
c.2682A>C (p.Ser894=)
c.3786A>C (p.Ser1262=)
c.3633A>C (p.Ser1211=)
c.3597A>C (p.Ser1199=)
1g.236897025A>GCA423817883MTRc.3618A>G (p.Ser1206=)
n.4348A>G
c.3465A>G (p.Ser1155=)
c.*2660A>G (n.*2660A>G)
c.*2362A>G (n.*2362A>G)
c.3270A>G (p.Ser1090=)
n.6745A>G
c.3429A>G (p.Ser1143=)
n.6875A>G
c.3438A>G (p.Ser1146=)
c.3180A>G (p.Ser1060=)
n.3812A>G
c.2280A>G (p.Ser760=)
n.1230A>G
c.2397A>G (p.Ser799=)
c.3615A>G (p.Ser1205=)
c.2682A>G (p.Ser894=)
c.3786A>G (p.Ser1262=)
c.3633A>G (p.Ser1211=)
c.3597A>G (p.Ser1199=)
 dbSNP gnomAD v3 gnomAD v4
1g.236897025A>TCA423817885MTRc.3618A>T (p.Ser1206=)
n.4348A>T
c.3465A>T (p.Ser1155=)
c.*2660A>T (n.*2660A>T)
c.*2362A>T (n.*2362A>T)
c.3270A>T (p.Ser1090=)
n.6745A>T
c.3429A>T (p.Ser1143=)
n.6875A>T
c.3438A>T (p.Ser1146=)
c.3180A>T (p.Ser1060=)
n.3812A>T
c.2280A>T (p.Ser760=)
n.1230A>T
c.2397A>T (p.Ser799=)
c.3615A>T (p.Ser1205=)
c.2682A>T (p.Ser894=)
c.3786A>T (p.Ser1262=)
c.3633A>T (p.Ser1211=)
c.3597A>T (p.Ser1199=)
1g.236897026T>ACA345391264MTRc.3619T>A (p.Leu1207Ile)
n.4349T>A
c.3466T>A (p.Leu1156Ile)
c.*2661T>A (n.*2661T>A)
c.*2363T>A (n.*2363T>A)
c.3271T>A (p.Leu1091Ile)
n.6746T>A
c.3430T>A (p.Leu1144Ile)
n.6876T>A
c.3439T>A (p.Leu1147Ile)
c.3181T>A (p.Leu1061Ile)
n.3813T>A
c.2281T>A (p.Leu761Ile)
n.1231T>A
c.2398T>A (p.Leu800Ile)
c.3616T>A (p.Leu1206Ile)
c.2683T>A (p.Leu895Ile)
c.3787T>A (p.Leu1263Ile)
c.3634T>A (p.Leu1212Ile)
c.3598T>A (p.Leu1200Ile)
1g.236897026T>CCA423817886MTRc.3619T>C (p.Leu1207=)
n.4349T>C
c.3466T>C (p.Leu1156=)
c.*2661T>C (n.*2661T>C)
c.*2363T>C (n.*2363T>C)
c.3271T>C (p.Leu1091=)
n.6746T>C
c.3430T>C (p.Leu1144=)
n.6876T>C
c.3439T>C (p.Leu1147=)
c.3181T>C (p.Leu1061=)
n.3813T>C
c.2281T>C (p.Leu761=)
n.1231T>C
c.2398T>C (p.Leu800=)
c.3616T>C (p.Leu1206=)
c.2683T>C (p.Leu895=)
c.3787T>C (p.Leu1263=)
c.3634T>C (p.Leu1212=)
c.3598T>C (p.Leu1200=)
1g.236897026T>GCA345391267MTRc.3619T>G (p.Leu1207Val)
n.4349T>G
c.3466T>G (p.Leu1156Val)
c.*2661T>G (n.*2661T>G)
c.*2363T>G (n.*2363T>G)
c.3271T>G (p.Leu1091Val)
n.6746T>G
c.3430T>G (p.Leu1144Val)
n.6876T>G
c.3439T>G (p.Leu1147Val)
c.3181T>G (p.Leu1061Val)
n.3813T>G
c.2281T>G (p.Leu761Val)
n.1231T>G
c.2398T>G (p.Leu800Val)
c.3616T>G (p.Leu1206Val)
c.2683T>G (p.Leu895Val)
c.3787T>G (p.Leu1263Val)
c.3634T>G (p.Leu1212Val)
c.3598T>G (p.Leu1200Val)
1g.236897027T>ACA345391272MTRc.3620T>A (p.Leu1207Ter)
n.4350T>A
c.3467T>A (p.Leu1156Ter)
c.*2662T>A (n.*2662T>A)
c.*2364T>A (n.*2364T>A)
c.3272T>A (p.Leu1091Ter)
n.6747T>A
c.3431T>A (p.Leu1144Ter)
n.6877T>A
c.3440T>A (p.Leu1147Ter)
c.3182T>A (p.Leu1061Ter)
n.3814T>A
c.2282T>A (p.Leu761Ter)
n.1232T>A
c.2399T>A (p.Leu800Ter)
c.3617T>A (p.Leu1206Ter)
c.2684T>A (p.Leu895Ter)
c.3788T>A (p.Leu1263Ter)
c.3635T>A (p.Leu1212Ter)
c.3599T>A (p.Leu1200Ter)
1g.236897027T>CCA345391276MTRc.3620T>C (p.Leu1207Ser)
n.4350T>C
c.3467T>C (p.Leu1156Ser)
c.*2662T>C (n.*2662T>C)
c.*2364T>C (n.*2364T>C)
c.3272T>C (p.Leu1091Ser)
n.6747T>C
c.3431T>C (p.Leu1144Ser)
n.6877T>C
c.3440T>C (p.Leu1147Ser)
c.3182T>C (p.Leu1061Ser)
n.3814T>C
c.2282T>C (p.Leu761Ser)
n.1232T>C
c.2399T>C (p.Leu800Ser)
c.3617T>C (p.Leu1206Ser)
c.2684T>C (p.Leu895Ser)
c.3788T>C (p.Leu1263Ser)
c.3635T>C (p.Leu1212Ser)
c.3599T>C (p.Leu1200Ser)
1g.236897027T>GCA345391280MTRc.3620T>G (p.Leu1207Ter)
n.4350T>G
c.3467T>G (p.Leu1156Ter)
c.*2662T>G (n.*2662T>G)
c.*2364T>G (n.*2364T>G)
c.3272T>G (p.Leu1091Ter)
n.6747T>G
c.3431T>G (p.Leu1144Ter)
n.6877T>G
c.3440T>G (p.Leu1147Ter)
c.3182T>G (p.Leu1061Ter)
n.3814T>G
c.2282T>G (p.Leu761Ter)
n.1232T>G
c.2399T>G (p.Leu800Ter)
c.3617T>G (p.Leu1206Ter)
c.2684T>G (p.Leu895Ter)
c.3788T>G (p.Leu1263Ter)
c.3635T>G (p.Leu1212Ter)
c.3599T>G (p.Leu1200Ter)
1g.236897028A>CCA345391294MTRc.3621A>C (p.Leu1207Phe)
n.4351A>C
c.3468A>C (p.Leu1156Phe)
c.*2663A>C (n.*2663A>C)
c.*2365A>C (n.*2365A>C)
c.3273A>C (p.Leu1091Phe)
n.6748A>C
c.3432A>C (p.Leu1144Phe)
n.6878A>C
c.3441A>C (p.Leu1147Phe)
c.3183A>C (p.Leu1061Phe)
n.3815A>C
c.2283A>C (p.Leu761Phe)
n.1233A>C
c.2400A>C (p.Leu800Phe)
c.3618A>C (p.Leu1206Phe)
c.2685A>C (p.Leu895Phe)
c.3789A>C (p.Leu1263Phe)
c.3636A>C (p.Leu1212Phe)
c.3600A>C (p.Leu1200Phe)
1g.236897028A>GCA423817887MTRc.3621A>G (p.Leu1207=)
n.4351A>G
c.3468A>G (p.Leu1156=)
c.*2663A>G (n.*2663A>G)
c.*2365A>G (n.*2365A>G)
c.3273A>G (p.Leu1091=)
n.6748A>G
c.3432A>G (p.Leu1144=)
n.6878A>G
c.3441A>G (p.Leu1147=)
c.3183A>G (p.Leu1061=)
n.3815A>G
c.2283A>G (p.Leu761=)
n.1233A>G
c.2400A>G (p.Leu800=)
c.3618A>G (p.Leu1206=)
c.2685A>G (p.Leu895=)
c.3789A>G (p.Leu1263=)
c.3636A>G (p.Leu1212=)
c.3600A>G (p.Leu1200=)
1g.236897028A>TCA345391284MTRc.3621A>T (p.Leu1207Phe)
n.4351A>T
c.3468A>T (p.Leu1156Phe)
c.*2663A>T (n.*2663A>T)
c.*2365A>T (n.*2365A>T)
c.3273A>T (p.Leu1091Phe)
n.6748A>T
c.3432A>T (p.Leu1144Phe)
n.6878A>T
c.3441A>T (p.Leu1147Phe)
c.3183A>T (p.Leu1061Phe)
n.3815A>T
c.2283A>T (p.Leu761Phe)
n.1233A>T
c.2400A>T (p.Leu800Phe)
c.3618A>T (p.Leu1206Phe)
c.2685A>T (p.Leu895Phe)
c.3789A>T (p.Leu1263Phe)
c.3636A>T (p.Leu1212Phe)
c.3600A>T (p.Leu1200Phe)
1g.236897029G>ACA345391297MTRc.3622G>A (p.Ala1208Thr)
n.4352G>A
c.3469G>A (p.Ala1157Thr)
c.*2664G>A (n.*2664G>A)
c.*2366G>A (n.*2366G>A)
c.3274G>A (p.Ala1092Thr)
n.6749G>A
c.3433G>A (p.Ala1145Thr)
n.6879G>A
c.3442G>A (p.Ala1148Thr)
c.3184G>A (p.Ala1062Thr)
n.3816G>A
c.2284G>A (p.Ala762Thr)
n.1234G>A
c.2401G>A (p.Ala801Thr)
c.3619G>A (p.Ala1207Thr)
c.2686G>A (p.Ala896Thr)
c.3790G>A (p.Ala1264Thr)
c.3637G>A (p.Ala1213Thr)
c.3601G>A (p.Ala1201Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.236897029G>CCA345391298MTRc.3622G>C (p.Ala1208Pro)
n.4352G>C
c.3469G>C (p.Ala1157Pro)
c.*2664G>C (n.*2664G>C)
c.*2366G>C (n.*2366G>C)
c.3274G>C (p.Ala1092Pro)
n.6749G>C
c.3433G>C (p.Ala1145Pro)
n.6879G>C
c.3442G>C (p.Ala1148Pro)
c.3184G>C (p.Ala1062Pro)
n.3816G>C
c.2284G>C (p.Ala762Pro)
n.1234G>C
c.2401G>C (p.Ala801Pro)
c.3619G>C (p.Ala1207Pro)
c.2686G>C (p.Ala896Pro)
c.3790G>C (p.Ala1264Pro)
c.3637G>C (p.Ala1213Pro)
c.3601G>C (p.Ala1201Pro)
1g.236897029G=CA2487108650MTRc.3622G= (p.Ala1208=)
n.4352G=
c.3469G= (p.Ala1157=)
c.*2664G= (n.*2664G=)
c.*2366G= (n.*2366G=)
c.3274G= (p.Ala1092=)
n.6749G=
c.3433G= (p.Ala1145=)
n.6879G=
c.3442G= (p.Ala1148=)
c.3184G= (p.Ala1062=)
n.3816G=
c.2284G= (p.Ala762=)
n.1234G=
c.2401G= (p.Ala801=)
c.3619G= (p.Ala1207=)
c.2686G= (p.Ala896=)
c.3790G= (p.Ala1264=)
c.3637G= (p.Ala1213=)
c.3601G= (p.Ala1201=)
1g.236897029G>TCA345391299MTRc.3622G>T (p.Ala1208Ser)
n.4352G>T
c.3469G>T (p.Ala1157Ser)
c.*2664G>T (n.*2664G>T)
c.*2366G>T (n.*2366G>T)
c.3274G>T (p.Ala1092Ser)
n.6749G>T
c.3433G>T (p.Ala1145Ser)
n.6879G>T
c.3442G>T (p.Ala1148Ser)
c.3184G>T (p.Ala1062Ser)
n.3816G>T
c.2284G>T (p.Ala762Ser)
n.1234G>T
c.2401G>T (p.Ala801Ser)
c.3619G>T (p.Ala1207Ser)
c.2686G>T (p.Ala896Ser)
c.3790G>T (p.Ala1264Ser)
c.3637G>T (p.Ala1213Ser)
c.3601G>T (p.Ala1201Ser)
1g.236897030C>ACA345391300MTRc.3623C>A (p.Ala1208Glu)
n.4353C>A
c.3470C>A (p.Ala1157Glu)
c.*2665C>A (n.*2665C>A)
c.*2367C>A (n.*2367C>A)
c.3275C>A (p.Ala1092Glu)
n.6750C>A
c.3434C>A (p.Ala1145Glu)
n.6880C>A
c.3443C>A (p.Ala1148Glu)
c.3185C>A (p.Ala1062Glu)
n.3817C>A
c.2285C>A (p.Ala762Glu)
n.1235C>A
c.2402C>A (p.Ala801Glu)
c.3620C>A (p.Ala1207Glu)
c.2687C>A (p.Ala896Glu)
c.3791C>A (p.Ala1264Glu)
c.3638C>A (p.Ala1213Glu)
c.3602C>A (p.Ala1201Glu)
1g.236897030C>GCA345391301MTRc.3623C>G (p.Ala1208Gly)
n.4353C>G
c.3470C>G (p.Ala1157Gly)
c.*2665C>G (n.*2665C>G)
c.*2367C>G (n.*2367C>G)
c.3275C>G (p.Ala1092Gly)
n.6750C>G
c.3434C>G (p.Ala1145Gly)
n.6880C>G
c.3443C>G (p.Ala1148Gly)
c.3185C>G (p.Ala1062Gly)
n.3817C>G
c.2285C>G (p.Ala762Gly)
n.1235C>G
c.2402C>G (p.Ala801Gly)
c.3620C>G (p.Ala1207Gly)
c.2687C>G (p.Ala896Gly)
c.3791C>G (p.Ala1264Gly)
c.3638C>G (p.Ala1213Gly)
c.3602C>G (p.Ala1201Gly)
1g.236897030C>TCA345391302MTRc.3623C>T (p.Ala1208Val)
n.4353C>T
c.3470C>T (p.Ala1157Val)
c.*2665C>T (n.*2665C>T)
c.*2367C>T (n.*2367C>T)
c.3275C>T (p.Ala1092Val)
n.6750C>T
c.3434C>T (p.Ala1145Val)
n.6880C>T
c.3443C>T (p.Ala1148Val)
c.3185C>T (p.Ala1062Val)
n.3817C>T
c.2285C>T (p.Ala762Val)
n.1235C>T
c.2402C>T (p.Ala801Val)
c.3620C>T (p.Ala1207Val)
c.2687C>T (p.Ala896Val)
c.3791C>T (p.Ala1264Val)
c.3638C>T (p.Ala1213Val)
c.3602C>T (p.Ala1201Val)
1g.236897031A>CCA423817888MTRc.3624A>C (p.Ala1208=)
n.4354A>C
c.3471A>C (p.Ala1157=)
c.*2666A>C (n.*2666A>C)
c.*2368A>C (n.*2368A>C)
c.3276A>C (p.Ala1092=)
n.6751A>C
c.3435A>C (p.Ala1145=)
n.6881A>C
c.3444A>C (p.Ala1148=)
c.3186A>C (p.Ala1062=)
n.3818A>C
c.2286A>C (p.Ala762=)
n.1236A>C
c.2403A>C (p.Ala801=)
c.3621A>C (p.Ala1207=)
c.2688A>C (p.Ala896=)
c.3792A>C (p.Ala1264=)
c.3639A>C (p.Ala1213=)
c.3603A>C (p.Ala1201=)
1g.236897031A>GCA423817890MTRc.3624A>G (p.Ala1208=)
n.4354A>G
c.3471A>G (p.Ala1157=)
c.*2666A>G (n.*2666A>G)
c.*2368A>G (n.*2368A>G)
c.3276A>G (p.Ala1092=)
n.6751A>G
c.3435A>G (p.Ala1145=)
n.6881A>G
c.3444A>G (p.Ala1148=)
c.3186A>G (p.Ala1062=)
n.3818A>G
c.2286A>G (p.Ala762=)
n.1236A>G
c.2403A>G (p.Ala801=)
c.3621A>G (p.Ala1207=)
c.2688A>G (p.Ala896=)
c.3792A>G (p.Ala1264=)
c.3639A>G (p.Ala1213=)
c.3603A>G (p.Ala1201=)
 ClinVar
1g.236897031A>TCA423817889MTRc.3624A>T (p.Ala1208=)
n.4354A>T
c.3471A>T (p.Ala1157=)
c.*2666A>T (n.*2666A>T)
c.*2368A>T (n.*2368A>T)
c.3276A>T (p.Ala1092=)
n.6751A>T
c.3435A>T (p.Ala1145=)
n.6881A>T
c.3444A>T (p.Ala1148=)
c.3186A>T (p.Ala1062=)
n.3818A>T
c.2286A>T (p.Ala762=)
n.1236A>T
c.2403A>T (p.Ala801=)
c.3621A>T (p.Ala1207=)
c.2688A>T (p.Ala896=)
c.3792A>T (p.Ala1264=)
c.3639A>T (p.Ala1213=)
c.3603A>T (p.Ala1201=)
1g.236897032A=CA2487108651MTRc.3625A= (p.Met1209=)
n.4355A=
c.3472A= (p.Met1158=)
c.*2667A= (n.*2667A=)
c.*2369A= (n.*2369A=)
c.3277A= (p.Met1093=)
n.6752A=
c.3436A= (p.Met1146=)
n.6882A=
c.3445A= (p.Met1149=)
c.3187A= (p.Met1063=)
n.3819A=
c.2287A= (p.Met763=)
n.1237A=
c.2404A= (p.Met802=)
c.3622A= (p.Met1208=)
c.2689A= (p.Met897=)
c.3793A= (p.Met1265=)
c.3640A= (p.Met1214=)
c.3604A= (p.Met1202=)
1g.236897032A>CCA345391303MTRc.3625A>C (p.Met1209Leu)
n.4355A>C
c.3472A>C (p.Met1158Leu)
c.*2667A>C (n.*2667A>C)
c.*2369A>C (n.*2369A>C)
c.3277A>C (p.Met1093Leu)
n.6752A>C
c.3436A>C (p.Met1146Leu)
n.6882A>C
c.3445A>C (p.Met1149Leu)
c.3187A>C (p.Met1063Leu)
n.3819A>C
c.2287A>C (p.Met763Leu)
n.1237A>C
c.2404A>C (p.Met802Leu)
c.3622A>C (p.Met1208Leu)
c.2689A>C (p.Met897Leu)
c.3793A>C (p.Met1265Leu)
c.3640A>C (p.Met1214Leu)
c.3604A>C (p.Met1202Leu)
1g.236897032A>GCA1474760MTRc.3625A>G (p.Met1209Val)
n.4355A>G
c.3472A>G (p.Met1158Val)
c.*2667A>G (n.*2667A>G)
c.*2369A>G (n.*2369A>G)
c.3277A>G (p.Met1093Val)
n.6752A>G
c.3436A>G (p.Met1146Val)
n.6882A>G
c.3445A>G (p.Met1149Val)
c.3187A>G (p.Met1063Val)
n.3819A>G
c.2287A>G (p.Met763Val)
n.1237A>G
c.2404A>G (p.Met802Val)
c.3622A>G (p.Met1208Val)
c.2689A>G (p.Met897Val)
c.3793A>G (p.Met1265Val)
c.3640A>G (p.Met1214Val)
c.3604A>G (p.Met1202Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236897032A>TCA345391304MTRc.3625A>T (p.Met1209Leu)
n.4355A>T
c.3472A>T (p.Met1158Leu)
c.*2667A>T (n.*2667A>T)
c.*2369A>T (n.*2369A>T)
c.3277A>T (p.Met1093Leu)
n.6752A>T
c.3436A>T (p.Met1146Leu)
n.6882A>T
c.3445A>T (p.Met1149Leu)
c.3187A>T (p.Met1063Leu)
n.3819A>T
c.2287A>T (p.Met763Leu)
n.1237A>T
c.2404A>T (p.Met802Leu)
c.3622A>T (p.Met1208Leu)
c.2689A>T (p.Met897Leu)
c.3793A>T (p.Met1265Leu)
c.3640A>T (p.Met1214Leu)
c.3604A>T (p.Met1202Leu)
1g.236897033T>ACA345391317MTRc.3626T>A (p.Met1209Lys)
n.4356T>A
c.3473T>A (p.Met1158Lys)
c.*2668T>A (n.*2668T>A)
c.*2370T>A (n.*2370T>A)
c.3278T>A (p.Met1093Lys)
n.6753T>A
c.3437T>A (p.Met1146Lys)
n.6883T>A
c.3446T>A (p.Met1149Lys)
c.3188T>A (p.Met1063Lys)
n.3820T>A
c.2288T>A (p.Met763Lys)
n.1238T>A
c.2405T>A (p.Met802Lys)
c.3623T>A (p.Met1208Lys)
c.2690T>A (p.Met897Lys)
c.3794T>A (p.Met1265Lys)
c.3641T>A (p.Met1214Lys)
c.3605T>A (p.Met1202Lys)
1g.236897033T>CCA345391326MTRc.3626T>C (p.Met1209Thr)
n.4356T>C
c.3473T>C (p.Met1158Thr)
c.*2668T>C (n.*2668T>C)
c.*2370T>C (n.*2370T>C)
c.3278T>C (p.Met1093Thr)
n.6753T>C
c.3437T>C (p.Met1146Thr)
n.6883T>C
c.3446T>C (p.Met1149Thr)
c.3188T>C (p.Met1063Thr)
n.3820T>C
c.2288T>C (p.Met763Thr)
n.1238T>C
c.2405T>C (p.Met802Thr)
c.3623T>C (p.Met1208Thr)
c.2690T>C (p.Met897Thr)
c.3794T>C (p.Met1265Thr)
c.3641T>C (p.Met1214Thr)
c.3605T>C (p.Met1202Thr)
1g.236897033T>GCA345391321MTRc.3626T>G (p.Met1209Arg)
n.4356T>G
c.3473T>G (p.Met1158Arg)
c.*2668T>G (n.*2668T>G)
c.*2370T>G (n.*2370T>G)
c.3278T>G (p.Met1093Arg)
n.6753T>G
c.3437T>G (p.Met1146Arg)
n.6883T>G
c.3446T>G (p.Met1149Arg)
c.3188T>G (p.Met1063Arg)
n.3820T>G
c.2288T>G (p.Met763Arg)
n.1238T>G
c.2405T>G (p.Met802Arg)
c.3623T>G (p.Met1208Arg)
c.2690T>G (p.Met897Arg)
c.3794T>G (p.Met1265Arg)
c.3641T>G (p.Met1214Arg)
c.3605T>G (p.Met1202Arg)
1g.236897034G>ACA345391330MTRc.3627G>A (p.Met1209Ile)
n.4357G>A
c.3474G>A (p.Met1158Ile)
c.*2669G>A (n.*2669G>A)
c.*2371G>A (n.*2371G>A)
c.3279G>A (p.Met1093Ile)
n.6754G>A
c.3438G>A (p.Met1146Ile)
n.6884G>A
c.3447G>A (p.Met1149Ile)
c.3189G>A (p.Met1063Ile)
n.3821G>A
c.2289G>A (p.Met763Ile)
n.1239G>A
c.2406G>A (p.Met802Ile)
c.3624G>A (p.Met1208Ile)
c.2691G>A (p.Met897Ile)
c.3795G>A (p.Met1265Ile)
c.3642G>A (p.Met1214Ile)
c.3606G>A (p.Met1202Ile)
1g.236897034G>CCA345391333MTRc.3627G>C (p.Met1209Ile)
n.4357G>C
c.3474G>C (p.Met1158Ile)
c.*2669G>C (n.*2669G>C)
c.*2371G>C (n.*2371G>C)
c.3279G>C (p.Met1093Ile)
n.6754G>C
c.3438G>C (p.Met1146Ile)
n.6884G>C
c.3447G>C (p.Met1149Ile)
c.3189G>C (p.Met1063Ile)
n.3821G>C
c.2289G>C (p.Met763Ile)
n.1239G>C
c.2406G>C (p.Met802Ile)
c.3624G>C (p.Met1208Ile)
c.2691G>C (p.Met897Ile)
c.3795G>C (p.Met1265Ile)
c.3642G>C (p.Met1214Ile)
c.3606G>C (p.Met1202Ile)
1g.236897034G>TCA345391350MTRc.3627G>T (p.Met1209Ile)
n.4357G>T
c.3474G>T (p.Met1158Ile)
c.*2669G>T (n.*2669G>T)
c.*2371G>T (n.*2371G>T)
c.3279G>T (p.Met1093Ile)
n.6754G>T
c.3438G>T (p.Met1146Ile)
n.6884G>T
c.3447G>T (p.Met1149Ile)
c.3189G>T (p.Met1063Ile)
n.3821G>T
c.2289G>T (p.Met763Ile)
n.1239G>T
c.2406G>T (p.Met802Ile)
c.3624G>T (p.Met1208Ile)
c.2691G>T (p.Met897Ile)
c.3795G>T (p.Met1265Ile)
c.3642G>T (p.Met1214Ile)
c.3606G>T (p.Met1202Ile)
1g.236897035G>ACA345391351MTRc.3628G>A (p.Ala1210Thr)
n.4358G>A
c.3475G>A (p.Ala1159Thr)
c.*2670G>A (n.*2670G>A)
c.*2372G>A (n.*2372G>A)
c.3280G>A (p.Ala1094Thr)
n.6755G>A
c.3439G>A (p.Ala1147Thr)
n.6885G>A
c.3448G>A (p.Ala1150Thr)
c.3190G>A (p.Ala1064Thr)
n.3822G>A
c.2290G>A (p.Ala764Thr)
n.1240G>A
c.2407G>A (p.Ala803Thr)
c.3625G>A (p.Ala1209Thr)
c.2692G>A (p.Ala898Thr)
c.3796G>A (p.Ala1266Thr)
c.3643G>A (p.Ala1215Thr)
c.3607G>A (p.Ala1203Thr)
 gnomAD v4
1g.236897035G>CCA345391354MTRc.3628G>C (p.Ala1210Pro)
n.4358G>C
c.3475G>C (p.Ala1159Pro)
c.*2670G>C (n.*2670G>C)
c.*2372G>C (n.*2372G>C)
c.3280G>C (p.Ala1094Pro)
n.6755G>C
c.3439G>C (p.Ala1147Pro)
n.6885G>C
c.3448G>C (p.Ala1150Pro)
c.3190G>C (p.Ala1064Pro)
n.3822G>C
c.2290G>C (p.Ala764Pro)
n.1240G>C
c.2407G>C (p.Ala803Pro)
c.3625G>C (p.Ala1209Pro)
c.2692G>C (p.Ala898Pro)
c.3796G>C (p.Ala1266Pro)
c.3643G>C (p.Ala1215Pro)
c.3607G>C (p.Ala1203Pro)
1g.236897035G>TCA345391363MTRc.3628G>T (p.Ala1210Ser)
n.4358G>T
c.3475G>T (p.Ala1159Ser)
c.*2670G>T (n.*2670G>T)
c.*2372G>T (n.*2372G>T)
c.3280G>T (p.Ala1094Ser)
n.6755G>T
c.3439G>T (p.Ala1147Ser)
n.6885G>T
c.3448G>T (p.Ala1150Ser)
c.3190G>T (p.Ala1064Ser)
n.3822G>T
c.2290G>T (p.Ala764Ser)
n.1240G>T
c.2407G>T (p.Ala803Ser)
c.3625G>T (p.Ala1209Ser)
c.2692G>T (p.Ala898Ser)
c.3796G>T (p.Ala1266Ser)
c.3643G>T (p.Ala1215Ser)
c.3607G>T (p.Ala1203Ser)
1g.236897036C>ACA345391367MTRc.3629C>A (p.Ala1210Glu)
n.4359C>A
c.3476C>A (p.Ala1159Glu)
c.*2671C>A (n.*2671C>A)
c.*2373C>A (n.*2373C>A)
c.3281C>A (p.Ala1094Glu)
n.6756C>A
c.3440C>A (p.Ala1147Glu)
n.6886C>A
c.3449C>A (p.Ala1150Glu)
c.3191C>A (p.Ala1064Glu)
n.3823C>A
c.2291C>A (p.Ala764Glu)
n.1241C>A
c.2408C>A (p.Ala803Glu)
c.3626C>A (p.Ala1209Glu)
c.2693C>A (p.Ala898Glu)
c.3797C>A (p.Ala1266Glu)
c.3644C>A (p.Ala1215Glu)
c.3608C>A (p.Ala1203Glu)
1g.236897036C=CA2487108652MTRc.3629C= (p.Ala1210=)
n.4359C=
c.3476C= (p.Ala1159=)
c.*2671C= (n.*2671C=)
c.*2373C= (n.*2373C=)
c.3281C= (p.Ala1094=)
n.6756C=
c.3440C= (p.Ala1147=)
n.6886C=
c.3449C= (p.Ala1150=)
c.3191C= (p.Ala1064=)
n.3823C=
c.2291C= (p.Ala764=)
n.1241C=
c.2408C= (p.Ala803=)
c.3626C= (p.Ala1209=)
c.2693C= (p.Ala898=)
c.3797C= (p.Ala1266=)
c.3644C= (p.Ala1215=)
c.3608C= (p.Ala1203=)
1g.236897036C>GCA345391374MTRc.3629C>G (p.Ala1210Gly)
n.4359C>G
c.3476C>G (p.Ala1159Gly)
c.*2671C>G (n.*2671C>G)
c.*2373C>G (n.*2373C>G)
c.3281C>G (p.Ala1094Gly)
n.6756C>G
c.3440C>G (p.Ala1147Gly)
n.6886C>G
c.3449C>G (p.Ala1150Gly)
c.3191C>G (p.Ala1064Gly)
n.3823C>G
c.2291C>G (p.Ala764Gly)
n.1241C>G
c.2408C>G (p.Ala803Gly)
c.3626C>G (p.Ala1209Gly)
c.2693C>G (p.Ala898Gly)
c.3797C>G (p.Ala1266Gly)
c.3644C>G (p.Ala1215Gly)
c.3608C>G (p.Ala1203Gly)
 dbSNP
1g.236897036C>TCA345391378MTRc.3629C>T (p.Ala1210Val)
n.4359C>T
c.3476C>T (p.Ala1159Val)
c.*2671C>T (n.*2671C>T)
c.*2373C>T (n.*2373C>T)
c.3281C>T (p.Ala1094Val)
n.6756C>T
c.3440C>T (p.Ala1147Val)
n.6886C>T
c.3449C>T (p.Ala1150Val)
c.3191C>T (p.Ala1064Val)
n.3823C>T
c.2291C>T (p.Ala764Val)
n.1241C>T
c.2408C>T (p.Ala803Val)
c.3626C>T (p.Ala1209Val)
c.2693C>T (p.Ala898Val)
c.3797C>T (p.Ala1266Val)
c.3644C>T (p.Ala1215Val)
c.3608C>T (p.Ala1203Val)
 gnomAD v4
1g.236897037A>CCA423817891MTRc.3630A>C (p.Ala1210=)
n.4360A>C
c.3477A>C (p.Ala1159=)
c.*2672A>C (n.*2672A>C)
c.*2374A>C (n.*2374A>C)
c.3282A>C (p.Ala1094=)
n.6757A>C
c.3441A>C (p.Ala1147=)
n.6887A>C
c.3450A>C (p.Ala1150=)
c.3192A>C (p.Ala1064=)
n.3824A>C
c.2292A>C (p.Ala764=)
n.1242A>C
c.2409A>C (p.Ala803=)
c.3627A>C (p.Ala1209=)
c.2694A>C (p.Ala898=)
c.3798A>C (p.Ala1266=)
c.3645A>C (p.Ala1215=)
c.3609A>C (p.Ala1203=)
1g.236897037A>GCA423817892MTRc.3630A>G (p.Ala1210=)
n.4360A>G
c.3477A>G (p.Ala1159=)
c.*2672A>G (n.*2672A>G)
c.*2374A>G (n.*2374A>G)
c.3282A>G (p.Ala1094=)
n.6757A>G
c.3441A>G (p.Ala1147=)
n.6887A>G
c.3450A>G (p.Ala1150=)
c.3192A>G (p.Ala1064=)
n.3824A>G
c.2292A>G (p.Ala764=)
n.1242A>G
c.2409A>G (p.Ala803=)
c.3627A>G (p.Ala1209=)
c.2694A>G (p.Ala898=)
c.3798A>G (p.Ala1266=)
c.3645A>G (p.Ala1215=)
c.3609A>G (p.Ala1203=)
1g.236897037A>TCA423817893MTRc.3630A>T (p.Ala1210=)
n.4360A>T
c.3477A>T (p.Ala1159=)
c.*2672A>T (n.*2672A>T)
c.*2374A>T (n.*2374A>T)
c.3282A>T (p.Ala1094=)
n.6757A>T
c.3441A>T (p.Ala1147=)
n.6887A>T
c.3450A>T (p.Ala1150=)
c.3192A>T (p.Ala1064=)
n.3824A>T
c.2292A>T (p.Ala764=)
n.1242A>T
c.2409A>T (p.Ala803=)
c.3627A>T (p.Ala1209=)
c.2694A>T (p.Ala898=)
c.3798A>T (p.Ala1266=)
c.3645A>T (p.Ala1215=)
c.3609A>T (p.Ala1203=)
 ClinVar
1g.236897038C>ACA345391391MTRc.3631C>A (p.Pro1211Thr)
n.4361C>A
c.3478C>A (p.Pro1160Thr)
c.*2673C>A (n.*2673C>A)
c.*2375C>A (n.*2375C>A)
c.3283C>A (p.Pro1095Thr)
n.6758C>A
c.3442C>A (p.Pro1148Thr)
n.6888C>A
c.3451C>A (p.Pro1151Thr)
c.3193C>A (p.Pro1065Thr)
n.3825C>A
c.2293C>A (p.Pro765Thr)
n.1243C>A
c.2410C>A (p.Pro804Thr)
c.3628C>A (p.Pro1210Thr)
c.2695C>A (p.Pro899Thr)
c.3799C>A (p.Pro1267Thr)
c.3646C>A (p.Pro1216Thr)
c.3610C>A (p.Pro1204Thr)
1g.236897038C>GCA345391400MTRc.3631C>G (p.Pro1211Ala)
n.4361C>G
c.3478C>G (p.Pro1160Ala)
c.*2673C>G (n.*2673C>G)
c.*2375C>G (n.*2375C>G)
c.3283C>G (p.Pro1095Ala)
n.6758C>G
c.3442C>G (p.Pro1148Ala)
n.6888C>G
c.3451C>G (p.Pro1151Ala)
c.3193C>G (p.Pro1065Ala)
n.3825C>G
c.2293C>G (p.Pro765Ala)
n.1243C>G
c.2410C>G (p.Pro804Ala)
c.3628C>G (p.Pro1210Ala)
c.2695C>G (p.Pro899Ala)
c.3799C>G (p.Pro1267Ala)
c.3646C>G (p.Pro1216Ala)
c.3610C>G (p.Pro1204Ala)
1g.236897038C>TCA345391403MTRc.3631C>T (p.Pro1211Ser)
n.4361C>T
c.3478C>T (p.Pro1160Ser)
c.*2673C>T (n.*2673C>T)
c.*2375C>T (n.*2375C>T)
c.3283C>T (p.Pro1095Ser)
n.6758C>T
c.3442C>T (p.Pro1148Ser)
n.6888C>T
c.3451C>T (p.Pro1151Ser)
c.3193C>T (p.Pro1065Ser)
n.3825C>T
c.2293C>T (p.Pro765Ser)
n.1243C>T
c.2410C>T (p.Pro804Ser)
c.3628C>T (p.Pro1210Ser)
c.2695C>T (p.Pro899Ser)
c.3799C>T (p.Pro1267Ser)
c.3646C>T (p.Pro1216Ser)
c.3610C>T (p.Pro1204Ser)
1g.236897039C>ACA345391424MTRc.3632C>A (p.Pro1211His)
n.4362C>A
c.3479C>A (p.Pro1160His)
c.*2674C>A (n.*2674C>A)
c.*2376C>A (n.*2376C>A)
c.3284C>A (p.Pro1095His)
n.6759C>A
c.3443C>A (p.Pro1148His)
n.6889C>A
c.3452C>A (p.Pro1151His)
c.3194C>A (p.Pro1065His)
n.3826C>A
c.2294C>A (p.Pro765His)
n.1244C>A
c.2411C>A (p.Pro804His)
c.3629C>A (p.Pro1210His)
c.2696C>A (p.Pro899His)
c.3800C>A (p.Pro1267His)
c.3647C>A (p.Pro1216His)
c.3611C>A (p.Pro1204His)
1g.236897039C>GCA345391429MTRc.3632C>G (p.Pro1211Arg)
n.4362C>G
c.3479C>G (p.Pro1160Arg)
c.*2674C>G (n.*2674C>G)
c.*2376C>G (n.*2376C>G)
c.3284C>G (p.Pro1095Arg)
n.6759C>G
c.3443C>G (p.Pro1148Arg)
n.6889C>G
c.3452C>G (p.Pro1151Arg)
c.3194C>G (p.Pro1065Arg)
n.3826C>G
c.2294C>G (p.Pro765Arg)
n.1244C>G
c.2411C>G (p.Pro804Arg)
c.3629C>G (p.Pro1210Arg)
c.2696C>G (p.Pro899Arg)
c.3800C>G (p.Pro1267Arg)
c.3647C>G (p.Pro1216Arg)
c.3611C>G (p.Pro1204Arg)
1g.236897039C>TCA345391425MTRc.3632C>T (p.Pro1211Leu)
n.4362C>T
c.3479C>T (p.Pro1160Leu)
c.*2674C>T (n.*2674C>T)
c.*2376C>T (n.*2376C>T)
c.3284C>T (p.Pro1095Leu)
n.6759C>T
c.3443C>T (p.Pro1148Leu)
n.6889C>T
c.3452C>T (p.Pro1151Leu)
c.3194C>T (p.Pro1065Leu)
n.3826C>T
c.2294C>T (p.Pro765Leu)
n.1244C>T
c.2411C>T (p.Pro804Leu)
c.3629C>T (p.Pro1210Leu)
c.2696C>T (p.Pro899Leu)
c.3800C>T (p.Pro1267Leu)
c.3647C>T (p.Pro1216Leu)
c.3611C>T (p.Pro1204Leu)
1g.236897040T>ACA423817896MTRc.3633T>A (p.Pro1211=)
n.4363T>A
c.3480T>A (p.Pro1160=)
c.*2675T>A (n.*2675T>A)
c.*2377T>A (n.*2377T>A)
c.3285T>A (p.Pro1095=)
n.6760T>A
c.3444T>A (p.Pro1148=)
n.6890T>A
c.3453T>A (p.Pro1151=)
c.3195T>A (p.Pro1065=)
n.3827T>A
c.2295T>A (p.Pro765=)
n.1245T>A
c.2412T>A (p.Pro804=)
c.3630T>A (p.Pro1210=)
c.2697T>A (p.Pro899=)
c.3801T>A (p.Pro1267=)
c.3648T>A (p.Pro1216=)
c.3612T>A (p.Pro1204=)
1g.236897040T>CCA423817894MTRc.3633T>C (p.Pro1211=)
n.4363T>C
c.3480T>C (p.Pro1160=)
c.*2675T>C (n.*2675T>C)
c.*2377T>C (n.*2377T>C)
c.3285T>C (p.Pro1095=)
n.6760T>C
c.3444T>C (p.Pro1148=)
n.6890T>C
c.3453T>C (p.Pro1151=)
c.3195T>C (p.Pro1065=)
n.3827T>C
c.2295T>C (p.Pro765=)
n.1245T>C
c.2412T>C (p.Pro804=)
c.3630T>C (p.Pro1210=)
c.2697T>C (p.Pro899=)
c.3801T>C (p.Pro1267=)
c.3648T>C (p.Pro1216=)
c.3612T>C (p.Pro1204=)
1g.236897040T>GCA423817895MTRc.3633T>G (p.Pro1211=)
n.4363T>G
c.3480T>G (p.Pro1160=)
c.*2675T>G (n.*2675T>G)
c.*2377T>G (n.*2377T>G)
c.3285T>G (p.Pro1095=)
n.6760T>G
c.3444T>G (p.Pro1148=)
n.6890T>G
c.3453T>G (p.Pro1151=)
c.3195T>G (p.Pro1065=)
n.3827T>G
c.2295T>G (p.Pro765=)
n.1245T>G
c.2412T>G (p.Pro804=)
c.3630T>G (p.Pro1210=)
c.2697T>G (p.Pro899=)
c.3801T>G (p.Pro1267=)
c.3648T>G (p.Pro1216=)
c.3612T>G (p.Pro1204=)
1g.236897041G>ACA345391440MTRc.3634G>A (p.Ala1212Thr)
n.4364G>A
c.3481G>A (p.Ala1161Thr)
c.*2676G>A (n.*2676G>A)
c.*2378G>A (n.*2378G>A)
c.3286G>A (p.Ala1096Thr)
n.6761G>A
c.3445G>A (p.Ala1149Thr)
n.6891G>A
c.3454G>A (p.Ala1152Thr)
c.3196G>A (p.Ala1066Thr)
n.3828G>A
c.2296G>A (p.Ala766Thr)
n.1246G>A
c.2413G>A (p.Ala805Thr)
c.3631G>A (p.Ala1211Thr)
c.2698G>A (p.Ala900Thr)
c.3802G>A (p.Ala1268Thr)
c.3649G>A (p.Ala1217Thr)
c.3613G>A (p.Ala1205Thr)
1g.236897041G>CCA345391445MTRc.3634G>C (p.Ala1212Pro)
n.4364G>C
c.3481G>C (p.Ala1161Pro)
c.*2676G>C (n.*2676G>C)
c.*2378G>C (n.*2378G>C)
c.3286G>C (p.Ala1096Pro)
n.6761G>C
c.3445G>C (p.Ala1149Pro)
n.6891G>C
c.3454G>C (p.Ala1152Pro)
c.3196G>C (p.Ala1066Pro)
n.3828G>C
c.2296G>C (p.Ala766Pro)
n.1246G>C
c.2413G>C (p.Ala805Pro)
c.3631G>C (p.Ala1211Pro)
c.2698G>C (p.Ala900Pro)
c.3802G>C (p.Ala1268Pro)
c.3649G>C (p.Ala1217Pro)
c.3613G>C (p.Ala1205Pro)
1g.236897041G>TCA345391447MTRc.3634G>T (p.Ala1212Ser)
n.4364G>T
c.3481G>T (p.Ala1161Ser)
c.*2676G>T (n.*2676G>T)
c.*2378G>T (n.*2378G>T)
c.3286G>T (p.Ala1096Ser)
n.6761G>T
c.3445G>T (p.Ala1149Ser)
n.6891G>T
c.3454G>T (p.Ala1152Ser)
c.3196G>T (p.Ala1066Ser)
n.3828G>T
c.2296G>T (p.Ala766Ser)
n.1246G>T
c.2413G>T (p.Ala805Ser)
c.3631G>T (p.Ala1211Ser)
c.2698G>T (p.Ala900Ser)
c.3802G>T (p.Ala1268Ser)
c.3649G>T (p.Ala1217Ser)
c.3613G>T (p.Ala1205Ser)
1g.236897042C>ACA345391448MTRc.3635C>A (p.Ala1212Asp)
n.4365C>A
c.3482C>A (p.Ala1161Asp)
c.*2677C>A (n.*2677C>A)
c.*2379C>A (n.*2379C>A)
c.3287C>A (p.Ala1096Asp)
n.6762C>A
c.3446C>A (p.Ala1149Asp)
n.6892C>A
c.3455C>A (p.Ala1152Asp)
c.3197C>A (p.Ala1066Asp)
n.3829C>A
c.2297C>A (p.Ala766Asp)
n.1247C>A
c.2414C>A (p.Ala805Asp)
c.3632C>A (p.Ala1211Asp)
c.2699C>A (p.Ala900Asp)
c.3803C>A (p.Ala1268Asp)
c.3650C>A (p.Ala1217Asp)
c.3614C>A (p.Ala1205Asp)
1g.236897042C>GCA345391449MTRc.3635C>G (p.Ala1212Gly)
n.4365C>G
c.3482C>G (p.Ala1161Gly)
c.*2677C>G (n.*2677C>G)
c.*2379C>G (n.*2379C>G)
c.3287C>G (p.Ala1096Gly)
n.6762C>G
c.3446C>G (p.Ala1149Gly)
n.6892C>G
c.3455C>G (p.Ala1152Gly)
c.3197C>G (p.Ala1066Gly)
n.3829C>G
c.2297C>G (p.Ala766Gly)
n.1247C>G
c.2414C>G (p.Ala805Gly)
c.3632C>G (p.Ala1211Gly)
c.2699C>G (p.Ala900Gly)
c.3803C>G (p.Ala1268Gly)
c.3650C>G (p.Ala1217Gly)
c.3614C>G (p.Ala1205Gly)
1g.236897042C>TCA345391452MTRc.3635C>T (p.Ala1212Val)
n.4365C>T
c.3482C>T (p.Ala1161Val)
c.*2677C>T (n.*2677C>T)
c.*2379C>T (n.*2379C>T)
c.3287C>T (p.Ala1096Val)
n.6762C>T
c.3446C>T (p.Ala1149Val)
n.6892C>T
c.3455C>T (p.Ala1152Val)
c.3197C>T (p.Ala1066Val)
n.3829C>T
c.2297C>T (p.Ala766Val)
n.1247C>T
c.2414C>T (p.Ala805Val)
c.3632C>T (p.Ala1211Val)
c.2699C>T (p.Ala900Val)
c.3803C>T (p.Ala1268Val)
c.3650C>T (p.Ala1217Val)
c.3614C>T (p.Ala1205Val)
 gnomAD v4
1g.236897043T>ACA423817897MTRc.3636T>A (p.Ala1212=)
n.4366T>A
c.3483T>A (p.Ala1161=)
c.*2678T>A (n.*2678T>A)
c.*2380T>A (n.*2380T>A)
c.3288T>A (p.Ala1096=)
n.6763T>A
c.3447T>A (p.Ala1149=)
n.6893T>A
c.3456T>A (p.Ala1152=)
c.3198T>A (p.Ala1066=)
n.3830T>A
c.2298T>A (p.Ala766=)
n.1248T>A
c.2415T>A (p.Ala805=)
c.3633T>A (p.Ala1211=)
c.2700T>A (p.Ala900=)
c.3804T>A (p.Ala1268=)
c.3651T>A (p.Ala1217=)
c.3615T>A (p.Ala1205=)
1g.236897043T>CCA1474761MTRc.3636T>C (p.Ala1212=)
n.4366T>C
c.3483T>C (p.Ala1161=)
c.*2678T>C (n.*2678T>C)
c.*2380T>C (n.*2380T>C)
c.3288T>C (p.Ala1096=)
n.6763T>C
c.3447T>C (p.Ala1149=)
n.6893T>C
c.3456T>C (p.Ala1152=)
c.3198T>C (p.Ala1066=)
n.3830T>C
c.2298T>C (p.Ala766=)
n.1248T>C
c.2415T>C (p.Ala805=)
c.3633T>C (p.Ala1211=)
c.2700T>C (p.Ala900=)
c.3804T>C (p.Ala1268=)
c.3651T>C (p.Ala1217=)
c.3615T>C (p.Ala1205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236897043T>GCA423817898MTRc.3636T>G (p.Ala1212=)
n.4366T>G
c.3483T>G (p.Ala1161=)
c.*2678T>G (n.*2678T>G)
c.*2380T>G (n.*2380T>G)
c.3288T>G (p.Ala1096=)
n.6763T>G
c.3447T>G (p.Ala1149=)
n.6893T>G
c.3456T>G (p.Ala1152=)
c.3198T>G (p.Ala1066=)
n.3830T>G
c.2298T>G (p.Ala766=)
n.1248T>G
c.2415T>G (p.Ala805=)
c.3633T>G (p.Ala1211=)
c.2700T>G (p.Ala900=)
c.3804T>G (p.Ala1268=)
c.3651T>G (p.Ala1217=)
c.3615T>G (p.Ala1205=)
1g.236897043T=CA2487108653MTRc.3636T= (p.Ala1212=)
n.4366T=
c.3483T= (p.Ala1161=)
c.*2678T= (n.*2678T=)
c.*2380T= (n.*2380T=)
c.3288T= (p.Ala1096=)
n.6763T=
c.3447T= (p.Ala1149=)
n.6893T=
c.3456T= (p.Ala1152=)
c.3198T= (p.Ala1066=)
n.3830T=
c.2298T= (p.Ala766=)
n.1248T=
c.2415T= (p.Ala805=)
c.3633T= (p.Ala1211=)
c.2700T= (p.Ala900=)
c.3804T= (p.Ala1268=)
c.3651T= (p.Ala1217=)
c.3615T= (p.Ala1205=)
1g.236897044T>ACA345391458MTRc.3637T>A (p.Ser1213Thr)
n.4367T>A
c.3484T>A (p.Ser1162Thr)
c.*2679T>A (n.*2679T>A)
c.*2381T>A (n.*2381T>A)
c.3289T>A (p.Ser1097Thr)
n.6764T>A
c.3448T>A (p.Ser1150Thr)
n.6894T>A
c.3457T>A (p.Ser1153Thr)
c.3199T>A (p.Ser1067Thr)
n.3831T>A
c.2299T>A (p.Ser767Thr)
n.1249T>A
c.2416T>A (p.Ser806Thr)
c.3634T>A (p.Ser1212Thr)
c.2701T>A (p.Ser901Thr)
c.3805T>A (p.Ser1269Thr)
c.3652T>A (p.Ser1218Thr)
c.3616T>A (p.Ser1206Thr)
1g.236897044T>CCA345391460MTRc.3637T>C (p.Ser1213Pro)
n.4367T>C
c.3484T>C (p.Ser1162Pro)
c.*2679T>C (n.*2679T>C)
c.*2381T>C (n.*2381T>C)
c.3289T>C (p.Ser1097Pro)
n.6764T>C
c.3448T>C (p.Ser1150Pro)
n.6894T>C
c.3457T>C (p.Ser1153Pro)
c.3199T>C (p.Ser1067Pro)
n.3831T>C
c.2299T>C (p.Ser767Pro)
n.1249T>C
c.2416T>C (p.Ser806Pro)
c.3634T>C (p.Ser1212Pro)
c.2701T>C (p.Ser901Pro)
c.3805T>C (p.Ser1269Pro)
c.3652T>C (p.Ser1218Pro)
c.3616T>C (p.Ser1206Pro)
1g.236897044T>GCA345391462MTRc.3637T>G (p.Ser1213Ala)
n.4367T>G
c.3484T>G (p.Ser1162Ala)
c.*2679T>G (n.*2679T>G)
c.*2381T>G (n.*2381T>G)
c.3289T>G (p.Ser1097Ala)
n.6764T>G
c.3448T>G (p.Ser1150Ala)
n.6894T>G
c.3457T>G (p.Ser1153Ala)
c.3199T>G (p.Ser1067Ala)
n.3831T>G
c.2299T>G (p.Ser767Ala)
n.1249T>G
c.2416T>G (p.Ser806Ala)
c.3634T>G (p.Ser1212Ala)
c.2701T>G (p.Ser901Ala)
c.3805T>G (p.Ser1269Ala)
c.3652T>G (p.Ser1218Ala)
c.3616T>G (p.Ser1206Ala)
1g.236897045C>ACA345391469MTRc.3638C>A (p.Ser1213Ter)
n.4368C>A
c.3485C>A (p.Ser1162Ter)
c.*2680C>A (n.*2680C>A)
c.*2382C>A (n.*2382C>A)
c.3290C>A (p.Ser1097Ter)
n.6765C>A
c.3449C>A (p.Ser1150Ter)
n.6895C>A
c.3458C>A (p.Ser1153Ter)
c.3200C>A (p.Ser1067Ter)
n.3832C>A
c.2300C>A (p.Ser767Ter)
n.1250C>A
c.2417C>A (p.Ser806Ter)
c.3635C>A (p.Ser1212Ter)
c.2702C>A (p.Ser901Ter)
c.3806C>A (p.Ser1269Ter)
c.3653C>A (p.Ser1218Ter)
c.3617C>A (p.Ser1206Ter)
1g.236897045C>GCA345391473MTRc.3638C>G (p.Ser1213Ter)
n.4368C>G
c.3485C>G (p.Ser1162Ter)
c.*2680C>G (n.*2680C>G)
c.*2382C>G (n.*2382C>G)
c.3290C>G (p.Ser1097Ter)
n.6765C>G
c.3449C>G (p.Ser1150Ter)
n.6895C>G
c.3458C>G (p.Ser1153Ter)
c.3200C>G (p.Ser1067Ter)
n.3832C>G
c.2300C>G (p.Ser767Ter)
n.1250C>G
c.2417C>G (p.Ser806Ter)
c.3635C>G (p.Ser1212Ter)
c.2702C>G (p.Ser901Ter)
c.3806C>G (p.Ser1269Ter)
c.3653C>G (p.Ser1218Ter)
c.3617C>G (p.Ser1206Ter)
1g.236897045C>TCA345391468MTRc.3638C>T (p.Ser1213Leu)
n.4368C>T
c.3485C>T (p.Ser1162Leu)
c.*2680C>T (n.*2680C>T)
c.*2382C>T (n.*2382C>T)
c.3290C>T (p.Ser1097Leu)
n.6765C>T
c.3449C>T (p.Ser1150Leu)
n.6895C>T
c.3458C>T (p.Ser1153Leu)
c.3200C>T (p.Ser1067Leu)
n.3832C>T
c.2300C>T (p.Ser767Leu)
n.1250C>T
c.2417C>T (p.Ser806Leu)
c.3635C>T (p.Ser1212Leu)
c.2702C>T (p.Ser901Leu)
c.3806C>T (p.Ser1269Leu)
c.3653C>T (p.Ser1218Leu)
c.3617C>T (p.Ser1206Leu)
1g.236897046A>CCA423817901MTRc.3639A>C (p.Ser1213=)
n.4369A>C
c.3486A>C (p.Ser1162=)
c.*2681A>C (n.*2681A>C)
c.*2383A>C (n.*2383A>C)
c.3291A>C (p.Ser1097=)
n.6766A>C
c.3450A>C (p.Ser1150=)
n.6896A>C
c.3459A>C (p.Ser1153=)
c.3201A>C (p.Ser1067=)
n.3833A>C
c.2301A>C (p.Ser767=)
n.1251A>C
c.2418A>C (p.Ser806=)
c.3636A>C (p.Ser1212=)
c.2703A>C (p.Ser901=)
c.3807A>C (p.Ser1269=)
c.3654A>C (p.Ser1218=)
c.3618A>C (p.Ser1206=)
1g.236897046A>GCA423817899MTRc.3639A>G (p.Ser1213=)
n.4369A>G
c.3486A>G (p.Ser1162=)
c.*2681A>G (n.*2681A>G)
c.*2383A>G (n.*2383A>G)
c.3291A>G (p.Ser1097=)
n.6766A>G
c.3450A>G (p.Ser1150=)
n.6896A>G
c.3459A>G (p.Ser1153=)
c.3201A>G (p.Ser1067=)
n.3833A>G
c.2301A>G (p.Ser767=)
n.1251A>G
c.2418A>G (p.Ser806=)
c.3636A>G (p.Ser1212=)
c.2703A>G (p.Ser901=)
c.3807A>G (p.Ser1269=)
c.3654A>G (p.Ser1218=)
c.3618A>G (p.Ser1206=)
1g.236897046A>TCA423817900MTRc.3639A>T (p.Ser1213=)
n.4369A>T
c.3486A>T (p.Ser1162=)
c.*2681A>T (n.*2681A>T)
c.*2383A>T (n.*2383A>T)
c.3291A>T (p.Ser1097=)
n.6766A>T
c.3450A>T (p.Ser1150=)
n.6896A>T
c.3459A>T (p.Ser1153=)
c.3201A>T (p.Ser1067=)
n.3833A>T
c.2301A>T (p.Ser767=)
n.1251A>T
c.2418A>T (p.Ser806=)
c.3636A>T (p.Ser1212=)
c.2703A>T (p.Ser901=)
c.3807A>T (p.Ser1269=)
c.3654A>T (p.Ser1218=)
c.3618A>T (p.Ser1206=)
1g.236897047G>ACA345391474MTRc.3640G>A (p.Ala1214Thr)
n.4370G>A
c.3487G>A (p.Ala1163Thr)
c.*2682G>A (n.*2682G>A)
c.*2384G>A (n.*2384G>A)
c.3292G>A (p.Ala1098Thr)
n.6767G>A
c.3451G>A (p.Ala1151Thr)
n.6897G>A
c.3460G>A (p.Ala1154Thr)
c.3202G>A (p.Ala1068Thr)
n.3834G>A
c.2302G>A (p.Ala768Thr)
n.1252G>A
c.2419G>A (p.Ala807Thr)
c.3637G>A (p.Ala1213Thr)
c.2704G>A (p.Ala902Thr)
c.3808G>A (p.Ala1270Thr)
c.3655G>A (p.Ala1219Thr)
c.3619G>A (p.Ala1207Thr)
 gnomAD v4
1g.236897047G>CCA345391475MTRc.3640G>C (p.Ala1214Pro)
n.4370G>C
c.3487G>C (p.Ala1163Pro)
c.*2682G>C (n.*2682G>C)
c.*2384G>C (n.*2384G>C)
c.3292G>C (p.Ala1098Pro)
n.6767G>C
c.3451G>C (p.Ala1151Pro)
n.6897G>C
c.3460G>C (p.Ala1154Pro)
c.3202G>C (p.Ala1068Pro)
n.3834G>C
c.2302G>C (p.Ala768Pro)
n.1252G>C
c.2419G>C (p.Ala807Pro)
c.3637G>C (p.Ala1213Pro)
c.2704G>C (p.Ala902Pro)
c.3808G>C (p.Ala1270Pro)
c.3655G>C (p.Ala1219Pro)
c.3619G>C (p.Ala1207Pro)
1g.236897047G>TCA345391476MTRc.3640G>T (p.Ala1214Ser)
n.4370G>T
c.3487G>T (p.Ala1163Ser)
c.*2682G>T (n.*2682G>T)
c.*2384G>T (n.*2384G>T)
c.3292G>T (p.Ala1098Ser)
n.6767G>T
c.3451G>T (p.Ala1151Ser)
n.6897G>T
c.3460G>T (p.Ala1154Ser)
c.3202G>T (p.Ala1068Ser)
n.3834G>T
c.2302G>T (p.Ala768Ser)
n.1252G>T
c.2419G>T (p.Ala807Ser)
c.3637G>T (p.Ala1213Ser)
c.2704G>T (p.Ala902Ser)
c.3808G>T (p.Ala1270Ser)
c.3655G>T (p.Ala1219Ser)
c.3619G>T (p.Ala1207Ser)
1g.236897047_236897053delinsGCAGTCTCA2487108654MTRc.3640_3646delinsGCAGTCT (p.Ala1214=)
n.4370_4376delinsGCAGTCT
c.3487_3493delinsGCAGTCT (p.Ala1163=)
c.*2682_*2688delinsGCAGTCT (n.*2682_*2688delinsGCAGTCT)
c.*2384_*2390delinsGCAGTCT (n.*2384_*2390delinsGCAGTCT)
c.3292_3298delinsGCAGTCT (p.Ala1098=)
n.6767_6773delinsGCAGTCT
c.3451_3457delinsGCAGTCT (p.Ala1151=)
n.6897_6903delinsGCAGTCT
c.3460_3466delinsGCAGTCT (p.Ala1154=)
c.3202_3208delinsGCAGTCT (p.Ala1068=)
n.3834_3840delinsGCAGTCT
c.2302_2308delinsGCAGTCT (p.Ala768=)
n.1252_1258delinsGCAGTCT
c.2419_2425delinsGCAGTCT (p.Ala807=)
c.3637_3643delinsGCAGTCT (p.Ala1213=)
c.2704_2710delinsGCAGTCT (p.Ala902=)
c.3808_3814delinsGCAGTCT (p.Ala1270=)
c.3655_3661delinsGCAGTCT (p.Ala1219=)
c.3619_3625delinsGCAGTCT (p.Ala1207=)
1g.236897049_236897058delCA2651190773MTRc.3642_3651del (p.Val1215SerfsTer6)
n.4372_4381del
c.3489_3498del (p.Val1164SerfsTer6)
c.*2684_*2693del (n.*2684_*2693del)
c.*2386_*2395del (n.*2386_*2395del)
c.3294_3303del (p.Val1099SerfsTer6)
n.6769_6778del
c.3453_3462del (p.Val1152SerfsTer6)
n.6899_6908del
c.3462_3471del (p.Val1155SerfsTer6)
c.3204_3213del (p.Val1069SerfsTer6)
n.3836_3845del
c.2304_2313del (p.Val769SerfsTer6)
n.1254_1263del
c.2421_2430del (p.Val808SerfsTer6)
c.3639_3648del (p.Val1214SerfsTer6)
c.2706_2715del (p.Val903SerfsTer6)
c.3810_3819del (p.Val1271SerfsTer6)
c.3657_3666del (p.Val1220SerfsTer6)
c.3621_3630del (p.Val1208SerfsTer6)
 gnomAD v4
1g.236897048C>ACA345391478MTRc.3641C>A (p.Ala1214Glu)
n.4371C>A
c.3488C>A (p.Ala1163Glu)
c.*2683C>A (n.*2683C>A)
c.*2385C>A (n.*2385C>A)
c.3293C>A (p.Ala1098Glu)
n.6768C>A
c.3452C>A (p.Ala1151Glu)
n.6898C>A
c.3461C>A (p.Ala1154Glu)
c.3203C>A (p.Ala1068Glu)
n.3835C>A
c.2303C>A (p.Ala768Glu)
n.1253C>A
c.2420C>A (p.Ala807Glu)
c.3638C>A (p.Ala1213Glu)
c.2705C>A (p.Ala902Glu)
c.3809C>A (p.Ala1270Glu)
c.3656C>A (p.Ala1219Glu)
c.3620C>A (p.Ala1207Glu)
1g.236897048C=CA2487108655MTRc.3641C= (p.Ala1214=)
n.4371C=
c.3488C= (p.Ala1163=)
c.*2683C= (n.*2683C=)
c.*2385C= (n.*2385C=)
c.3293C= (p.Ala1098=)
n.6768C=
c.3452C= (p.Ala1151=)
n.6898C=
c.3461C= (p.Ala1154=)
c.3203C= (p.Ala1068=)
n.3835C=
c.2303C= (p.Ala768=)
n.1253C=
c.2420C= (p.Ala807=)
c.3638C= (p.Ala1213=)
c.2705C= (p.Ala902=)
c.3809C= (p.Ala1270=)
c.3656C= (p.Ala1219=)
c.3620C= (p.Ala1207=)
1g.236897048C>GCA345391485MTRc.3641C>G (p.Ala1214Gly)
n.4371C>G
c.3488C>G (p.Ala1163Gly)
c.*2683C>G (n.*2683C>G)
c.*2385C>G (n.*2385C>G)
c.3293C>G (p.Ala1098Gly)
n.6768C>G
c.3452C>G (p.Ala1151Gly)
n.6898C>G
c.3461C>G (p.Ala1154Gly)
c.3203C>G (p.Ala1068Gly)
n.3835C>G
c.2303C>G (p.Ala768Gly)
n.1253C>G
c.2420C>G (p.Ala807Gly)
c.3638C>G (p.Ala1213Gly)
c.2705C>G (p.Ala902Gly)
c.3809C>G (p.Ala1270Gly)
c.3656C>G (p.Ala1219Gly)
c.3620C>G (p.Ala1207Gly)
1g.236897048C>TCA345391486MTRc.3641C>T (p.Ala1214Val)
n.4371C>T
c.3488C>T (p.Ala1163Val)
c.*2683C>T (n.*2683C>T)
c.*2385C>T (n.*2385C>T)
c.3293C>T (p.Ala1098Val)
n.6768C>T
c.3452C>T (p.Ala1151Val)
n.6898C>T
c.3461C>T (p.Ala1154Val)
c.3203C>T (p.Ala1068Val)
n.3835C>T
c.2303C>T (p.Ala768Val)
n.1253C>T
c.2420C>T (p.Ala807Val)
c.3638C>T (p.Ala1213Val)
c.2705C>T (p.Ala902Val)
c.3809C>T (p.Ala1270Val)
c.3656C>T (p.Ala1219Val)
c.3620C>T (p.Ala1207Val)
 dbSNP gnomAD v3 gnomAD v4
1g.236897051_236897056delCA529536083MTRc.3644_3649del (p.Val1215_Ser1216del)
n.4374_4379del
c.3491_3496del (p.Val1164_Ser1165del)
c.*2686_*2691del (n.*2686_*2691del)
c.*2388_*2393del (n.*2388_*2393del)
c.3296_3301del (p.Val1099_Ser1100del)
n.6771_6776del
c.3455_3460del (p.Val1152_Ser1153del)
n.6901_6906del
c.3464_3469del (p.Val1155_Ser1156del)
c.3206_3211del (p.Val1069_Ser1070del)
n.3838_3843del
c.2306_2311del (p.Val769_Ser770del)
n.1256_1261del
c.2423_2428del (p.Val808_Ser809del)
c.3641_3646del (p.Val1214_Ser1215del)
c.2708_2713del (p.Val903_Ser904del)
c.3812_3817del (p.Val1271_Ser1272del)
c.3659_3664del (p.Val1220_Ser1221del)
c.3623_3628del (p.Val1208_Ser1209del)
 dbSNP gnomAD v2 gnomAD v4
1g.236897049A=CA2487108656MTRc.3642A= (p.Ala1214=)
n.4372A=
c.3489A= (p.Ala1163=)
c.*2684A= (n.*2684A=)
c.*2386A= (n.*2386A=)
c.3294A= (p.Ala1098=)
n.6769A=
c.3453A= (p.Ala1151=)
n.6899A=
c.3462A= (p.Ala1154=)
c.3204A= (p.Ala1068=)
n.3836A=
c.2304A= (p.Ala768=)
n.1254A=
c.2421A= (p.Ala807=)
c.3639A= (p.Ala1213=)
c.2706A= (p.Ala902=)
c.3810A= (p.Ala1270=)
c.3657A= (p.Ala1219=)
c.3621A= (p.Ala1207=)
1g.236897049A>CCA423817902MTRc.3642A>C (p.Ala1214=)
n.4372A>C
c.3489A>C (p.Ala1163=)
c.*2684A>C (n.*2684A>C)
c.*2386A>C (n.*2386A>C)
c.3294A>C (p.Ala1098=)
n.6769A>C
c.3453A>C (p.Ala1151=)
n.6899A>C
c.3462A>C (p.Ala1154=)
c.3204A>C (p.Ala1068=)
n.3836A>C
c.2304A>C (p.Ala768=)
n.1254A>C
c.2421A>C (p.Ala807=)
c.3639A>C (p.Ala1213=)
c.2706A>C (p.Ala902=)
c.3810A>C (p.Ala1270=)
c.3657A>C (p.Ala1219=)
c.3621A>C (p.Ala1207=)
1g.236897049A>GCA1474762MTRc.3642A>G (p.Ala1214=)
n.4372A>G
c.3489A>G (p.Ala1163=)
c.*2684A>G (n.*2684A>G)
c.*2386A>G (n.*2386A>G)
c.3294A>G (p.Ala1098=)
n.6769A>G
c.3453A>G (p.Ala1151=)
n.6899A>G
c.3462A>G (p.Ala1154=)
c.3204A>G (p.Ala1068=)
n.3836A>G
c.2304A>G (p.Ala768=)
n.1254A>G
c.2421A>G (p.Ala807=)
c.3639A>G (p.Ala1213=)
c.2706A>G (p.Ala902=)
c.3810A>G (p.Ala1270=)
c.3657A>G (p.Ala1219=)
c.3621A>G (p.Ala1207=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236897049A>TCA423817903MTRc.3642A>T (p.Ala1214=)
n.4372A>T
c.3489A>T (p.Ala1163=)
c.*2684A>T (n.*2684A>T)
c.*2386A>T (n.*2386A>T)
c.3294A>T (p.Ala1098=)
n.6769A>T
c.3453A>T (p.Ala1151=)
n.6899A>T
c.3462A>T (p.Ala1154=)
c.3204A>T (p.Ala1068=)
n.3836A>T
c.2304A>T (p.Ala768=)
n.1254A>T
c.2421A>T (p.Ala807=)
c.3639A>T (p.Ala1213=)
c.2706A>T (p.Ala902=)
c.3810A>T (p.Ala1270=)
c.3657A>T (p.Ala1219=)
c.3621A>T (p.Ala1207=)
 dbSNP
1g.236897050G>ACA345391488MTRc.3643G>A (p.Val1215Ile)
n.4373G>A
c.3490G>A (p.Val1164Ile)
c.*2685G>A (n.*2685G>A)
c.*2387G>A (n.*2387G>A)
c.3295G>A (p.Val1099Ile)
n.6770G>A
c.3454G>A (p.Val1152Ile)
n.6900G>A
c.3463G>A (p.Val1155Ile)
c.3205G>A (p.Val1069Ile)
n.3837G>A
c.2305G>A (p.Val769Ile)
n.1255G>A
c.2422G>A (p.Val808Ile)
c.3640G>A (p.Val1214Ile)
c.2707G>A (p.Val903Ile)
c.3811G>A (p.Val1271Ile)
c.3658G>A (p.Val1220Ile)
c.3622G>A (p.Val1208Ile)
 gnomAD v4
1g.236897050G>CCA345391489MTRc.3643G>C (p.Val1215Leu)
n.4373G>C
c.3490G>C (p.Val1164Leu)
c.*2685G>C (n.*2685G>C)
c.*2387G>C (n.*2387G>C)
c.3295G>C (p.Val1099Leu)
n.6770G>C
c.3454G>C (p.Val1152Leu)
n.6900G>C
c.3463G>C (p.Val1155Leu)
c.3205G>C (p.Val1069Leu)
n.3837G>C
c.2305G>C (p.Val769Leu)
n.1255G>C
c.2422G>C (p.Val808Leu)
c.3640G>C (p.Val1214Leu)
c.2707G>C (p.Val903Leu)
c.3811G>C (p.Val1271Leu)
c.3658G>C (p.Val1220Leu)
c.3622G>C (p.Val1208Leu)
1g.236897050G>TCA345391493MTRc.3643G>T (p.Val1215Phe)
n.4373G>T
c.3490G>T (p.Val1164Phe)
c.*2685G>T (n.*2685G>T)
c.*2387G>T (n.*2387G>T)
c.3295G>T (p.Val1099Phe)
n.6770G>T
c.3454G>T (p.Val1152Phe)
n.6900G>T
c.3463G>T (p.Val1155Phe)
c.3205G>T (p.Val1069Phe)
n.3837G>T
c.2305G>T (p.Val769Phe)
n.1255G>T
c.2422G>T (p.Val808Phe)
c.3640G>T (p.Val1214Phe)
c.2707G>T (p.Val903Phe)
c.3811G>T (p.Val1271Phe)
c.3658G>T (p.Val1220Phe)
c.3622G>T (p.Val1208Phe)
1g.236897051T>ACA345391497MTRc.3644T>A (p.Val1215Asp)
n.4374T>A
c.3491T>A (p.Val1164Asp)
c.*2686T>A (n.*2686T>A)
c.*2388T>A (n.*2388T>A)
c.3296T>A (p.Val1099Asp)
n.6771T>A
c.3455T>A (p.Val1152Asp)
n.6901T>A
c.3464T>A (p.Val1155Asp)
c.3206T>A (p.Val1069Asp)
n.3838T>A
c.2306T>A (p.Val769Asp)
n.1256T>A
c.2423T>A (p.Val808Asp)
c.3641T>A (p.Val1214Asp)
c.2708T>A (p.Val903Asp)
c.3812T>A (p.Val1271Asp)
c.3659T>A (p.Val1220Asp)
c.3623T>A (p.Val1208Asp)
1g.236897051T>CCA345391499MTRc.3644T>C (p.Val1215Ala)
n.4374T>C
c.3491T>C (p.Val1164Ala)
c.*2686T>C (n.*2686T>C)
c.*2388T>C (n.*2388T>C)
c.3296T>C (p.Val1099Ala)
n.6771T>C
c.3455T>C (p.Val1152Ala)
n.6901T>C
c.3464T>C (p.Val1155Ala)
c.3206T>C (p.Val1069Ala)
n.3838T>C
c.2306T>C (p.Val769Ala)
n.1256T>C
c.2423T>C (p.Val808Ala)
c.3641T>C (p.Val1214Ala)
c.2708T>C (p.Val903Ala)
c.3812T>C (p.Val1271Ala)
c.3659T>C (p.Val1220Ala)
c.3623T>C (p.Val1208Ala)
1g.236897051T>GCA345391507MTRc.3644T>G (p.Val1215Gly)
n.4374T>G
c.3491T>G (p.Val1164Gly)
c.*2686T>G (n.*2686T>G)
c.*2388T>G (n.*2388T>G)
c.3296T>G (p.Val1099Gly)
n.6771T>G
c.3455T>G (p.Val1152Gly)
n.6901T>G
c.3464T>G (p.Val1155Gly)
c.3206T>G (p.Val1069Gly)
n.3838T>G
c.2306T>G (p.Val769Gly)
n.1256T>G
c.2423T>G (p.Val808Gly)
c.3641T>G (p.Val1214Gly)
c.2708T>G (p.Val903Gly)
c.3812T>G (p.Val1271Gly)
c.3659T>G (p.Val1220Gly)
c.3623T>G (p.Val1208Gly)
1g.236897052C>ACA423817904MTRc.3645C>A (p.Val1215=)
n.4375C>A
c.3492C>A (p.Val1164=)
c.*2687C>A (n.*2687C>A)
c.*2389C>A (n.*2389C>A)
c.3297C>A (p.Val1099=)
n.6772C>A
c.3456C>A (p.Val1152=)
n.6902C>A
c.3465C>A (p.Val1155=)
c.3207C>A (p.Val1069=)
n.3839C>A
c.2307C>A (p.Val769=)
n.1257C>A
c.2424C>A (p.Val808=)
c.3642C>A (p.Val1214=)
c.2709C>A (p.Val903=)
c.3813C>A (p.Val1271=)
c.3660C>A (p.Val1220=)
c.3624C>A (p.Val1208=)
1g.236897052C>GCA423817905MTRc.3645C>G (p.Val1215=)
n.4375C>G
c.3492C>G (p.Val1164=)
c.*2687C>G (n.*2687C>G)
c.*2389C>G (n.*2389C>G)
c.3297C>G (p.Val1099=)
n.6772C>G
c.3456C>G (p.Val1152=)
n.6902C>G
c.3465C>G (p.Val1155=)
c.3207C>G (p.Val1069=)
n.3839C>G
c.2307C>G (p.Val769=)
n.1257C>G
c.2424C>G (p.Val808=)
c.3642C>G (p.Val1214=)
c.2709C>G (p.Val903=)
c.3813C>G (p.Val1271=)
c.3660C>G (p.Val1220=)
c.3624C>G (p.Val1208=)
1g.236897052C>TCA423817906MTRc.3645C>T (p.Val1215=)
n.4375C>T
c.3492C>T (p.Val1164=)
c.*2687C>T (n.*2687C>T)
c.*2389C>T (n.*2389C>T)
c.3297C>T (p.Val1099=)
n.6772C>T
c.3456C>T (p.Val1152=)
n.6902C>T
c.3465C>T (p.Val1155=)
c.3207C>T (p.Val1069=)
n.3839C>T
c.2307C>T (p.Val769=)
n.1257C>T
c.2424C>T (p.Val808=)
c.3642C>T (p.Val1214=)
c.2709C>T (p.Val903=)
c.3813C>T (p.Val1271=)
c.3660C>T (p.Val1220=)
c.3624C>T (p.Val1208=)
1g.236897053T>ACA345391521MTRc.3646T>A (p.Ser1216Thr)
n.4376T>A
c.3493T>A (p.Ser1165Thr)
c.*2688T>A (n.*2688T>A)
c.*2390T>A (n.*2390T>A)
c.3298T>A (p.Ser1100Thr)
n.6773T>A
c.3457T>A (p.Ser1153Thr)
n.6903T>A
c.3466T>A (p.Ser1156Thr)
c.3208T>A (p.Ser1070Thr)
n.3840T>A
c.2308T>A (p.Ser770Thr)
n.1258T>A
c.2425T>A (p.Ser809Thr)
c.3643T>A (p.Ser1215Thr)
c.2710T>A (p.Ser904Thr)
c.3814T>A (p.Ser1272Thr)
c.3661T>A (p.Ser1221Thr)
c.3625T>A (p.Ser1209Thr)
1g.236897053T>CCA345391519MTRc.3646T>C (p.Ser1216Pro)
n.4376T>C
c.3493T>C (p.Ser1165Pro)
c.*2688T>C (n.*2688T>C)
c.*2390T>C (n.*2390T>C)
c.3298T>C (p.Ser1100Pro)
n.6773T>C
c.3457T>C (p.Ser1153Pro)
n.6903T>C
c.3466T>C (p.Ser1156Pro)
c.3208T>C (p.Ser1070Pro)
n.3840T>C
c.2308T>C (p.Ser770Pro)
n.1258T>C
c.2425T>C (p.Ser809Pro)
c.3643T>C (p.Ser1215Pro)
c.2710T>C (p.Ser904Pro)
c.3814T>C (p.Ser1272Pro)
c.3661T>C (p.Ser1221Pro)
c.3625T>C (p.Ser1209Pro)
1g.236897053T>GCA345391512MTRc.3646T>G (p.Ser1216Ala)
n.4376T>G
c.3493T>G (p.Ser1165Ala)
c.*2688T>G (n.*2688T>G)
c.*2390T>G (n.*2390T>G)
c.3298T>G (p.Ser1100Ala)
n.6773T>G
c.3457T>G (p.Ser1153Ala)
n.6903T>G
c.3466T>G (p.Ser1156Ala)
c.3208T>G (p.Ser1070Ala)
n.3840T>G
c.2308T>G (p.Ser770Ala)
n.1258T>G
c.2425T>G (p.Ser809Ala)
c.3643T>G (p.Ser1215Ala)
c.2710T>G (p.Ser904Ala)
c.3814T>G (p.Ser1272Ala)
c.3661T>G (p.Ser1221Ala)
c.3625T>G (p.Ser1209Ala)
1g.236897054C>ACA345391523MTRc.3647C>A (p.Ser1216Ter)
n.4377C>A
c.3494C>A (p.Ser1165Ter)
c.*2689C>A (n.*2689C>A)
c.*2391C>A (n.*2391C>A)
c.3299C>A (p.Ser1100Ter)
n.6774C>A
c.3458C>A (p.Ser1153Ter)
n.6904C>A
c.3467C>A (p.Ser1156Ter)
c.3209C>A (p.Ser1070Ter)
n.3841C>A
c.2309C>A (p.Ser770Ter)
n.1259C>A
c.2426C>A (p.Ser809Ter)
c.3644C>A (p.Ser1215Ter)
c.2711C>A (p.Ser904Ter)
c.3815C>A (p.Ser1272Ter)
c.3662C>A (p.Ser1221Ter)
c.3626C>A (p.Ser1209Ter)
1g.236897054C>GCA345391534MTRc.3647C>G (p.Ser1216Ter)
n.4377C>G
c.3494C>G (p.Ser1165Ter)
c.*2689C>G (n.*2689C>G)
c.*2391C>G (n.*2391C>G)
c.3299C>G (p.Ser1100Ter)
n.6774C>G
c.3458C>G (p.Ser1153Ter)
n.6904C>G
c.3467C>G (p.Ser1156Ter)
c.3209C>G (p.Ser1070Ter)
n.3841C>G
c.2309C>G (p.Ser770Ter)
n.1259C>G
c.2426C>G (p.Ser809Ter)
c.3644C>G (p.Ser1215Ter)
c.2711C>G (p.Ser904Ter)
c.3815C>G (p.Ser1272Ter)
c.3662C>G (p.Ser1221Ter)
c.3626C>G (p.Ser1209Ter)
 COSMIC
1g.236897054C>TCA345391537MTRc.3647C>T (p.Ser1216Leu)
n.4377C>T
c.3494C>T (p.Ser1165Leu)
c.*2689C>T (n.*2689C>T)
c.*2391C>T (n.*2391C>T)
c.3299C>T (p.Ser1100Leu)
n.6774C>T
c.3458C>T (p.Ser1153Leu)
n.6904C>T
c.3467C>T (p.Ser1156Leu)
c.3209C>T (p.Ser1070Leu)
n.3841C>T
c.2309C>T (p.Ser770Leu)
n.1259C>T
c.2426C>T (p.Ser809Leu)
c.3644C>T (p.Ser1215Leu)
c.2711C>T (p.Ser904Leu)
c.3815C>T (p.Ser1272Leu)
c.3662C>T (p.Ser1221Leu)
c.3626C>T (p.Ser1209Leu)
1g.236897055A=CA2487108657MTRc.3648A= (p.Ser1216=)
n.4378A=
c.3495A= (p.Ser1165=)
c.*2690A= (n.*2690A=)
c.*2392A= (n.*2392A=)
c.3300A= (p.Ser1100=)
n.6775A=
c.3459A= (p.Ser1153=)
n.6905A=
c.3468A= (p.Ser1156=)
c.3210A= (p.Ser1070=)
n.3842A=
c.2310A= (p.Ser770=)
n.1260A=
c.2427A= (p.Ser809=)
c.3645A= (p.Ser1215=)
c.2712A= (p.Ser904=)
c.3816A= (p.Ser1272=)
c.3663A= (p.Ser1221=)
c.3627A= (p.Ser1209=)
1g.236897055A>CCA423817908MTRc.3648A>C (p.Ser1216=)
n.4378A>C
c.3495A>C (p.Ser1165=)
c.*2690A>C (n.*2690A>C)
c.*2392A>C (n.*2392A>C)
c.3300A>C (p.Ser1100=)
n.6775A>C
c.3459A>C (p.Ser1153=)
n.6905A>C
c.3468A>C (p.Ser1156=)
c.3210A>C (p.Ser1070=)
n.3842A>C
c.2310A>C (p.Ser770=)
n.1260A>C
c.2427A>C (p.Ser809=)
c.3645A>C (p.Ser1215=)
c.2712A>C (p.Ser904=)
c.3816A>C (p.Ser1272=)
c.3663A>C (p.Ser1221=)
c.3627A>C (p.Ser1209=)
1g.236897055A>GCA423817909MTRc.3648A>G (p.Ser1216=)
n.4378A>G
c.3495A>G (p.Ser1165=)
c.*2690A>G (n.*2690A>G)
c.*2392A>G (n.*2392A>G)
c.3300A>G (p.Ser1100=)
n.6775A>G
c.3459A>G (p.Ser1153=)
n.6905A>G
c.3468A>G (p.Ser1156=)
c.3210A>G (p.Ser1070=)
n.3842A>G
c.2310A>G (p.Ser770=)
n.1260A>G
c.2427A>G (p.Ser809=)
c.3645A>G (p.Ser1215=)
c.2712A>G (p.Ser904=)
c.3816A>G (p.Ser1272=)
c.3663A>G (p.Ser1221=)
c.3627A>G (p.Ser1209=)
 dbSNP gnomAD v4
1g.236897055A>TCA423817907MTRc.3648A>T (p.Ser1216=)
n.4378A>T
c.3495A>T (p.Ser1165=)
c.*2690A>T (n.*2690A>T)
c.*2392A>T (n.*2392A>T)
c.3300A>T (p.Ser1100=)
n.6775A>T
c.3459A>T (p.Ser1153=)
n.6905A>T
c.3468A>T (p.Ser1156=)
c.3210A>T (p.Ser1070=)
n.3842A>T
c.2310A>T (p.Ser770=)
n.1260A>T
c.2427A>T (p.Ser809=)
c.3645A>T (p.Ser1215=)
c.2712A>T (p.Ser904=)
c.3816A>T (p.Ser1272=)
c.3663A>T (p.Ser1221=)
c.3627A>T (p.Ser1209=)
1g.236897056G>ACA345391540MTRc.3649G>A (p.Gly1217Ser)
n.4379G>A
c.3496G>A (p.Gly1166Ser)
c.*2691G>A (n.*2691G>A)
c.*2393G>A (n.*2393G>A)
c.3301G>A (p.Gly1101Ser)
n.6776G>A
c.3460G>A (p.Gly1154Ser)
n.6906G>A
c.3469G>A (p.Gly1157Ser)
c.3211G>A (p.Gly1071Ser)
n.3843G>A
c.2311G>A (p.Gly771Ser)
n.1261G>A
c.2428G>A (p.Gly810Ser)
c.3646G>A (p.Gly1216Ser)
c.2713G>A (p.Gly905Ser)
c.3817G>A (p.Gly1273Ser)
c.3664G>A (p.Gly1222Ser)
c.3628G>A (p.Gly1210Ser)
1g.236897056G>CCA345391542MTRc.3649G>C (p.Gly1217Arg)
n.4379G>C
c.3496G>C (p.Gly1166Arg)
c.*2691G>C (n.*2691G>C)
c.*2393G>C (n.*2393G>C)
c.3301G>C (p.Gly1101Arg)
n.6776G>C
c.3460G>C (p.Gly1154Arg)
n.6906G>C
c.3469G>C (p.Gly1157Arg)
c.3211G>C (p.Gly1071Arg)
n.3843G>C
c.2311G>C (p.Gly771Arg)
n.1261G>C
c.2428G>C (p.Gly810Arg)
c.3646G>C (p.Gly1216Arg)
c.2713G>C (p.Gly905Arg)
c.3817G>C (p.Gly1273Arg)
c.3664G>C (p.Gly1222Arg)
c.3628G>C (p.Gly1210Arg)
1g.236897056G>TCA345391547MTRc.3649G>T (p.Gly1217Cys)
n.4379G>T
c.3496G>T (p.Gly1166Cys)
c.*2691G>T (n.*2691G>T)
c.*2393G>T (n.*2393G>T)
c.3301G>T (p.Gly1101Cys)
n.6776G>T
c.3460G>T (p.Gly1154Cys)
n.6906G>T
c.3469G>T (p.Gly1157Cys)
c.3211G>T (p.Gly1071Cys)
n.3843G>T
c.2311G>T (p.Gly771Cys)
n.1261G>T
c.2428G>T (p.Gly810Cys)
c.3646G>T (p.Gly1216Cys)
c.2713G>T (p.Gly905Cys)
c.3817G>T (p.Gly1273Cys)
c.3664G>T (p.Gly1222Cys)
c.3628G>T (p.Gly1210Cys)
1g.236897057G>ACA345391556MTRc.3650G>A (p.Gly1217Asp)
n.4380G>A
c.3497G>A (p.Gly1166Asp)
c.*2692G>A (n.*2692G>A)
c.*2394G>A (n.*2394G>A)
c.3302G>A (p.Gly1101Asp)
n.6777G>A
c.3461G>A (p.Gly1154Asp)
n.6907G>A
c.3470G>A (p.Gly1157Asp)
c.3212G>A (p.Gly1071Asp)
n.3844G>A
c.2312G>A (p.Gly771Asp)
n.1262G>A
c.2429G>A (p.Gly810Asp)
c.3647G>A (p.Gly1216Asp)
c.2714G>A (p.Gly905Asp)
c.3818G>A (p.Gly1273Asp)
c.3665G>A (p.Gly1222Asp)
c.3629G>A (p.Gly1210Asp)
1g.236897057G>CCA345391571MTRc.3650G>C (p.Gly1217Ala)
n.4380G>C
c.3497G>C (p.Gly1166Ala)
c.*2692G>C (n.*2692G>C)
c.*2394G>C (n.*2394G>C)
c.3302G>C (p.Gly1101Ala)
n.6777G>C
c.3461G>C (p.Gly1154Ala)
n.6907G>C
c.3470G>C (p.Gly1157Ala)
c.3212G>C (p.Gly1071Ala)
n.3844G>C
c.2312G>C (p.Gly771Ala)
n.1262G>C
c.2429G>C (p.Gly810Ala)
c.3647G>C (p.Gly1216Ala)
c.2714G>C (p.Gly905Ala)
c.3818G>C (p.Gly1273Ala)
c.3665G>C (p.Gly1222Ala)
c.3629G>C (p.Gly1210Ala)
1g.236897057G=CA2487108658MTRc.3650G= (p.Gly1217=)
n.4380G=
c.3497G= (p.Gly1166=)
c.*2692G= (n.*2692G=)
c.*2394G= (n.*2394G=)
c.3302G= (p.Gly1101=)
n.6777G=
c.3461G= (p.Gly1154=)
n.6907G=
c.3470G= (p.Gly1157=)
c.3212G= (p.Gly1071=)
n.3844G=
c.2312G= (p.Gly771=)
n.1262G=
c.2429G= (p.Gly810=)
c.3647G= (p.Gly1216=)
c.2714G= (p.Gly905=)
c.3818G= (p.Gly1273=)
c.3665G= (p.Gly1222=)
c.3629G= (p.Gly1210=)
1g.236897057G>TCA345391573MTRc.3650G>T (p.Gly1217Val)
n.4380G>T
c.3497G>T (p.Gly1166Val)
c.*2692G>T (n.*2692G>T)
c.*2394G>T (n.*2394G>T)
c.3302G>T (p.Gly1101Val)
n.6777G>T
c.3461G>T (p.Gly1154Val)
n.6907G>T
c.3470G>T (p.Gly1157Val)
c.3212G>T (p.Gly1071Val)
n.3844G>T
c.2312G>T (p.Gly771Val)
n.1262G>T
c.2429G>T (p.Gly810Val)
c.3647G>T (p.Gly1216Val)
c.2714G>T (p.Gly905Val)
c.3818G>T (p.Gly1273Val)
c.3665G>T (p.Gly1222Val)
c.3629G>T (p.Gly1210Val)
 dbSNP gnomAD v2 gnomAD v4
1g.236897058C>ACA423817910MTRc.3651C>A (p.Gly1217=)
n.4381C>A
c.3498C>A (p.Gly1166=)
c.*2693C>A (n.*2693C>A)
c.*2395C>A (n.*2395C>A)
c.3303C>A (p.Gly1101=)
n.6778C>A
c.3462C>A (p.Gly1154=)
n.6908C>A
c.3471C>A (p.Gly1157=)
c.3213C>A (p.Gly1071=)
n.3845C>A
c.2313C>A (p.Gly771=)
n.1263C>A
c.2430C>A (p.Gly810=)
c.3648C>A (p.Gly1216=)
c.2715C>A (p.Gly905=)
c.3819C>A (p.Gly1273=)
c.3666C>A (p.Gly1222=)
c.3630C>A (p.Gly1210=)
1g.236897058C>GCA423817911MTRc.3651C>G (p.Gly1217=)
n.4381C>G
c.3498C>G (p.Gly1166=)
c.*2693C>G (n.*2693C>G)
c.*2395C>G (n.*2395C>G)
c.3303C>G (p.Gly1101=)
n.6778C>G
c.3462C>G (p.Gly1154=)
n.6908C>G
c.3471C>G (p.Gly1157=)
c.3213C>G (p.Gly1071=)
n.3845C>G
c.2313C>G (p.Gly771=)
n.1263C>G
c.2430C>G (p.Gly810=)
c.3648C>G (p.Gly1216=)
c.2715C>G (p.Gly905=)
c.3819C>G (p.Gly1273=)
c.3666C>G (p.Gly1222=)
c.3630C>G (p.Gly1210=)
1g.236897058C>TCA423817912MTRc.3651C>T (p.Gly1217=)
n.4381C>T
c.3498C>T (p.Gly1166=)
c.*2693C>T (n.*2693C>T)
c.*2395C>T (n.*2395C>T)
c.3303C>T (p.Gly1101=)
n.6778C>T
c.3462C>T (p.Gly1154=)
n.6908C>T
c.3471C>T (p.Gly1157=)
c.3213C>T (p.Gly1071=)
n.3845C>T
c.2313C>T (p.Gly771=)
n.1263C>T
c.2430C>T (p.Gly810=)
c.3648C>T (p.Gly1216=)
c.2715C>T (p.Gly905=)
c.3819C>T (p.Gly1273=)
c.3666C>T (p.Gly1222=)
c.3630C>T (p.Gly1210=)
1g.236897059C>ACA345391574MTRc.3652C>A (p.Leu1218Ile)
n.4382C>A
c.3499C>A (p.Leu1167Ile)
c.*2694C>A (n.*2694C>A)
c.*2396C>A (n.*2396C>A)
c.3304C>A (p.Leu1102Ile)
n.6779C>A
c.3463C>A (p.Leu1155Ile)
n.6909C>A
c.3472C>A (p.Leu1158Ile)
c.3214C>A (p.Leu1072Ile)
n.3846C>A
c.2314C>A (p.Leu772Ile)
n.1264C>A
c.2431C>A (p.Leu811Ile)
c.3649C>A (p.Leu1217Ile)
c.2716C>A (p.Leu906Ile)
c.3820C>A (p.Leu1274Ile)
c.3667C>A (p.Leu1223Ile)
c.3631C>A (p.Leu1211Ile)
1g.236897059C>GCA345391575MTRc.3652C>G (p.Leu1218Val)
n.4382C>G
c.3499C>G (p.Leu1167Val)
c.*2694C>G (n.*2694C>G)
c.*2396C>G (n.*2396C>G)
c.3304C>G (p.Leu1102Val)
n.6779C>G
c.3463C>G (p.Leu1155Val)
n.6909C>G
c.3472C>G (p.Leu1158Val)
c.3214C>G (p.Leu1072Val)
n.3846C>G
c.2314C>G (p.Leu772Val)
n.1264C>G
c.2431C>G (p.Leu811Val)
c.3649C>G (p.Leu1217Val)
c.2716C>G (p.Leu906Val)
c.3820C>G (p.Leu1274Val)
c.3667C>G (p.Leu1223Val)
c.3631C>G (p.Leu1211Val)
1g.236897059C>TCA345391576MTRc.3652C>T (p.Leu1218Phe)
n.4382C>T
c.3499C>T (p.Leu1167Phe)
c.*2694C>T (n.*2694C>T)
c.*2396C>T (n.*2396C>T)
c.3304C>T (p.Leu1102Phe)
n.6779C>T
c.3463C>T (p.Leu1155Phe)
n.6909C>T
c.3472C>T (p.Leu1158Phe)
c.3214C>T (p.Leu1072Phe)
n.3846C>T
c.2314C>T (p.Leu772Phe)
n.1264C>T
c.2431C>T (p.Leu811Phe)
c.3649C>T (p.Leu1217Phe)
c.2716C>T (p.Leu906Phe)
c.3820C>T (p.Leu1274Phe)
c.3667C>T (p.Leu1223Phe)
c.3631C>T (p.Leu1211Phe)
 gnomAD v4
1g.236897060T>ACA345391581MTRc.3653T>A (p.Leu1218His)
n.4383T>A
c.3500T>A (p.Leu1167His)
c.*2695T>A (n.*2695T>A)
c.*2397T>A (n.*2397T>A)
c.3305T>A (p.Leu1102His)
n.6780T>A
c.3464T>A (p.Leu1155His)
n.6910T>A
c.3473T>A (p.Leu1158His)
c.3215T>A (p.Leu1072His)
n.3847T>A
c.2315T>A (p.Leu772His)
n.1265T>A
c.2432T>A (p.Leu811His)
c.3650T>A (p.Leu1217His)
c.2717T>A (p.Leu906His)
c.3821T>A (p.Leu1274His)
c.3668T>A (p.Leu1223His)
c.3632T>A (p.Leu1211His)
1g.236897060T>CCA345391579MTRc.3653T>C (p.Leu1218Pro)
n.4383T>C
c.3500T>C (p.Leu1167Pro)
c.*2695T>C (n.*2695T>C)
c.*2397T>C (n.*2397T>C)
c.3305T>C (p.Leu1102Pro)
n.6780T>C
c.3464T>C (p.Leu1155Pro)
n.6910T>C
c.3473T>C (p.Leu1158Pro)
c.3215T>C (p.Leu1072Pro)
n.3847T>C
c.2315T>C (p.Leu772Pro)
n.1265T>C
c.2432T>C (p.Leu811Pro)
c.3650T>C (p.Leu1217Pro)
c.2717T>C (p.Leu906Pro)
c.3821T>C (p.Leu1274Pro)
c.3668T>C (p.Leu1223Pro)
c.3632T>C (p.Leu1211Pro)
1g.236897060T>GCA345391577MTRc.3653T>G (p.Leu1218Arg)
n.4383T>G
c.3500T>G (p.Leu1167Arg)
c.*2695T>G (n.*2695T>G)
c.*2397T>G (n.*2397T>G)
c.3305T>G (p.Leu1102Arg)
n.6780T>G
c.3464T>G (p.Leu1155Arg)
n.6910T>G
c.3473T>G (p.Leu1158Arg)
c.3215T>G (p.Leu1072Arg)
n.3847T>G
c.2315T>G (p.Leu772Arg)
n.1265T>G
c.2432T>G (p.Leu811Arg)
c.3650T>G (p.Leu1217Arg)
c.2717T>G (p.Leu906Arg)
c.3821T>G (p.Leu1274Arg)
c.3668T>G (p.Leu1223Arg)
c.3632T>G (p.Leu1211Arg)
1g.236897061C>ACA423817913MTRc.3654C>A (p.Leu1218=)
n.4384C>A
c.3501C>A (p.Leu1167=)
c.*2696C>A (n.*2696C>A)
c.*2398C>A (n.*2398C>A)
c.3306C>A (p.Leu1102=)
n.6781C>A
c.3465C>A (p.Leu1155=)
n.6911C>A
c.3474C>A (p.Leu1158=)
c.3216C>A (p.Leu1072=)
n.3848C>A
c.2316C>A (p.Leu772=)
n.1266C>A
c.2433C>A (p.Leu811=)
c.3651C>A (p.Leu1217=)
c.2718C>A (p.Leu906=)
c.3822C>A (p.Leu1274=)
c.3669C>A (p.Leu1223=)
c.3633C>A (p.Leu1211=)
1g.236897061C>GCA423817914MTRc.3654C>G (p.Leu1218=)
n.4384C>G
c.3501C>G (p.Leu1167=)
c.*2696C>G (n.*2696C>G)
c.*2398C>G (n.*2398C>G)
c.3306C>G (p.Leu1102=)
n.6781C>G
c.3465C>G (p.Leu1155=)
n.6911C>G
c.3474C>G (p.Leu1158=)
c.3216C>G (p.Leu1072=)
n.3848C>G
c.2316C>G (p.Leu772=)
n.1266C>G
c.2433C>G (p.Leu811=)
c.3651C>G (p.Leu1217=)
c.2718C>G (p.Leu906=)
c.3822C>G (p.Leu1274=)
c.3669C>G (p.Leu1223=)
c.3633C>G (p.Leu1211=)
 gnomAD v4
1g.236897061C>TCA423817915MTRc.3654C>T (p.Leu1218=)
n.4384C>T
c.3501C>T (p.Leu1167=)
c.*2696C>T (n.*2696C>T)
c.*2398C>T (n.*2398C>T)
c.3306C>T (p.Leu1102=)
n.6781C>T
c.3465C>T (p.Leu1155=)
n.6911C>T
c.3474C>T (p.Leu1158=)
c.3216C>T (p.Leu1072=)
n.3848C>T
c.2316C>T (p.Leu772=)
n.1266C>T
c.2433C>T (p.Leu811=)
c.3651C>T (p.Leu1217=)
c.2718C>T (p.Leu906=)
c.3822C>T (p.Leu1274=)
c.3669C>T (p.Leu1223=)
c.3633C>T (p.Leu1211=)
1g.236897062T>ACA345391584MTRc.3655T>A (p.Tyr1219Asn)
n.4385T>A
c.3502T>A (p.Tyr1168Asn)
c.*2697T>A (n.*2697T>A)
c.*2399T>A (n.*2399T>A)
c.3307T>A (p.Tyr1103Asn)
n.6782T>A
c.3466T>A (p.Tyr1156Asn)
n.6912T>A
c.3475T>A (p.Tyr1159Asn)
c.3217T>A (p.Tyr1073Asn)
n.3849T>A
c.2317T>A (p.Tyr773Asn)
n.1267T>A
c.2434T>A (p.Tyr812Asn)
c.3652T>A (p.Tyr1218Asn)
c.2719T>A (p.Tyr907Asn)
c.3823T>A (p.Tyr1275Asn)
c.3670T>A (p.Tyr1224Asn)
c.3634T>A (p.Tyr1212Asn)
1g.236897062T>CCA345391589MTRc.3655T>C (p.Tyr1219His)
n.4385T>C
c.3502T>C (p.Tyr1168His)
c.*2697T>C (n.*2697T>C)
c.*2399T>C (n.*2399T>C)
c.3307T>C (p.Tyr1103His)
n.6782T>C
c.3466T>C (p.Tyr1156His)
n.6912T>C
c.3475T>C (p.Tyr1159His)
c.3217T>C (p.Tyr1073His)
n.3849T>C
c.2317T>C (p.Tyr773His)
n.1267T>C
c.2434T>C (p.Tyr812His)
c.3652T>C (p.Tyr1218His)
c.2719T>C (p.Tyr907His)
c.3823T>C (p.Tyr1275His)
c.3670T>C (p.Tyr1224His)
c.3634T>C (p.Tyr1212His)
1g.236897062T>GCA345391586MTRc.3655T>G (p.Tyr1219Asp)
n.4385T>G
c.3502T>G (p.Tyr1168Asp)
c.*2697T>G (n.*2697T>G)
c.*2399T>G (n.*2399T>G)
c.3307T>G (p.Tyr1103Asp)
n.6782T>G
c.3466T>G (p.Tyr1156Asp)
n.6912T>G
c.3475T>G (p.Tyr1159Asp)
c.3217T>G (p.Tyr1073Asp)
n.3849T>G
c.2317T>G (p.Tyr773Asp)
n.1267T>G
c.2434T>G (p.Tyr812Asp)
c.3652T>G (p.Tyr1218Asp)
c.2719T>G (p.Tyr907Asp)
c.3823T>G (p.Tyr1275Asp)
c.3670T>G (p.Tyr1224Asp)
c.3634T>G (p.Tyr1212Asp)
1g.236897063A>CCA345391592MTRc.3656A>C (p.Tyr1219Ser)
n.4386A>C
c.3503A>C (p.Tyr1168Ser)
c.*2698A>C (n.*2698A>C)
c.*2400A>C (n.*2400A>C)
c.3308A>C (p.Tyr1103Ser)
n.6783A>C
c.3467A>C (p.Tyr1156Ser)
n.6913A>C
c.3476A>C (p.Tyr1159Ser)
c.3218A>C (p.Tyr1073Ser)
n.3850A>C
c.2318A>C (p.Tyr773Ser)
n.1268A>C
c.2435A>C (p.Tyr812Ser)
c.3653A>C (p.Tyr1218Ser)
c.2720A>C (p.Tyr907Ser)
c.3824A>C (p.Tyr1275Ser)
c.3671A>C (p.Tyr1224Ser)
c.3635A>C (p.Tyr1212Ser)
1g.236897063A>GCA345391601MTRc.3656A>G (p.Tyr1219Cys)
n.4386A>G
c.3503A>G (p.Tyr1168Cys)
c.*2698A>G (n.*2698A>G)
c.*2400A>G (n.*2400A>G)
c.3308A>G (p.Tyr1103Cys)
n.6783A>G
c.3467A>G (p.Tyr1156Cys)
n.6913A>G
c.3476A>G (p.Tyr1159Cys)
c.3218A>G (p.Tyr1073Cys)
n.3850A>G
c.2318A>G (p.Tyr773Cys)
n.1268A>G
c.2435A>G (p.Tyr812Cys)
c.3653A>G (p.Tyr1218Cys)
c.2720A>G (p.Tyr907Cys)
c.3824A>G (p.Tyr1275Cys)
c.3671A>G (p.Tyr1224Cys)
c.3635A>G (p.Tyr1212Cys)
 gnomAD v4
1g.236897063A>TCA345391596MTRc.3656A>T (p.Tyr1219Phe)
n.4386A>T
c.3503A>T (p.Tyr1168Phe)
c.*2698A>T (n.*2698A>T)
c.*2400A>T (n.*2400A>T)
c.3308A>T (p.Tyr1103Phe)
n.6783A>T
c.3467A>T (p.Tyr1156Phe)
n.6913A>T
c.3476A>T (p.Tyr1159Phe)
c.3218A>T (p.Tyr1073Phe)
n.3850A>T
c.2318A>T (p.Tyr773Phe)
n.1268A>T
c.2435A>T (p.Tyr812Phe)
c.3653A>T (p.Tyr1218Phe)
c.2720A>T (p.Tyr907Phe)
c.3824A>T (p.Tyr1275Phe)
c.3671A>T (p.Tyr1224Phe)
c.3635A>T (p.Tyr1212Phe)
1g.236897064delCA2651190774MTRc.3657del (p.Phe1220SerfsTer4)
n.4387del
c.3504del (p.Phe1169SerfsTer4)
c.*2699del (n.*2699del)
c.*2401del (n.*2401del)
c.3309del (p.Phe1104SerfsTer4)
n.6784del
c.3468del (p.Phe1157SerfsTer4)
n.6914del
c.3477del (p.Phe1160SerfsTer4)
c.3219del (p.Phe1074SerfsTer4)
n.3851del
c.2319del (p.Phe774SerfsTer4)
n.1269del
c.2436del (p.Phe813SerfsTer4)
c.3654del (p.Phe1219SerfsTer4)
c.2721del (p.Phe908SerfsTer4)
c.3825del (p.Phe1276SerfsTer4)
c.3672del (p.Phe1225SerfsTer4)
c.3636del (p.Phe1213SerfsTer4)
 gnomAD v4
1g.236897064C>ACA345391603MTRc.3657C>A (p.Tyr1219Ter)
n.4387C>A
c.3504C>A (p.Tyr1168Ter)
c.*2699C>A (n.*2699C>A)
c.*2401C>A (n.*2401C>A)
c.3309C>A (p.Tyr1103Ter)
n.6784C>A
c.3468C>A (p.Tyr1156Ter)
n.6914C>A
c.3477C>A (p.Tyr1159Ter)
c.3219C>A (p.Tyr1073Ter)
n.3851C>A
c.2319C>A (p.Tyr773Ter)
n.1269C>A
c.2436C>A (p.Tyr812Ter)
c.3654C>A (p.Tyr1218Ter)
c.2721C>A (p.Tyr907Ter)
c.3825C>A (p.Tyr1275Ter)
c.3672C>A (p.Tyr1224Ter)
c.3636C>A (p.Tyr1212Ter)
1g.236897064C>GCA345391607MTRc.3657C>G (p.Tyr1219Ter)
n.4387C>G
c.3504C>G (p.Tyr1168Ter)
c.*2699C>G (n.*2699C>G)
c.*2401C>G (n.*2401C>G)
c.3309C>G (p.Tyr1103Ter)
n.6784C>G
c.3468C>G (p.Tyr1156Ter)
n.6914C>G
c.3477C>G (p.Tyr1159Ter)
c.3219C>G (p.Tyr1073Ter)
n.3851C>G
c.2319C>G (p.Tyr773Ter)
n.1269C>G
c.2436C>G (p.Tyr812Ter)
c.3654C>G (p.Tyr1218Ter)
c.2721C>G (p.Tyr907Ter)
c.3825C>G (p.Tyr1275Ter)
c.3672C>G (p.Tyr1224Ter)
c.3636C>G (p.Tyr1212Ter)
1g.236897064C>TCA423817916MTRc.3657C>T (p.Tyr1219=)
n.4387C>T
c.3504C>T (p.Tyr1168=)
c.*2699C>T (n.*2699C>T)
c.*2401C>T (n.*2401C>T)
c.3309C>T (p.Tyr1103=)
n.6784C>T
c.3468C>T (p.Tyr1156=)
n.6914C>T
c.3477C>T (p.Tyr1159=)
c.3219C>T (p.Tyr1073=)
n.3851C>T
c.2319C>T (p.Tyr773=)
n.1269C>T
c.2436C>T (p.Tyr812=)
c.3654C>T (p.Tyr1218=)
c.2721C>T (p.Tyr907=)
c.3825C>T (p.Tyr1275=)
c.3672C>T (p.Tyr1224=)
c.3636C>T (p.Tyr1212=)
 gnomAD v4
1g.236897065T>ACA345391611MTRc.3658T>A (p.Phe1220Ile)
n.4388T>A
c.3505T>A (p.Phe1169Ile)
c.*2700T>A (n.*2700T>A)
c.*2402T>A (n.*2402T>A)
c.3310T>A (p.Phe1104Ile)
n.6785T>A
c.3469T>A (p.Phe1157Ile)
n.6915T>A
c.3478T>A (p.Phe1160Ile)
c.3220T>A (p.Phe1074Ile)
n.3852T>A
c.2320T>A (p.Phe774Ile)
n.1270T>A
c.2437T>A (p.Phe813Ile)
c.3655T>A (p.Phe1219Ile)
c.2722T>A (p.Phe908Ile)
c.3826T>A (p.Phe1276Ile)
c.3673T>A (p.Phe1225Ile)
c.3637T>A (p.Phe1213Ile)
 gnomAD v4
1g.236897065T>CCA345391612MTRc.3658T>C (p.Phe1220Leu)
n.4388T>C
c.3505T>C (p.Phe1169Leu)
c.*2700T>C (n.*2700T>C)
c.*2402T>C (n.*2402T>C)
c.3310T>C (p.Phe1104Leu)
n.6785T>C
c.3469T>C (p.Phe1157Leu)
n.6915T>C
c.3478T>C (p.Phe1160Leu)
c.3220T>C (p.Phe1074Leu)
n.3852T>C
c.2320T>C (p.Phe774Leu)
n.1270T>C
c.2437T>C (p.Phe813Leu)
c.3655T>C (p.Phe1219Leu)
c.2722T>C (p.Phe908Leu)
c.3826T>C (p.Phe1276Leu)
c.3673T>C (p.Phe1225Leu)
c.3637T>C (p.Phe1213Leu)
 gnomAD v4
1g.236897065T>GCA345391620MTRc.3658T>G (p.Phe1220Val)
n.4388T>G
c.3505T>G (p.Phe1169Val)
c.*2700T>G (n.*2700T>G)
c.*2402T>G (n.*2402T>G)
c.3310T>G (p.Phe1104Val)
n.6785T>G
c.3469T>G (p.Phe1157Val)
n.6915T>G
c.3478T>G (p.Phe1160Val)
c.3220T>G (p.Phe1074Val)
n.3852T>G
c.2320T>G (p.Phe774Val)
n.1270T>G
c.2437T>G (p.Phe813Val)
c.3655T>G (p.Phe1219Val)
c.2722T>G (p.Phe908Val)
c.3826T>G (p.Phe1276Val)
c.3673T>G (p.Phe1225Val)
c.3637T>G (p.Phe1213Val)
1g.236897066T>ACA345391622MTRc.3659T>A (p.Phe1220Tyr)
n.4389T>A
c.3506T>A (p.Phe1169Tyr)
c.*2701T>A (n.*2701T>A)
c.*2403T>A (n.*2403T>A)
c.3311T>A (p.Phe1104Tyr)
n.6786T>A
c.3470T>A (p.Phe1157Tyr)
n.6916T>A
c.3479T>A (p.Phe1160Tyr)
c.3221T>A (p.Phe1074Tyr)
n.3853T>A
c.2321T>A (p.Phe774Tyr)
n.1271T>A
c.2438T>A (p.Phe813Tyr)
c.3656T>A (p.Phe1219Tyr)
c.2723T>A (p.Phe908Tyr)
c.3827T>A (p.Phe1276Tyr)
c.3674T>A (p.Phe1225Tyr)
c.3638T>A (p.Phe1213Tyr)
 gnomAD v4
1g.236897066T>CCA345391626MTRc.3659T>C (p.Phe1220Ser)
n.4389T>C
c.3506T>C (p.Phe1169Ser)
c.*2701T>C (n.*2701T>C)
c.*2403T>C (n.*2403T>C)
c.3311T>C (p.Phe1104Ser)
n.6786T>C
c.3470T>C (p.Phe1157Ser)
n.6916T>C
c.3479T>C (p.Phe1160Ser)
c.3221T>C (p.Phe1074Ser)
n.3853T>C
c.2321T>C (p.Phe774Ser)
n.1271T>C
c.2438T>C (p.Phe813Ser)
c.3656T>C (p.Phe1219Ser)
c.2723T>C (p.Phe908Ser)
c.3827T>C (p.Phe1276Ser)
c.3674T>C (p.Phe1225Ser)
c.3638T>C (p.Phe1213Ser)
1g.236897066T>GCA345391627MTRc.3659T>G (p.Phe1220Cys)
n.4389T>G
c.3506T>G (p.Phe1169Cys)
c.*2701T>G (n.*2701T>G)
c.*2403T>G (n.*2403T>G)
c.3311T>G (p.Phe1104Cys)
n.6786T>G
c.3470T>G (p.Phe1157Cys)
n.6916T>G
c.3479T>G (p.Phe1160Cys)
c.3221T>G (p.Phe1074Cys)
n.3853T>G
c.2321T>G (p.Phe774Cys)
n.1271T>G
c.2438T>G (p.Phe813Cys)
c.3656T>G (p.Phe1219Cys)
c.2723T>G (p.Phe908Cys)
c.3827T>G (p.Phe1276Cys)
c.3674T>G (p.Phe1225Cys)
c.3638T>G (p.Phe1213Cys)
1g.236897067C>ACA345391628MTRc.3660C>A (p.Phe1220Leu)
n.4390C>A
c.3507C>A (p.Phe1169Leu)
c.*2702C>A (n.*2702C>A)
c.*2404C>A (n.*2404C>A)
c.3312C>A (p.Phe1104Leu)
n.6787C>A
c.3471C>A (p.Phe1157Leu)
n.6917C>A
c.3480C>A (p.Phe1160Leu)
c.3222C>A (p.Phe1074Leu)
n.3854C>A
c.2322C>A (p.Phe774Leu)
n.1272C>A
c.2439C>A (p.Phe813Leu)
c.3657C>A (p.Phe1219Leu)
c.2724C>A (p.Phe908Leu)
c.3828C>A (p.Phe1276Leu)
c.3675C>A (p.Phe1225Leu)
c.3639C>A (p.Phe1213Leu)
1g.236897067C>GCA345391629MTRc.3660C>G (p.Phe1220Leu)
n.4390C>G
c.3507C>G (p.Phe1169Leu)
c.*2702C>G (n.*2702C>G)
c.*2404C>G (n.*2404C>G)
c.3312C>G (p.Phe1104Leu)
n.6787C>G
c.3471C>G (p.Phe1157Leu)
n.6917C>G
c.3480C>G (p.Phe1160Leu)
c.3222C>G (p.Phe1074Leu)
n.3854C>G
c.2322C>G (p.Phe774Leu)
n.1272C>G
c.2439C>G (p.Phe813Leu)
c.3657C>G (p.Phe1219Leu)
c.2724C>G (p.Phe908Leu)
c.3828C>G (p.Phe1276Leu)
c.3675C>G (p.Phe1225Leu)
c.3639C>G (p.Phe1213Leu)
1g.236897067C>TCA423817917MTRc.3660C>T (p.Phe1220=)
n.4390C>T
c.3507C>T (p.Phe1169=)
c.*2702C>T (n.*2702C>T)
c.*2404C>T (n.*2404C>T)
c.3312C>T (p.Phe1104=)
n.6787C>T
c.3471C>T (p.Phe1157=)
n.6917C>T
c.3480C>T (p.Phe1160=)
c.3222C>T (p.Phe1074=)
n.3854C>T
c.2322C>T (p.Phe774=)
n.1272C>T
c.2439C>T (p.Phe813=)
c.3657C>T (p.Phe1219=)
c.2724C>T (p.Phe908=)
c.3828C>T (p.Phe1276=)
c.3675C>T (p.Phe1225=)
c.3639C>T (p.Phe1213=)
1g.236897068T>ACA345391631MTRc.3661T>A (p.Ser1221Thr)
n.4391T>A
c.3508T>A (p.Ser1170Thr)
c.*2703T>A (n.*2703T>A)
c.*2405T>A (n.*2405T>A)
c.3313T>A (p.Ser1105Thr)
n.6788T>A
c.3472T>A (p.Ser1158Thr)
n.6918T>A
c.3481T>A (p.Ser1161Thr)
c.3223T>A (p.Ser1075Thr)
n.3855T>A
c.2323T>A (p.Ser775Thr)
n.1273T>A
c.2440T>A (p.Ser814Thr)
c.3658T>A (p.Ser1220Thr)
c.2725T>A (p.Ser909Thr)
c.3829T>A (p.Ser1277Thr)
c.3676T>A (p.Ser1226Thr)
c.3640T>A (p.Ser1214Thr)
1g.236897068T>CCA345391634MTRc.3661T>C (p.Ser1221Pro)
n.4391T>C
c.3508T>C (p.Ser1170Pro)
c.*2703T>C (n.*2703T>C)
c.*2405T>C (n.*2405T>C)
c.3313T>C (p.Ser1105Pro)
n.6788T>C
c.3472T>C (p.Ser1158Pro)
n.6918T>C
c.3481T>C (p.Ser1161Pro)
c.3223T>C (p.Ser1075Pro)
n.3855T>C
c.2323T>C (p.Ser775Pro)
n.1273T>C
c.2440T>C (p.Ser814Pro)
c.3658T>C (p.Ser1220Pro)
c.2725T>C (p.Ser909Pro)
c.3829T>C (p.Ser1277Pro)
c.3676T>C (p.Ser1226Pro)
c.3640T>C (p.Ser1214Pro)
1g.236897068T>GCA345391636MTRc.3661T>G (p.Ser1221Ala)
n.4391T>G
c.3508T>G (p.Ser1170Ala)
c.*2703T>G (n.*2703T>G)
c.*2405T>G (n.*2405T>G)
c.3313T>G (p.Ser1105Ala)
n.6788T>G
c.3472T>G (p.Ser1158Ala)
n.6918T>G
c.3481T>G (p.Ser1161Ala)
c.3223T>G (p.Ser1075Ala)
n.3855T>G
c.2323T>G (p.Ser775Ala)
n.1273T>G
c.2440T>G (p.Ser814Ala)
c.3658T>G (p.Ser1220Ala)
c.2725T>G (p.Ser909Ala)
c.3829T>G (p.Ser1277Ala)
c.3676T>G (p.Ser1226Ala)
c.3640T>G (p.Ser1214Ala)
 dbSNP
1g.236897068T=CA2487108659MTRc.3661T= (p.Ser1221=)
n.4391T=
c.3508T= (p.Ser1170=)
c.*2703T= (n.*2703T=)
c.*2405T= (n.*2405T=)
c.3313T= (p.Ser1105=)
n.6788T=
c.3472T= (p.Ser1158=)
n.6918T=
c.3481T= (p.Ser1161=)
c.3223T= (p.Ser1075=)
n.3855T=
c.2323T= (p.Ser775=)
n.1273T=
c.2440T= (p.Ser814=)
c.3658T= (p.Ser1220=)
c.2725T= (p.Ser909=)
c.3829T= (p.Ser1277=)
c.3676T= (p.Ser1226=)
c.3640T= (p.Ser1214=)
1g.236897069C>ACA345391641MTRc.3662C>A (p.Ser1221Tyr)
n.4392C>A
c.3509C>A (p.Ser1170Tyr)
c.*2704C>A (n.*2704C>A)
c.*2406C>A (n.*2406C>A)
c.3314C>A (p.Ser1105Tyr)
n.6789C>A
c.3473C>A (p.Ser1158Tyr)
n.6919C>A
c.3482C>A (p.Ser1161Tyr)
c.3224C>A (p.Ser1075Tyr)
n.3856C>A
c.2324C>A (p.Ser775Tyr)
n.1274C>A
c.2441C>A (p.Ser814Tyr)
c.3659C>A (p.Ser1220Tyr)
c.2726C>A (p.Ser909Tyr)
c.3830C>A (p.Ser1277Tyr)
c.3677C>A (p.Ser1226Tyr)
c.3641C>A (p.Ser1214Tyr)
1g.236897069C=CA2487108660MTRc.3662C= (p.Ser1221=)
n.4392C=
c.3509C= (p.Ser1170=)
c.*2704C= (n.*2704C=)
c.*2406C= (n.*2406C=)
c.3314C= (p.Ser1105=)
n.6789C=
c.3473C= (p.Ser1158=)
n.6919C=
c.3482C= (p.Ser1161=)
c.3224C= (p.Ser1075=)
n.3856C=
c.2324C= (p.Ser775=)
n.1274C=
c.2441C= (p.Ser814=)
c.3659C= (p.Ser1220=)
c.2726C= (p.Ser909=)
c.3830C= (p.Ser1277=)
c.3677C= (p.Ser1226=)
c.3641C= (p.Ser1214=)
1g.236897069C>GCA39767200MTRc.3662C>G (p.Ser1221Cys)
n.4392C>G
c.3509C>G (p.Ser1170Cys)
c.*2704C>G (n.*2704C>G)
c.*2406C>G (n.*2406C>G)
c.3314C>G (p.Ser1105Cys)
n.6789C>G
c.3473C>G (p.Ser1158Cys)
n.6919C>G
c.3482C>G (p.Ser1161Cys)
c.3224C>G (p.Ser1075Cys)
n.3856C>G
c.2324C>G (p.Ser775Cys)
n.1274C>G
c.2441C>G (p.Ser814Cys)
c.3659C>G (p.Ser1220Cys)
c.2726C>G (p.Ser909Cys)
c.3830C>G (p.Ser1277Cys)
c.3677C>G (p.Ser1226Cys)
c.3641C>G (p.Ser1214Cys)
 dbSNP
1g.236897069C>TCA39767198MTRc.3662C>T (p.Ser1221Phe)
n.4392C>T
c.3509C>T (p.Ser1170Phe)
c.*2704C>T (n.*2704C>T)
c.*2406C>T (n.*2406C>T)
c.3314C>T (p.Ser1105Phe)
n.6789C>T
c.3473C>T (p.Ser1158Phe)
n.6919C>T
c.3482C>T (p.Ser1161Phe)
c.3224C>T (p.Ser1075Phe)
n.3856C>T
c.2324C>T (p.Ser775Phe)
n.1274C>T
c.2441C>T (p.Ser814Phe)
c.3659C>T (p.Ser1220Phe)
c.2726C>T (p.Ser909Phe)
c.3830C>T (p.Ser1277Phe)
c.3677C>T (p.Ser1226Phe)
c.3641C>T (p.Ser1214Phe)
 dbSNP gnomAD v2 gnomAD v4
1g.236897070C>ACA423817918MTRc.3663C>A (p.Ser1221=)
n.4393C>A
c.3510C>A (p.Ser1170=)
c.*2705C>A (n.*2705C>A)
c.*2407C>A (n.*2407C>A)
c.3315C>A (p.Ser1105=)
n.6790C>A
c.3474C>A (p.Ser1158=)
n.6920C>A
c.3483C>A (p.Ser1161=)
c.3225C>A (p.Ser1075=)
n.3857C>A
c.2325C>A (p.Ser775=)
n.1275C>A
c.2442C>A (p.Ser814=)
c.3660C>A (p.Ser1220=)
c.2727C>A (p.Ser909=)
c.3831C>A (p.Ser1277=)
c.3678C>A (p.Ser1226=)
c.3642C>A (p.Ser1214=)
1g.236897070C>GCA423817919MTRc.3663C>G (p.Ser1221=)
n.4393C>G
c.3510C>G (p.Ser1170=)
c.*2705C>G (n.*2705C>G)
c.*2407C>G (n.*2407C>G)
c.3315C>G (p.Ser1105=)
n.6790C>G
c.3474C>G (p.Ser1158=)
n.6920C>G
c.3483C>G (p.Ser1161=)
c.3225C>G (p.Ser1075=)
n.3857C>G
c.2325C>G (p.Ser775=)
n.1275C>G
c.2442C>G (p.Ser814=)
c.3660C>G (p.Ser1220=)
c.2727C>G (p.Ser909=)
c.3831C>G (p.Ser1277=)
c.3678C>G (p.Ser1226=)
c.3642C>G (p.Ser1214=)
1g.236897070C>TCA423817920MTRc.3663C>T (p.Ser1221=)
n.4393C>T
c.3510C>T (p.Ser1170=)
c.*2705C>T (n.*2705C>T)
c.*2407C>T (n.*2407C>T)
c.3315C>T (p.Ser1105=)
n.6790C>T
c.3474C>T (p.Ser1158=)
n.6920C>T
c.3483C>T (p.Ser1161=)
c.3225C>T (p.Ser1075=)
n.3857C>T
c.2325C>T (p.Ser775=)
n.1275C>T
c.2442C>T (p.Ser814=)
c.3660C>T (p.Ser1220=)
c.2727C>T (p.Ser909=)
c.3831C>T (p.Ser1277=)
c.3678C>T (p.Ser1226=)
c.3642C>T (p.Ser1214=)
 gnomAD v4
1g.236897071A>CCA345391649MTRc.3664A>C (p.Asn1222His)
n.4394A>C
c.3511A>C (p.Asn1171His)
c.*2706A>C (n.*2706A>C)
c.*2408A>C (n.*2408A>C)
c.3316A>C (p.Asn1106His)
n.6791A>C
c.3475A>C (p.Asn1159His)
n.6921A>C
c.3484A>C (p.Asn1162His)
c.3226A>C (p.Asn1076His)
n.3858A>C
c.2326A>C (p.Asn776His)
n.1276A>C
c.2443A>C (p.Asn815His)
c.3661A>C (p.Asn1221His)
c.2728A>C (p.Asn910His)
c.3832A>C (p.Asn1278His)
c.3679A>C (p.Asn1227His)
c.3643A>C (p.Asn1215His)
1g.236897071A>GCA345391654MTRc.3664A>G (p.Asn1222Asp)
n.4394A>G
c.3511A>G (p.Asn1171Asp)
c.*2706A>G (n.*2706A>G)
c.*2408A>G (n.*2408A>G)
c.3316A>G (p.Asn1106Asp)
n.6791A>G
c.3475A>G (p.Asn1159Asp)
n.6921A>G
c.3484A>G (p.Asn1162Asp)
c.3226A>G (p.Asn1076Asp)
n.3858A>G
c.2326A>G (p.Asn776Asp)
n.1276A>G
c.2443A>G (p.Asn815Asp)
c.3661A>G (p.Asn1221Asp)
c.2728A>G (p.Asn910Asp)
c.3832A>G (p.Asn1278Asp)
c.3679A>G (p.Asn1227Asp)
c.3643A>G (p.Asn1215Asp)
1g.236897071A>TCA345391661MTRc.3664A>T (p.Asn1222Tyr)
n.4394A>T
c.3511A>T (p.Asn1171Tyr)
c.*2706A>T (n.*2706A>T)
c.*2408A>T (n.*2408A>T)
c.3316A>T (p.Asn1106Tyr)
n.6791A>T
c.3475A>T (p.Asn1159Tyr)
n.6921A>T
c.3484A>T (p.Asn1162Tyr)
c.3226A>T (p.Asn1076Tyr)
n.3858A>T
c.2326A>T (p.Asn776Tyr)
n.1276A>T
c.2443A>T (p.Asn815Tyr)
c.3661A>T (p.Asn1221Tyr)
c.2728A>T (p.Asn910Tyr)
c.3832A>T (p.Asn1278Tyr)
c.3679A>T (p.Asn1227Tyr)
c.3643A>T (p.Asn1215Tyr)
1g.236897072A=CA1140725418MTRc.3665A= (p.Asn1222=)
n.4395A=
c.3512A= (p.Asn1171=)
c.*2707A= (n.*2707A=)
c.*2409A= (n.*2409A=)
c.3317A= (p.Asn1106=)
n.6792A=
c.3476A= (p.Asn1159=)
n.6922A=
c.3485A= (p.Asn1162=)
c.3227A= (p.Asn1076=)
n.3859A=
c.2327A= (p.Asn776=)
n.1277A=
c.2444A= (p.Asn815=)
c.3662A= (p.Asn1221=)
c.2729A= (p.Asn910=)
c.3833A= (p.Asn1278=)
c.3680A= (p.Asn1227=)
c.3644A= (p.Asn1215=)
1g.236897072A>CCA345391664MTRc.3665A>C (p.Asn1222Thr)
n.4395A>C
c.3512A>C (p.Asn1171Thr)
c.*2707A>C (n.*2707A>C)
c.*2409A>C (n.*2409A>C)
c.3317A>C (p.Asn1106Thr)
n.6792A>C
c.3476A>C (p.Asn1159Thr)
n.6922A>C
c.3485A>C (p.Asn1162Thr)
c.3227A>C (p.Asn1076Thr)
n.3859A>C
c.2327A>C (p.Asn776Thr)
n.1277A>C
c.2444A>C (p.Asn815Thr)
c.3662A>C (p.Asn1221Thr)
c.2729A>C (p.Asn910Thr)
c.3833A>C (p.Asn1278Thr)
c.3680A>C (p.Asn1227Thr)
c.3644A>C (p.Asn1215Thr)
1g.236897072A>GCA1474763MTRc.3665A>G (p.Asn1222Ser)
n.4395A>G
c.3512A>G (p.Asn1171Ser)
c.*2707A>G (n.*2707A>G)
c.*2409A>G (n.*2409A>G)
c.3317A>G (p.Asn1106Ser)
n.6792A>G
c.3476A>G (p.Asn1159Ser)
n.6922A>G
c.3485A>G (p.Asn1162Ser)
c.3227A>G (p.Asn1076Ser)
n.3859A>G
c.2327A>G (p.Asn776Ser)
n.1277A>G
c.2444A>G (p.Asn815Ser)
c.3662A>G (p.Asn1221Ser)
c.2729A>G (p.Asn910Ser)
c.3833A>G (p.Asn1278Ser)
c.3680A>G (p.Asn1227Ser)
c.3644A>G (p.Asn1215Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236897072A>TCA345391667MTRc.3665A>T (p.Asn1222Ile)
n.4395A>T
c.3512A>T (p.Asn1171Ile)
c.*2707A>T (n.*2707A>T)
c.*2409A>T (n.*2409A>T)
c.3317A>T (p.Asn1106Ile)
n.6792A>T
c.3476A>T (p.Asn1159Ile)
n.6922A>T
c.3485A>T (p.Asn1162Ile)
c.3227A>T (p.Asn1076Ile)
n.3859A>T
c.2327A>T (p.Asn776Ile)
n.1277A>T
c.2444A>T (p.Asn815Ile)
c.3662A>T (p.Asn1221Ile)
c.2729A>T (p.Asn910Ile)
c.3833A>T (p.Asn1278Ile)
c.3680A>T (p.Asn1227Ile)
c.3644A>T (p.Asn1215Ile)
1g.236897073T>ACA345391674MTRc.3666T>A (p.Asn1222Lys)
n.4396T>A
c.3513T>A (p.Asn1171Lys)
c.*2708T>A (n.*2708T>A)
c.*2410T>A (n.*2410T>A)
c.3318T>A (p.Asn1106Lys)
n.6793T>A
c.3477T>A (p.Asn1159Lys)
n.6923T>A
c.3486T>A (p.Asn1162Lys)
c.3228T>A (p.Asn1076Lys)
n.3860T>A
c.2328T>A (p.Asn776Lys)
n.1278T>A
c.2445T>A (p.Asn815Lys)
c.3663T>A (p.Asn1221Lys)
c.2730T>A (p.Asn910Lys)
c.3834T>A (p.Asn1278Lys)
c.3681T>A (p.Asn1227Lys)
c.3645T>A (p.Asn1215Lys)
1g.236897073T>CCA423817921MTRc.3666T>C (p.Asn1222=)
n.4396T>C
c.3513T>C (p.Asn1171=)
c.*2708T>C (n.*2708T>C)
c.*2410T>C (n.*2410T>C)
c.3318T>C (p.Asn1106=)
n.6793T>C
c.3477T>C (p.Asn1159=)
n.6923T>C
c.3486T>C (p.Asn1162=)
c.3228T>C (p.Asn1076=)
n.3860T>C
c.2328T>C (p.Asn776=)
n.1278T>C
c.2445T>C (p.Asn815=)
c.3663T>C (p.Asn1221=)
c.2730T>C (p.Asn910=)
c.3834T>C (p.Asn1278=)
c.3681T>C (p.Asn1227=)
c.3645T>C (p.Asn1215=)
1g.236897073T>GCA345391677MTRc.3666T>G (p.Asn1222Lys)
n.4396T>G
c.3513T>G (p.Asn1171Lys)
c.*2708T>G (n.*2708T>G)
c.*2410T>G (n.*2410T>G)
c.3318T>G (p.Asn1106Lys)
n.6793T>G
c.3477T>G (p.Asn1159Lys)
n.6923T>G
c.3486T>G (p.Asn1162Lys)
c.3228T>G (p.Asn1076Lys)
n.3860T>G
c.2328T>G (p.Asn776Lys)
n.1278T>G
c.2445T>G (p.Asn815Lys)
c.3663T>G (p.Asn1221Lys)
c.2730T>G (p.Asn910Lys)
c.3834T>G (p.Asn1278Lys)
c.3681T>G (p.Asn1227Lys)
c.3645T>G (p.Asn1215Lys)
1g.236897074T>ACA345391681MTRc.3667T>A (p.Leu1223Met)
n.4397T>A
c.3514T>A (p.Leu1172Met)
c.*2709T>A (n.*2709T>A)
c.*2411T>A (n.*2411T>A)
c.3319T>A (p.Leu1107Met)
n.6794T>A
c.3478T>A (p.Leu1160Met)
n.6924T>A
c.3487T>A (p.Leu1163Met)
c.3229T>A (p.Leu1077Met)
n.3861T>A
c.2329T>A (p.Leu777Met)
n.1279T>A
c.2446T>A (p.Leu816Met)
c.3664T>A (p.Leu1222Met)
c.2731T>A (p.Leu911Met)
c.3835T>A (p.Leu1279Met)
c.3682T>A (p.Leu1228Met)
c.3646T>A (p.Leu1216Met)
 gnomAD v4
1g.236897074T>CCA423817922MTRc.3667T>C (p.Leu1223=)
n.4397T>C
c.3514T>C (p.Leu1172=)
c.*2709T>C (n.*2709T>C)
c.*2411T>C (n.*2411T>C)
c.3319T>C (p.Leu1107=)
n.6794T>C
c.3478T>C (p.Leu1160=)
n.6924T>C
c.3487T>C (p.Leu1163=)
c.3229T>C (p.Leu1077=)
n.3861T>C
c.2329T>C (p.Leu777=)
n.1279T>C
c.2446T>C (p.Leu816=)
c.3664T>C (p.Leu1222=)
c.2731T>C (p.Leu911=)
c.3835T>C (p.Leu1279=)
c.3682T>C (p.Leu1228=)
c.3646T>C (p.Leu1216=)
1g.236897074T>GCA345391684MTRc.3667T>G (p.Leu1223Val)
n.4397T>G
c.3514T>G (p.Leu1172Val)
c.*2709T>G (n.*2709T>G)
c.*2411T>G (n.*2411T>G)
c.3319T>G (p.Leu1107Val)
n.6794T>G
c.3478T>G (p.Leu1160Val)
n.6924T>G
c.3487T>G (p.Leu1163Val)
c.3229T>G (p.Leu1077Val)
n.3861T>G
c.2329T>G (p.Leu777Val)
n.1279T>G
c.2446T>G (p.Leu816Val)
c.3664T>G (p.Leu1222Val)
c.2731T>G (p.Leu911Val)
c.3835T>G (p.Leu1279Val)
c.3682T>G (p.Leu1228Val)
c.3646T>G (p.Leu1216Val)
1g.236897075T>ACA345391698MTRc.3668T>A (p.Leu1223Ter)
n.4398T>A
c.3515T>A (p.Leu1172Ter)
c.*2710T>A (n.*2710T>A)
c.*2412T>A (n.*2412T>A)
c.3320T>A (p.Leu1107Ter)
n.6795T>A
c.3479T>A (p.Leu1160Ter)
n.6925T>A
c.3488T>A (p.Leu1163Ter)
c.3230T>A (p.Leu1077Ter)
n.3862T>A
c.2330T>A (p.Leu777Ter)
n.1280T>A
c.2447T>A (p.Leu816Ter)
c.3665T>A (p.Leu1222Ter)
c.2732T>A (p.Leu911Ter)
c.3836T>A (p.Leu1279Ter)
c.3683T>A (p.Leu1228Ter)
c.3647T>A (p.Leu1216Ter)
1g.236897075T>CCA345391699MTRc.3668T>C (p.Leu1223Ser)
n.4398T>C
c.3515T>C (p.Leu1172Ser)
c.*2710T>C (n.*2710T>C)
c.*2412T>C (n.*2412T>C)
c.3320T>C (p.Leu1107Ser)
n.6795T>C
c.3479T>C (p.Leu1160Ser)
n.6925T>C
c.3488T>C (p.Leu1163Ser)
c.3230T>C (p.Leu1077Ser)
n.3862T>C
c.2330T>C (p.Leu777Ser)
n.1280T>C
c.2447T>C (p.Leu816Ser)
c.3665T>C (p.Leu1222Ser)
c.2732T>C (p.Leu911Ser)
c.3836T>C (p.Leu1279Ser)
c.3683T>C (p.Leu1228Ser)
c.3647T>C (p.Leu1216Ser)
1g.236897075T>GCA345391695MTRc.3668T>G (p.Leu1223Trp)
n.4398T>G
c.3515T>G (p.Leu1172Trp)
c.*2710T>G (n.*2710T>G)
c.*2412T>G (n.*2412T>G)
c.3320T>G (p.Leu1107Trp)
n.6795T>G
c.3479T>G (p.Leu1160Trp)
n.6925T>G
c.3488T>G (p.Leu1163Trp)
c.3230T>G (p.Leu1077Trp)
n.3862T>G
c.2330T>G (p.Leu777Trp)
n.1280T>G
c.2447T>G (p.Leu816Trp)
c.3665T>G (p.Leu1222Trp)
c.2732T>G (p.Leu911Trp)
c.3836T>G (p.Leu1279Trp)
c.3683T>G (p.Leu1228Trp)
c.3647T>G (p.Leu1216Trp)
1g.236897076G>ACA423817923MTRc.3669G>A (p.Leu1223=)
n.4399G>A
c.3516G>A (p.Leu1172=)
c.*2711G>A (n.*2711G>A)
c.*2413G>A (n.*2413G>A)
c.3321G>A (p.Leu1107=)
n.6796G>A
c.3480G>A (p.Leu1160=)
n.6926G>A
c.3489G>A (p.Leu1163=)
c.3231G>A (p.Leu1077=)
n.3863G>A
c.2331G>A (p.Leu777=)
n.1281G>A
c.2448G>A (p.Leu816=)
c.3666G>A (p.Leu1222=)
c.2733G>A (p.Leu911=)
c.3837G>A (p.Leu1279=)
c.3684G>A (p.Leu1228=)
c.3648G>A (p.Leu1216=)
 dbSNP
1g.236897076G>CCA345391708MTRc.3669G>C (p.Leu1223Phe)
n.4399G>C
c.3516G>C (p.Leu1172Phe)
c.*2711G>C (n.*2711G>C)
c.*2413G>C (n.*2413G>C)
c.3321G>C (p.Leu1107Phe)
n.6796G>C
c.3480G>C (p.Leu1160Phe)
n.6926G>C
c.3489G>C (p.Leu1163Phe)
c.3231G>C (p.Leu1077Phe)
n.3863G>C
c.2331G>C (p.Leu777Phe)
n.1281G>C
c.2448G>C (p.Leu816Phe)
c.3666G>C (p.Leu1222Phe)
c.2733G>C (p.Leu911Phe)
c.3837G>C (p.Leu1279Phe)
c.3684G>C (p.Leu1228Phe)
c.3648G>C (p.Leu1216Phe)
1g.236897076G=CA2487108661MTRc.3669G= (p.Leu1223=)
n.4399G=
c.3516G= (p.Leu1172=)
c.*2711G= (n.*2711G=)
c.*2413G= (n.*2413G=)
c.3321G= (p.Leu1107=)
n.6796G=
c.3480G= (p.Leu1160=)
n.6926G=
c.3489G= (p.Leu1163=)
c.3231G= (p.Leu1077=)
n.3863G=
c.2331G= (p.Leu777=)
n.1281G=
c.2448G= (p.Leu816=)
c.3666G= (p.Leu1222=)
c.2733G= (p.Leu911=)
c.3837G= (p.Leu1279=)
c.3684G= (p.Leu1228=)
c.3648G= (p.Leu1216=)
1g.236897076G>TCA345391718MTRc.3669G>T (p.Leu1223Phe)
n.4399G>T
c.3516G>T (p.Leu1172Phe)
c.*2711G>T (n.*2711G>T)
c.*2413G>T (n.*2413G>T)
c.3321G>T (p.Leu1107Phe)
n.6796G>T
c.3480G>T (p.Leu1160Phe)
n.6926G>T
c.3489G>T (p.Leu1163Phe)
c.3231G>T (p.Leu1077Phe)
n.3863G>T
c.2331G>T (p.Leu777Phe)
n.1281G>T
c.2448G>T (p.Leu816Phe)
c.3666G>T (p.Leu1222Phe)
c.2733G>T (p.Leu911Phe)
c.3837G>T (p.Leu1279Phe)
c.3684G>T (p.Leu1228Phe)
c.3648G>T (p.Leu1216Phe)
1g.236897077A>CCA345391723MTRc.3670A>C (p.Lys1224Gln)
n.4400A>C
c.3517A>C (p.Lys1173Gln)
c.*2712A>C (n.*2712A>C)
c.*2414A>C (n.*2414A>C)
c.3322A>C (p.Lys1108Gln)
n.6797A>C
c.3481A>C (p.Lys1161Gln)
n.6927A>C
c.3490A>C (p.Lys1164Gln)
c.3232A>C (p.Lys1078Gln)
n.3864A>C
c.2332A>C (p.Lys778Gln)
n.1282A>C
c.2449A>C (p.Lys817Gln)
c.3667A>C (p.Lys1223Gln)
c.2734A>C (p.Lys912Gln)
c.3838A>C (p.Lys1280Gln)
c.3685A>C (p.Lys1229Gln)
c.3649A>C (p.Lys1217Gln)
1g.236897077A>GCA345391727MTRc.3670A>G (p.Lys1224Glu)
n.4400A>G
c.3517A>G (p.Lys1173Glu)
c.*2712A>G (n.*2712A>G)
c.*2414A>G (n.*2414A>G)
c.3322A>G (p.Lys1108Glu)
n.6797A>G
c.3481A>G (p.Lys1161Glu)
n.6927A>G
c.3490A>G (p.Lys1164Glu)
c.3232A>G (p.Lys1078Glu)
n.3864A>G
c.2332A>G (p.Lys778Glu)
n.1282A>G
c.2449A>G (p.Lys817Glu)
c.3667A>G (p.Lys1223Glu)
c.2734A>G (p.Lys912Glu)
c.3838A>G (p.Lys1280Glu)
c.3685A>G (p.Lys1229Glu)
c.3649A>G (p.Lys1217Glu)
1g.236897077A>TCA345391729MTRc.3670A>T (p.Lys1224Ter)
n.4400A>T
c.3517A>T (p.Lys1173Ter)
c.*2712A>T (n.*2712A>T)
c.*2414A>T (n.*2414A>T)
c.3322A>T (p.Lys1108Ter)
n.6797A>T
c.3481A>T (p.Lys1161Ter)
n.6927A>T
c.3490A>T (p.Lys1164Ter)
c.3232A>T (p.Lys1078Ter)
n.3864A>T
c.2332A>T (p.Lys778Ter)
n.1282A>T
c.2449A>T (p.Lys817Ter)
c.3667A>T (p.Lys1223Ter)
c.2734A>T (p.Lys912Ter)
c.3838A>T (p.Lys1280Ter)
c.3685A>T (p.Lys1229Ter)
c.3649A>T (p.Lys1217Ter)
1g.236897078A=CA2487108662MTRc.3671A= (p.Lys1224=)
n.4401A=
c.3518A= (p.Lys1173=)
c.*2713A= (n.*2713A=)
c.*2415A= (n.*2415A=)
c.3323A= (p.Lys1108=)
n.6798A=
c.3482A= (p.Lys1161=)
n.6928A=
c.3491A= (p.Lys1164=)
c.3233A= (p.Lys1078=)
n.3865A=
c.2333A= (p.Lys778=)
n.1283A=
c.2450A= (p.Lys817=)
c.3668A= (p.Lys1223=)
c.2735A= (p.Lys912=)
c.3839A= (p.Lys1280=)
c.3686A= (p.Lys1229=)
c.3650A= (p.Lys1217=)
1g.236897078A>CCA345391744MTRc.3671A>C (p.Lys1224Thr)
n.4401A>C
c.3518A>C (p.Lys1173Thr)
c.*2713A>C (n.*2713A>C)
c.*2415A>C (n.*2415A>C)
c.3323A>C (p.Lys1108Thr)
n.6798A>C
c.3482A>C (p.Lys1161Thr)
n.6928A>C
c.3491A>C (p.Lys1164Thr)
c.3233A>C (p.Lys1078Thr)
n.3865A>C
c.2333A>C (p.Lys778Thr)
n.1283A>C
c.2450A>C (p.Lys817Thr)
c.3668A>C (p.Lys1223Thr)
c.2735A>C (p.Lys912Thr)
c.3839A>C (p.Lys1280Thr)
c.3686A>C (p.Lys1229Thr)
c.3650A>C (p.Lys1217Thr)
1g.236897078A>GCA345391733MTRc.3671A>G (p.Lys1224Arg)
n.4401A>G
c.3518A>G (p.Lys1173Arg)
c.*2713A>G (n.*2713A>G)
c.*2415A>G (n.*2415A>G)
c.3323A>G (p.Lys1108Arg)
n.6798A>G
c.3482A>G (p.Lys1161Arg)
n.6928A>G
c.3491A>G (p.Lys1164Arg)
c.3233A>G (p.Lys1078Arg)
n.3865A>G
c.2333A>G (p.Lys778Arg)
n.1283A>G
c.2450A>G (p.Lys817Arg)
c.3668A>G (p.Lys1223Arg)
c.2735A>G (p.Lys912Arg)
c.3839A>G (p.Lys1280Arg)
c.3686A>G (p.Lys1229Arg)
c.3650A>G (p.Lys1217Arg)
1g.236897078A>TCA345391742MTRc.3671A>T (p.Lys1224Met)
n.4401A>T
c.3518A>T (p.Lys1173Met)
c.*2713A>T (n.*2713A>T)
c.*2415A>T (n.*2415A>T)
c.3323A>T (p.Lys1108Met)
n.6798A>T
c.3482A>T (p.Lys1161Met)
n.6928A>T
c.3491A>T (p.Lys1164Met)
c.3233A>T (p.Lys1078Met)
n.3865A>T
c.2333A>T (p.Lys778Met)
n.1283A>T
c.2450A>T (p.Lys817Met)
c.3668A>T (p.Lys1223Met)
c.2735A>T (p.Lys912Met)
c.3839A>T (p.Lys1280Met)
c.3686A>T (p.Lys1229Met)
c.3650A>T (p.Lys1217Met)
 dbSNP
1g.236897079G>ACA423817924MTRc.3672G>A (p.Lys1224=)
n.4402G>A
c.3519G>A (p.Lys1173=)
c.*2714G>A (n.*2714G>A)
c.*2416G>A (n.*2416G>A)
c.3324G>A (p.Lys1108=)
n.6799G>A
c.3483G>A (p.Lys1161=)
n.6929G>A
c.3492G>A (p.Lys1164=)
c.3234G>A (p.Lys1078=)
n.3866G>A
c.2334G>A (p.Lys778=)
n.1284G>A
c.2451G>A (p.Lys817=)
c.3669G>A (p.Lys1223=)
c.2736G>A (p.Lys912=)
c.3840G>A (p.Lys1280=)
c.3687G>A (p.Lys1229=)
c.3651G>A (p.Lys1217=)
1g.236897079G>CCA345391755MTRc.3672G>C (p.Lys1224Asn)
n.4402G>C
c.3519G>C (p.Lys1173Asn)
c.*2714G>C (n.*2714G>C)
c.*2416G>C (n.*2416G>C)
c.3324G>C (p.Lys1108Asn)
n.6799G>C
c.3483G>C (p.Lys1161Asn)
n.6929G>C
c.3492G>C (p.Lys1164Asn)
c.3234G>C (p.Lys1078Asn)
n.3866G>C
c.2334G>C (p.Lys778Asn)
n.1284G>C
c.2451G>C (p.Lys817Asn)
c.3669G>C (p.Lys1223Asn)
c.2736G>C (p.Lys912Asn)
c.3840G>C (p.Lys1280Asn)
c.3687G>C (p.Lys1229Asn)
c.3651G>C (p.Lys1217Asn)
1g.236897079G>TCA345391758MTRc.3672G>T (p.Lys1224Asn)
n.4402G>T
c.3519G>T (p.Lys1173Asn)
c.*2714G>T (n.*2714G>T)
c.*2416G>T (n.*2416G>T)
c.3324G>T (p.Lys1108Asn)
n.6799G>T
c.3483G>T (p.Lys1161Asn)
n.6929G>T
c.3492G>T (p.Lys1164Asn)
c.3234G>T (p.Lys1078Asn)
n.3866G>T
c.2334G>T (p.Lys778Asn)
n.1284G>T
c.2451G>T (p.Lys817Asn)
c.3669G>T (p.Lys1223Asn)
c.2736G>T (p.Lys912Asn)
c.3840G>T (p.Lys1280Asn)
c.3687G>T (p.Lys1229Asn)
c.3651G>T (p.Lys1217Asn)
1g.236897080T>ACA345391759MTRc.3673T>A (p.Ser1225Thr)
n.4403T>A
c.3520T>A (p.Ser1174Thr)
c.*2715T>A (n.*2715T>A)
c.*2417T>A (n.*2417T>A)
c.3325T>A (p.Ser1109Thr)
n.6800T>A
c.3484T>A (p.Ser1162Thr)
n.6930T>A
c.3493T>A (p.Ser1165Thr)
c.3235T>A (p.Ser1079Thr)
n.3867T>A
c.2335T>A (p.Ser779Thr)
n.1285T>A
c.2452T>A (p.Ser818Thr)
c.3670T>A (p.Ser1224Thr)
c.2737T>A (p.Ser913Thr)
c.3841T>A (p.Ser1281Thr)
c.3688T>A (p.Ser1230Thr)
c.3652T>A (p.Ser1218Thr)
1g.236897080T>CCA345391762MTRc.3673T>C (p.Ser1225Pro)
n.4403T>C
c.3520T>C (p.Ser1174Pro)
c.*2715T>C (n.*2715T>C)
c.*2417T>C (n.*2417T>C)
c.3325T>C (p.Ser1109Pro)
n.6800T>C
c.3484T>C (p.Ser1162Pro)
n.6930T>C
c.3493T>C (p.Ser1165Pro)
c.3235T>C (p.Ser1079Pro)
n.3867T>C
c.2335T>C (p.Ser779Pro)
n.1285T>C
c.2452T>C (p.Ser818Pro)
c.3670T>C (p.Ser1224Pro)
c.2737T>C (p.Ser913Pro)
c.3841T>C (p.Ser1281Pro)
c.3688T>C (p.Ser1230Pro)
c.3652T>C (p.Ser1218Pro)
1g.236897080T>GCA345391778MTRc.3673T>G (p.Ser1225Ala)
n.4403T>G
c.3520T>G (p.Ser1174Ala)
c.*2715T>G (n.*2715T>G)
c.*2417T>G (n.*2417T>G)
c.3325T>G (p.Ser1109Ala)
n.6800T>G
c.3484T>G (p.Ser1162Ala)
n.6930T>G
c.3493T>G (p.Ser1165Ala)
c.3235T>G (p.Ser1079Ala)
n.3867T>G
c.2335T>G (p.Ser779Ala)
n.1285T>G
c.2452T>G (p.Ser818Ala)
c.3670T>G (p.Ser1224Ala)
c.2737T>G (p.Ser913Ala)
c.3841T>G (p.Ser1281Ala)
c.3688T>G (p.Ser1230Ala)
c.3652T>G (p.Ser1218Ala)
1g.236897081C>ACA345391782MTRc.3674C>A (p.Ser1225Tyr)
n.4404C>A
c.3521C>A (p.Ser1174Tyr)
c.*2716C>A (n.*2716C>A)
c.*2418C>A (n.*2418C>A)
c.3326C>A (p.Ser1109Tyr)
n.6801C>A
c.3485C>A (p.Ser1162Tyr)
n.6931C>A
c.3494C>A (p.Ser1165Tyr)
c.3236C>A (p.Ser1079Tyr)
n.3868C>A
c.2336C>A (p.Ser779Tyr)
n.1286C>A
c.2453C>A (p.Ser818Tyr)
c.3671C>A (p.Ser1224Tyr)
c.2738C>A (p.Ser913Tyr)
c.3842C>A (p.Ser1281Tyr)
c.3689C>A (p.Ser1230Tyr)
c.3653C>A (p.Ser1218Tyr)
1g.236897081C=CA2487108663MTRc.3674C= (p.Ser1225=)
n.4404C=
c.3521C= (p.Ser1174=)
c.*2716C= (n.*2716C=)
c.*2418C= (n.*2418C=)
c.3326C= (p.Ser1109=)
n.6801C=
c.3485C= (p.Ser1162=)
n.6931C=
c.3494C= (p.Ser1165=)
c.3236C= (p.Ser1079=)
n.3868C=
c.2336C= (p.Ser779=)
n.1286C=
c.2453C= (p.Ser818=)
c.3671C= (p.Ser1224=)
c.2738C= (p.Ser913=)
c.3842C= (p.Ser1281=)
c.3689C= (p.Ser1230=)
c.3653C= (p.Ser1218=)
1g.236897081C>GCA345391793MTRc.3674C>G (p.Ser1225Cys)
n.4404C>G
c.3521C>G (p.Ser1174Cys)
c.*2716C>G (n.*2716C>G)
c.*2418C>G (n.*2418C>G)
c.3326C>G (p.Ser1109Cys)
n.6801C>G
c.3485C>G (p.Ser1162Cys)
n.6931C>G
c.3494C>G (p.Ser1165Cys)
c.3236C>G (p.Ser1079Cys)
n.3868C>G
c.2336C>G (p.Ser779Cys)
n.1286C>G
c.2453C>G (p.Ser818Cys)
c.3671C>G (p.Ser1224Cys)
c.2738C>G (p.Ser913Cys)
c.3842C>G (p.Ser1281Cys)
c.3689C>G (p.Ser1230Cys)
c.3653C>G (p.Ser1218Cys)
 dbSNP gnomAD v2 gnomAD v4
1g.236897081C>TCA345391790MTRc.3674C>T (p.Ser1225Phe)
n.4404C>T
c.3521C>T (p.Ser1174Phe)
c.*2716C>T (n.*2716C>T)
c.*2418C>T (n.*2418C>T)
c.3326C>T (p.Ser1109Phe)
n.6801C>T
c.3485C>T (p.Ser1162Phe)
n.6931C>T
c.3494C>T (p.Ser1165Phe)
c.3236C>T (p.Ser1079Phe)
n.3868C>T
c.2336C>T (p.Ser779Phe)
n.1286C>T
c.2453C>T (p.Ser818Phe)
c.3671C>T (p.Ser1224Phe)
c.2738C>T (p.Ser913Phe)
c.3842C>T (p.Ser1281Phe)
c.3689C>T (p.Ser1230Phe)
c.3653C>T (p.Ser1218Phe)
 gnomAD v4
1g.236897082C>ACA423817927MTRc.3675C>A (p.Ser1225=)
n.4405C>A
c.3522C>A (p.Ser1174=)
c.*2717C>A (n.*2717C>A)
c.*2419C>A (n.*2419C>A)
c.3327C>A (p.Ser1109=)
n.6802C>A
c.3486C>A (p.Ser1162=)
n.6932C>A
c.3495C>A (p.Ser1165=)
c.3237C>A (p.Ser1079=)
n.3869C>A
c.2337C>A (p.Ser779=)
n.1287C>A
c.2454C>A (p.Ser818=)
c.3672C>A (p.Ser1224=)
c.2739C>A (p.Ser913=)
c.3843C>A (p.Ser1281=)
c.3690C>A (p.Ser1230=)
c.3654C>A (p.Ser1218=)
1g.236897082C=CA2487108664MTRc.3675C= (p.Ser1225=)
n.4405C=
c.3522C= (p.Ser1174=)
c.*2717C= (n.*2717C=)
c.*2419C= (n.*2419C=)
c.3327C= (p.Ser1109=)
n.6802C=
c.3486C= (p.Ser1162=)
n.6932C=
c.3495C= (p.Ser1165=)
c.3237C= (p.Ser1079=)
n.3869C=
c.2337C= (p.Ser779=)
n.1287C=
c.2454C= (p.Ser818=)
c.3672C= (p.Ser1224=)
c.2739C= (p.Ser913=)
c.3843C= (p.Ser1281=)
c.3690C= (p.Ser1230=)
c.3654C= (p.Ser1218=)
1g.236897082C>GCA423817925MTRc.3675C>G (p.Ser1225=)
n.4405C>G
c.3522C>G (p.Ser1174=)
c.*2717C>G (n.*2717C>G)
c.*2419C>G (n.*2419C>G)
c.3327C>G (p.Ser1109=)
n.6802C>G
c.3486C>G (p.Ser1162=)
n.6932C>G
c.3495C>G (p.Ser1165=)
c.3237C>G (p.Ser1079=)
n.3869C>G
c.2337C>G (p.Ser779=)
n.1287C>G
c.2454C>G (p.Ser818=)
c.3672C>G (p.Ser1224=)
c.2739C>G (p.Ser913=)
c.3843C>G (p.Ser1281=)
c.3690C>G (p.Ser1230=)
c.3654C>G (p.Ser1218=)
1g.236897082C>TCA423817926MTRc.3675C>T (p.Ser1225=)
n.4405C>T
c.3522C>T (p.Ser1174=)
c.*2717C>T (n.*2717C>T)
c.*2419C>T (n.*2419C>T)
c.3327C>T (p.Ser1109=)
n.6802C>T
c.3486C>T (p.Ser1162=)
n.6932C>T
c.3495C>T (p.Ser1165=)
c.3237C>T (p.Ser1079=)
n.3869C>T
c.2337C>T (p.Ser779=)
n.1287C>T
c.2454C>T (p.Ser818=)
c.3672C>T (p.Ser1224=)
c.2739C>T (p.Ser913=)
c.3843C>T (p.Ser1281=)
c.3690C>T (p.Ser1230=)
c.3654C>T (p.Ser1218=)
 dbSNP gnomAD v4
1g.236897083A>CCA345391796MTRc.3676A>C (p.Lys1226Gln)
n.4406A>C
c.3523A>C (p.Lys1175Gln)
c.*2718A>C (n.*2718A>C)
c.*2420A>C (n.*2420A>C)
c.3328A>C (p.Lys1110Gln)
n.6803A>C
c.3487A>C (p.Lys1163Gln)
n.6933A>C
c.3496A>C (p.Lys1166Gln)
c.3238A>C (p.Lys1080Gln)
n.3870A>C
c.2338A>C (p.Lys780Gln)
n.1288A>C
c.2455A>C (p.Lys819Gln)
c.3673A>C (p.Lys1225Gln)
c.2740A>C (p.Lys914Gln)
c.3844A>C (p.Lys1282Gln)
c.3691A>C (p.Lys1231Gln)
c.3655A>C (p.Lys1219Gln)
1g.236897083A>GCA345391800MTRc.3676A>G (p.Lys1226Glu)
n.4406A>G
c.3523A>G (p.Lys1175Glu)
c.*2718A>G (n.*2718A>G)
c.*2420A>G (n.*2420A>G)
c.3328A>G (p.Lys1110Glu)
n.6803A>G
c.3487A>G (p.Lys1163Glu)
n.6933A>G
c.3496A>G (p.Lys1166Glu)
c.3238A>G (p.Lys1080Glu)
n.3870A>G
c.2338A>G (p.Lys780Glu)
n.1288A>G
c.2455A>G (p.Lys819Glu)
c.3673A>G (p.Lys1225Glu)
c.2740A>G (p.Lys914Glu)
c.3844A>G (p.Lys1282Glu)
c.3691A>G (p.Lys1231Glu)
c.3655A>G (p.Lys1219Glu)
1g.236897083A>TCA345391803MTRc.3676A>T (p.Lys1226Ter)
n.4406A>T
c.3523A>T (p.Lys1175Ter)
c.*2718A>T (n.*2718A>T)
c.*2420A>T (n.*2420A>T)
c.3328A>T (p.Lys1110Ter)
n.6803A>T
c.3487A>T (p.Lys1163Ter)
n.6933A>T
c.3496A>T (p.Lys1166Ter)
c.3238A>T (p.Lys1080Ter)
n.3870A>T
c.2338A>T (p.Lys780Ter)
n.1288A>T
c.2455A>T (p.Lys819Ter)
c.3673A>T (p.Lys1225Ter)
c.2740A>T (p.Lys914Ter)
c.3844A>T (p.Lys1282Ter)
c.3691A>T (p.Lys1231Ter)
c.3655A>T (p.Lys1219Ter)
1g.236897084A=CA2487108665MTRc.3677A= (p.Lys1226=)
n.4407A=
c.3524A= (p.Lys1175=)
c.*2719A= (n.*2719A=)
c.*2421A= (n.*2421A=)
c.3329A= (p.Lys1110=)
n.6804A=
c.3488A= (p.Lys1163=)
n.6934A=
c.3497A= (p.Lys1166=)
c.3239A= (p.Lys1080=)
n.3871A=
c.2339A= (p.Lys780=)
n.1289A=
c.2456A= (p.Lys819=)
c.3674A= (p.Lys1225=)
c.2741A= (p.Lys914=)
c.3845A= (p.Lys1282=)
c.3692A= (p.Lys1231=)
c.3656A= (p.Lys1219=)
1g.236897084A>CCA345391816MTRc.3677A>C (p.Lys1226Thr)
n.4407A>C
c.3524A>C (p.Lys1175Thr)
c.*2719A>C (n.*2719A>C)
c.*2421A>C (n.*2421A>C)
c.3329A>C (p.Lys1110Thr)
n.6804A>C
c.3488A>C (p.Lys1163Thr)
n.6934A>C
c.3497A>C (p.Lys1166Thr)
c.3239A>C (p.Lys1080Thr)
n.3871A>C
c.2339A>C (p.Lys780Thr)
n.1289A>C
c.2456A>C (p.Lys819Thr)
c.3674A>C (p.Lys1225Thr)
c.2741A>C (p.Lys914Thr)
c.3845A>C (p.Lys1282Thr)
c.3692A>C (p.Lys1231Thr)
c.3656A>C (p.Lys1219Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.236897084A>GCA1474764MTRc.3677A>G (p.Lys1226Arg)
n.4407A>G
c.3524A>G (p.Lys1175Arg)
c.*2719A>G (n.*2719A>G)
c.*2421A>G (n.*2421A>G)
c.3329A>G (p.Lys1110Arg)
n.6804A>G
c.3488A>G (p.Lys1163Arg)
n.6934A>G
c.3497A>G (p.Lys1166Arg)
c.3239A>G (p.Lys1080Arg)
n.3871A>G
c.2339A>G (p.Lys780Arg)
n.1289A>G
c.2456A>G (p.Lys819Arg)
c.3674A>G (p.Lys1225Arg)
c.2741A>G (p.Lys914Arg)
c.3845A>G (p.Lys1282Arg)
c.3692A>G (p.Lys1231Arg)
c.3656A>G (p.Lys1219Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.236897084A>TCA345391821MTRc.3677A>T (p.Lys1226Ile)
n.4407A>T
c.3524A>T (p.Lys1175Ile)
c.*2719A>T (n.*2719A>T)
c.*2421A>T (n.*2421A>T)
c.3329A>T (p.Lys1110Ile)
n.6804A>T
c.3488A>T (p.Lys1163Ile)
n.6934A>T
c.3497A>T (p.Lys1166Ile)
c.3239A>T (p.Lys1080Ile)
n.3871A>T
c.2339A>T (p.Lys780Ile)
n.1289A>T
c.2456A>T (p.Lys819Ile)
c.3674A>T (p.Lys1225Ile)
c.2741A>T (p.Lys914Ile)
c.3845A>T (p.Lys1282Ile)
c.3692A>T (p.Lys1231Ile)
c.3656A>T (p.Lys1219Ile)
 dbSNP
1g.236897085A>CCA345391831MTRc.3678A>C (p.Lys1226Asn)
n.4408A>C
c.3525A>C (p.Lys1175Asn)
c.*2720A>C (n.*2720A>C)
c.*2422A>C (n.*2422A>C)
c.3330A>C (p.Lys1110Asn)
n.6805A>C
c.3489A>C (p.Lys1163Asn)
n.6935A>C
c.3498A>C (p.Lys1166Asn)
c.3240A>C (p.Lys1080Asn)
n.3872A>C
c.2340A>C (p.Lys780Asn)
n.1290A>C
c.2457A>C (p.Lys819Asn)
c.3675A>C (p.Lys1225Asn)
c.2742A>C (p.Lys914Asn)
c.3846A>C (p.Lys1282Asn)
c.3693A>C (p.Lys1231Asn)
c.3657A>C (p.Lys1219Asn)
1g.236897085A>GCA423817928MTRc.3678A>G (p.Lys1226=)
n.4408A>G
c.3525A>G (p.Lys1175=)
c.*2720A>G (n.*2720A>G)
c.*2422A>G (n.*2422A>G)
c.3330A>G (p.Lys1110=)
n.6805A>G
c.3489A>G (p.Lys1163=)
n.6935A>G
c.3498A>G (p.Lys1166=)
c.3240A>G (p.Lys1080=)
n.3872A>G
c.2340A>G (p.Lys780=)
n.1290A>G
c.2457A>G (p.Lys819=)
c.3675A>G (p.Lys1225=)
c.2742A>G (p.Lys914=)
c.3846A>G (p.Lys1282=)
c.3693A>G (p.Lys1231=)
c.3657A>G (p.Lys1219=)
 ClinVar dbSNP
1g.236897085A>TCA345391832MTRc.3678A>T (p.Lys1226Asn)
n.4408A>T
c.3525A>T (p.Lys1175Asn)
c.*2720A>T (n.*2720A>T)
c.*2422A>T (n.*2422A>T)
c.3330A>T (p.Lys1110Asn)
n.6805A>T
c.3489A>T (p.Lys1163Asn)
n.6935A>T
c.3498A>T (p.Lys1166Asn)
c.3240A>T (p.Lys1080Asn)
n.3872A>T
c.2340A>T (p.Lys780Asn)
n.1290A>T
c.2457A>T (p.Lys819Asn)
c.3675A>T (p.Lys1225Asn)
c.2742A>T (p.Lys914Asn)
c.3846A>T (p.Lys1282Asn)
c.3693A>T (p.Lys1231Asn)
c.3657A>T (p.Lys1219Asn)
1g.236897086T>ACA345391833MTRc.3679T>A (p.Tyr1227Asn)
n.4409T>A
c.3526T>A (p.Tyr1176Asn)
c.*2721T>A (n.*2721T>A)
c.*2423T>A (n.*2423T>A)
c.3331T>A (p.Tyr1111Asn)
n.6806T>A
c.3490T>A (p.Tyr1164Asn)
n.6936T>A
c.3499T>A (p.Tyr1167Asn)
c.3241T>A (p.Tyr1081Asn)
n.3873T>A
c.2341T>A (p.Tyr781Asn)
n.1291T>A
c.2458T>A (p.Tyr820Asn)
c.3676T>A (p.Tyr1226Asn)
c.2743T>A (p.Tyr915Asn)
c.3847T>A (p.Tyr1283Asn)
c.3694T>A (p.Tyr1232Asn)
c.3658T>A (p.Tyr1220Asn)
1g.236897086T>CCA345391838MTRc.3679T>C (p.Tyr1227His)
n.4409T>C
c.3526T>C (p.Tyr1176His)
c.*2721T>C (n.*2721T>C)
c.*2423T>C (n.*2423T>C)
c.3331T>C (p.Tyr1111His)
n.6806T>C
c.3490T>C (p.Tyr1164His)
n.6936T>C
c.3499T>C (p.Tyr1167His)
c.3241T>C (p.Tyr1081His)
n.3873T>C
c.2341T>C (p.Tyr781His)
n.1291T>C
c.2458T>C (p.Tyr820His)
c.3676T>C (p.Tyr1226His)
c.2743T>C (p.Tyr915His)
c.3847T>C (p.Tyr1283His)
c.3694T>C (p.Tyr1232His)
c.3658T>C (p.Tyr1220His)
1g.236897086T>GCA345391840MTRc.3679T>G (p.Tyr1227Asp)
n.4409T>G
c.3526T>G (p.Tyr1176Asp)
c.*2721T>G (n.*2721T>G)
c.*2423T>G (n.*2423T>G)
c.3331T>G (p.Tyr1111Asp)
n.6806T>G
c.3490T>G (p.Tyr1164Asp)
n.6936T>G
c.3499T>G (p.Tyr1167Asp)
c.3241T>G (p.Tyr1081Asp)
n.3873T>G
c.2341T>G (p.Tyr781Asp)
n.1291T>G
c.2458T>G (p.Tyr820Asp)
c.3676T>G (p.Tyr1226Asp)
c.2743T>G (p.Tyr915Asp)
c.3847T>G (p.Tyr1283Asp)
c.3694T>G (p.Tyr1232Asp)
c.3658T>G (p.Tyr1220Asp)
1g.236897087A=CA1149066991MTRc.3680A= (p.Tyr1227=)
n.4410A=
c.3527A= (p.Tyr1176=)
c.*2722A= (n.*2722A=)
c.*2424A= (n.*2424A=)
c.3332A= (p.Tyr1111=)
n.6807A=
c.3491A= (p.Tyr1164=)
n.6937A=
c.3500A= (p.Tyr1167=)
c.3242A= (p.Tyr1081=)
n.3874A=
c.2342A= (p.Tyr781=)
n.1292A=
c.2459A= (p.Tyr820=)
c.3677A= (p.Tyr1226=)
c.2744A= (p.Tyr915=)
c.3848A= (p.Tyr1283=)
c.3695A= (p.Tyr1232=)
c.3659A= (p.Tyr1220=)
1g.236897087A>CCA345391843MTRc.3680A>C (p.Tyr1227Ser)
n.4410A>C
c.3527A>C (p.Tyr1176Ser)
c.*2722A>C (n.*2722A>C)
c.*2424A>C (n.*2424A>C)
c.3332A>C (p.Tyr1111Ser)
n.6807A>C
c.3491A>C (p.Tyr1164Ser)
n.6937A>C
c.3500A>C (p.Tyr1167Ser)
c.3242A>C (p.Tyr1081Ser)
n.3874A>C
c.2342A>C (p.Tyr781Ser)
n.1292A>C
c.2459A>C (p.Tyr820Ser)
c.3677A>C (p.Tyr1226Ser)
c.2744A>C (p.Tyr915Ser)
c.3848A>C (p.Tyr1283Ser)
c.3695A>C (p.Tyr1232Ser)
c.3659A>C (p.Tyr1220Ser)
1g.236897087A>GCA345391846MTRc.3680A>G (p.Tyr1227Cys)
n.4410A>G
c.3527A>G (p.Tyr1176Cys)
c.*2722A>G (n.*2722A>G)
c.*2424A>G (n.*2424A>G)
c.3332A>G (p.Tyr1111Cys)
n.6807A>G
c.3491A>G (p.Tyr1164Cys)
n.6937A>G
c.3500A>G (p.Tyr1167Cys)
c.3242A>G (p.Tyr1081Cys)
n.3874A>G
c.2342A>G (p.Tyr781Cys)
n.1292A>G
c.2459A>G (p.Tyr820Cys)
c.3677A>G (p.Tyr1226Cys)
c.2744A>G (p.Tyr915Cys)
c.3848A>G (p.Tyr1283Cys)
c.3695A>G (p.Tyr1232Cys)
c.3659A>G (p.Tyr1220Cys)
1g.236897087A>TCA1474765MTRc.3680A>T (p.Tyr1227Phe)
n.4410A>T
c.3527A>T (p.Tyr1176Phe)
c.*2722A>T (n.*2722A>T)
c.*2424A>T (n.*2424A>T)
c.3332A>T (p.Tyr1111Phe)
n.6807A>T
c.3491A>T (p.Tyr1164Phe)
n.6937A>T
c.3500A>T (p.Tyr1167Phe)
c.3242A>T (p.Tyr1081Phe)
n.3874A>T
c.2342A>T (p.Tyr781Phe)
n.1292A>T
c.2459A>T (p.Tyr820Phe)
c.3677A>T (p.Tyr1226Phe)
c.2744A>T (p.Tyr915Phe)
c.3848A>T (p.Tyr1283Phe)
c.3695A>T (p.Tyr1232Phe)
c.3659A>T (p.Tyr1220Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.236897088T>ACA345391852MTRc.3681T>A (p.Tyr1227Ter)
n.4411T>A
c.3528T>A (p.Tyr1176Ter)
c.*2723T>A (n.*2723T>A)
c.*2425T>A (n.*2425T>A)
c.3333T>A (p.Tyr1111Ter)
n.6808T>A
c.3492T>A (p.Tyr1164Ter)
n.6938T>A
c.3501T>A (p.Tyr1167Ter)
c.3243T>A (p.Tyr1081Ter)
n.3875T>A
c.2343T>A (p.Tyr781Ter)
n.1293T>A
c.2460T>A (p.Tyr820Ter)
c.3678T>A (p.Tyr1226Ter)
c.2745T>A (p.Tyr915Ter)
c.3849T>A (p.Tyr1283Ter)
c.3696T>A (p.Tyr1232Ter)
c.3660T>A (p.Tyr1220Ter)
1g.236897088T>CCA423817929MTRc.3681T>C (p.Tyr1227=)
n.4411T>C
c.3528T>C (p.Tyr1176=)
c.*2723T>C (n.*2723T>C)
c.*2425T>C (n.*2425T>C)
c.3333T>C (p.Tyr1111=)
n.6808T>C
c.3492T>C (p.Tyr1164=)
n.6938T>C
c.3501T>C (p.Tyr1167=)
c.3243T>C (p.Tyr1081=)
n.3875T>C
c.2343T>C (p.Tyr781=)
n.1293T>C
c.2460T>C (p.Tyr820=)
c.3678T>C (p.Tyr1226=)
c.2745T>C (p.Tyr915=)
c.3849T>C (p.Tyr1283=)
c.3696T>C (p.Tyr1232=)
c.3660T>C (p.Tyr1220=)
1g.236897088T>GCA345391850MTRc.3681T>G (p.Tyr1227Ter)
n.4411T>G
c.3528T>G (p.Tyr1176Ter)
c.*2723T>G (n.*2723T>G)
c.*2425T>G (n.*2425T>G)
c.3333T>G (p.Tyr1111Ter)
n.6808T>G
c.3492T>G (p.Tyr1164Ter)
n.6938T>G
c.3501T>G (p.Tyr1167Ter)
c.3243T>G (p.Tyr1081Ter)
n.3875T>G
c.2343T>G (p.Tyr781Ter)
n.1293T>G
c.2460T>G (p.Tyr820Ter)
c.3678T>G (p.Tyr1226Ter)
c.2745T>G (p.Tyr915Ter)
c.3849T>G (p.Tyr1283Ter)
c.3696T>G (p.Tyr1232Ter)
c.3660T>G (p.Tyr1220Ter)
1g.236897089T>ACA345391854MTRc.3682T>A (p.Phe1228Ile)
n.4412T>A
c.3529T>A (p.Phe1177Ile)
c.*2724T>A (n.*2724T>A)
c.*2426T>A (n.*2426T>A)
c.3334T>A (p.Phe1112Ile)
n.6809T>A
c.3493T>A (p.Phe1165Ile)
n.6939T>A
c.3502T>A (p.Phe1168Ile)
c.3244T>A (p.Phe1082Ile)
n.3876T>A
c.2344T>A (p.Phe782Ile)
n.1294T>A
c.2461T>A (p.Phe821Ile)
c.3679T>A (p.Phe1227Ile)
c.2746T>A (p.Phe916Ile)
c.3850T>A (p.Phe1284Ile)
c.3697T>A (p.Phe1233Ile)
c.3661T>A (p.Phe1221Ile)
1g.236897089T>CCA345391857MTRc.3682T>C (p.Phe1228Leu)
n.4412T>C
c.3529T>C (p.Phe1177Leu)
c.*2724T>C (n.*2724T>C)
c.*2426T>C (n.*2426T>C)
c.3334T>C (p.Phe1112Leu)
n.6809T>C
c.3493T>C (p.Phe1165Leu)
n.6939T>C
c.3502T>C (p.Phe1168Leu)
c.3244T>C (p.Phe1082Leu)
n.3876T>C
c.2344T>C (p.Phe782Leu)
n.1294T>C
c.2461T>C (p.Phe821Leu)
c.3679T>C (p.Phe1227Leu)
c.2746T>C (p.Phe916Leu)
c.3850T>C (p.Phe1284Leu)
c.3697T>C (p.Phe1233Leu)
c.3661T>C (p.Phe1221Leu)
1g.236897089T>GCA345391858MTRc.3682T>G (p.Phe1228Val)
n.4412T>G
c.3529T>G (p.Phe1177Val)
c.*2724T>G (n.*2724T>G)
c.*2426T>G (n.*2426T>G)
c.3334T>G (p.Phe1112Val)
n.6809T>G
c.3493T>G (p.Phe1165Val)
n.6939T>G
c.3502T>G (p.Phe1168Val)
c.3244T>G (p.Phe1082Val)
n.3876T>G
c.2344T>G (p.Phe782Val)
n.1294T>G
c.2461T>G (p.Phe821Val)
c.3679T>G (p.Phe1227Val)
c.2746T>G (p.Phe916Val)
c.3850T>G (p.Phe1284Val)
c.3697T>G (p.Phe1233Val)
c.3661T>G (p.Phe1221Val)
 gnomAD v4
1g.236897090T>ACA345391861MTRc.3683T>A (p.Phe1228Tyr)
n.4413T>A
c.3530T>A (p.Phe1177Tyr)
c.*2725T>A (n.*2725T>A)
c.*2427T>A (n.*2427T>A)
c.3335T>A (p.Phe1112Tyr)
n.6810T>A
c.3494T>A (p.Phe1165Tyr)
n.6940T>A
c.3503T>A (p.Phe1168Tyr)
c.3245T>A (p.Phe1082Tyr)
n.3877T>A
c.2345T>A (p.Phe782Tyr)
n.1295T>A
c.2462T>A (p.Phe821Tyr)
c.3680T>A (p.Phe1227Tyr)
c.2747T>A (p.Phe916Tyr)
c.3851T>A (p.Phe1284Tyr)
c.3698T>A (p.Phe1233Tyr)
c.3662T>A (p.Phe1221Tyr)
1g.236897090T>CCA345391864MTRc.3683T>C (p.Phe1228Ser)
n.4413T>C
c.3530T>C (p.Phe1177Ser)
c.*2725T>C (n.*2725T>C)
c.*2427T>C (n.*2427T>C)
c.3335T>C (p.Phe1112Ser)
n.6810T>C
c.3494T>C (p.Phe1165Ser)
n.6940T>C
c.3503T>C (p.Phe1168Ser)
c.3245T>C (p.Phe1082Ser)
n.3877T>C
c.2345T>C (p.Phe782Ser)
n.1295T>C
c.2462T>C (p.Phe821Ser)
c.3680T>C (p.Phe1227Ser)
c.2747T>C (p.Phe916Ser)
c.3851T>C (p.Phe1284Ser)
c.3698T>C (p.Phe1233Ser)
c.3662T>C (p.Phe1221Ser)
 dbSNP
1g.236897090T>GCA345391874MTRc.3683T>G (p.Phe1228Cys)
n.4413T>G
c.3530T>G (p.Phe1177Cys)
c.*2725T>G (n.*2725T>G)
c.*2427T>G (n.*2427T>G)
c.3335T>G (p.Phe1112Cys)
n.6810T>G
c.3494T>G (p.Phe1165Cys)
n.6940T>G
c.3503T>G (p.Phe1168Cys)
c.3245T>G (p.Phe1082Cys)
n.3877T>G
c.2345T>G (p.Phe782Cys)
n.1295T>G
c.2462T>G (p.Phe821Cys)
c.3680T>G (p.Phe1227Cys)
c.2747T>G (p.Phe916Cys)
c.3851T>G (p.Phe1284Cys)
c.3698T>G (p.Phe1233Cys)
c.3662T>G (p.Phe1221Cys)
1g.236897090T=CA2487108666MTRc.3683T= (p.Phe1228=)
n.4413T=
c.3530T= (p.Phe1177=)
c.*2725T= (n.*2725T=)
c.*2427T= (n.*2427T=)
c.3335T= (p.Phe1112=)
n.6810T=
c.3494T= (p.Phe1165=)
n.6940T=
c.3503T= (p.Phe1168=)
c.3245T= (p.Phe1082=)
n.3877T=
c.2345T= (p.Phe782=)
n.1295T=
c.2462T= (p.Phe821=)
c.3680T= (p.Phe1227=)
c.2747T= (p.Phe916=)
c.3851T= (p.Phe1284=)
c.3698T= (p.Phe1233=)
c.3662T= (p.Phe1221=)
1g.236897091T>ACA345391876MTRc.3684T>A (p.Phe1228Leu)
n.4414T>A
c.3531T>A (p.Phe1177Leu)
c.*2726T>A (n.*2726T>A)
c.*2428T>A (n.*2428T>A)
c.3336T>A (p.Phe1112Leu)
n.6811T>A
c.3495T>A (p.Phe1165Leu)
n.6941T>A
c.3504T>A (p.Phe1168Leu)
c.3246T>A (p.Phe1082Leu)
n.3878T>A
c.2346T>A (p.Phe782Leu)
n.1296T>A
c.2463T>A (p.Phe821Leu)
c.3681T>A (p.Phe1227Leu)
c.2748T>A (p.Phe916Leu)
c.3852T>A (p.Phe1284Leu)
c.3699T>A (p.Phe1233Leu)
c.3663T>A (p.Phe1221Leu)
1g.236897091T>CCA423817930MTRc.3684T>C (p.Phe1228=)
n.4414T>C
c.3531T>C (p.Phe1177=)
c.*2726T>C (n.*2726T>C)
c.*2428T>C (n.*2428T>C)
c.3336T>C (p.Phe1112=)
n.6811T>C
c.3495T>C (p.Phe1165=)
n.6941T>C
c.3504T>C (p.Phe1168=)
c.3246T>C (p.Phe1082=)
n.3878T>C
c.2346T>C (p.Phe782=)
n.1296T>C
c.2463T>C (p.Phe821=)
c.3681T>C (p.Phe1227=)
c.2748T>C (p.Phe916=)
c.3852T>C (p.Phe1284=)
c.3699T>C (p.Phe1233=)
c.3663T>C (p.Phe1221=)
 dbSNP gnomAD v2 gnomAD v4
1g.236897091T>GCA345391879MTRc.3684T>G (p.Phe1228Leu)
n.4414T>G
c.3531T>G (p.Phe1177Leu)
c.*2726T>G (n.*2726T>G)
c.*2428T>G (n.*2428T>G)
c.3336T>G (p.Phe1112Leu)
n.6811T>G
c.3495T>G (p.Phe1165Leu)
n.6941T>G
c.3504T>G (p.Phe1168Leu)
c.3246T>G (p.Phe1082Leu)
n.3878T>G
c.2346T>G (p.Phe782Leu)
n.1296T>G
c.2463T>G (p.Phe821Leu)
c.3681T>G (p.Phe1227Leu)
c.2748T>G (p.Phe916Leu)
c.3852T>G (p.Phe1284Leu)
c.3699T>G (p.Phe1233Leu)
c.3663T>G (p.Phe1221Leu)
1g.236897091T=CA2487108667MTRc.3684T= (p.Phe1228=)
n.4414T=
c.3531T= (p.Phe1177=)
c.*2726T= (n.*2726T=)
c.*2428T= (n.*2428T=)
c.3336T= (p.Phe1112=)
n.6811T=
c.3495T= (p.Phe1165=)
n.6941T=
c.3504T= (p.Phe1168=)
c.3246T= (p.Phe1082=)
n.3878T=
c.2346T= (p.Phe782=)
n.1296T=
c.2463T= (p.Phe821=)
c.3681T= (p.Phe1227=)
c.2748T= (p.Phe916=)
c.3852T= (p.Phe1284=)
c.3699T= (p.Phe1233=)
c.3663T= (p.Phe1221=)
1g.236897092G>ACA345391882MTRc.3685G>A (p.Ala1229Thr)
n.4415G>A
c.3532G>A (p.Ala1178Thr)
c.*2727G>A (n.*2727G>A)
c.*2429G>A (n.*2429G>A)
c.3337G>A (p.Ala1113Thr)
n.6812G>A
c.3496G>A (p.Ala1166Thr)
n.6942G>A
c.3505G>A (p.Ala1169Thr)
c.3247G>A (p.Ala1083Thr)
n.3879G>A
c.2347G>A (p.Ala783Thr)
n.1297G>A
c.2464G>A (p.Ala822Thr)
c.3682G>A (p.Ala1228Thr)
c.2749G>A (p.Ala917Thr)
c.3853G>A (p.Ala1285Thr)
c.3700G>A (p.Ala1234Thr)
c.3664G>A (p.Ala1222Thr)
1g.236897092G>CCA345391884MTRc.3685G>C (p.Ala1229Pro)
n.4415G>C
c.3532G>C (p.Ala1178Pro)
c.*2727G>C (n.*2727G>C)
c.*2429G>C (n.*2429G>C)
c.3337G>C (p.Ala1113Pro)
n.6812G>C
c.3496G>C (p.Ala1166Pro)
n.6942G>C
c.3505G>C (p.Ala1169Pro)
c.3247G>C (p.Ala1083Pro)
n.3879G>C
c.2347G>C (p.Ala783Pro)
n.1297G>C
c.2464G>C (p.Ala822Pro)
c.3682G>C (p.Ala1228Pro)
c.2749G>C (p.Ala917Pro)
c.3853G>C (p.Ala1285Pro)
c.3700G>C (p.Ala1234Pro)
c.3664G>C (p.Ala1222Pro)
1g.236897092G>TCA345391885MTRc.3685G>T (p.Ala1229Ser)
n.4415G>T
c.3532G>T (p.Ala1178Ser)
c.*2727G>T (n.*2727G>T)
c.*2429G>T (n.*2429G>T)
c.3337G>T (p.Ala1113Ser)
n.6812G>T
c.3496G>T (p.Ala1166Ser)
n.6942G>T
c.3505G>T (p.Ala1169Ser)
c.3247G>T (p.Ala1083Ser)
n.3879G>T
c.2347G>T (p.Ala783Ser)
n.1297G>T
c.2464G>T (p.Ala822Ser)
c.3682G>T (p.Ala1228Ser)
c.2749G>T (p.Ala917Ser)
c.3853G>T (p.Ala1285Ser)
c.3700G>T (p.Ala1234Ser)
c.3664G>T (p.Ala1222Ser)
1g.236897093C>ACA345391894MTRc.3686C>A (p.Ala1229Asp)
n.4416C>A
c.3533C>A (p.Ala1178Asp)
c.*2728C>A (n.*2728C>A)
c.*2430C>A (n.*2430C>A)
c.3338C>A (p.Ala1113Asp)
n.6813C>A
c.3497C>A (p.Ala1166Asp)
n.6943C>A
c.3506C>A (p.Ala1169Asp)
c.3248C>A (p.Ala1083Asp)
n.3880C>A
c.2348C>A (p.Ala783Asp)
n.1298C>A
c.2465C>A (p.Ala822Asp)
c.3683C>A (p.Ala1228Asp)
c.2750C>A (p.Ala917Asp)
c.3854C>A (p.Ala1285Asp)
c.3701C>A (p.Ala1234Asp)
c.3665C>A (p.Ala1222Asp)
1g.236897093C>GCA345391887MTRc.3686C>G (p.Ala1229Gly)
n.4416C>G
c.3533C>G (p.Ala1178Gly)
c.*2728C>G (n.*2728C>G)
c.*2430C>G (n.*2430C>G)
c.3338C>G (p.Ala1113Gly)
n.6813C>G
c.3497C>G (p.Ala1166Gly)
n.6943C>G
c.3506C>G (p.Ala1169Gly)
c.3248C>G (p.Ala1083Gly)
n.3880C>G
c.2348C>G (p.Ala783Gly)
n.1298C>G
c.2465C>G (p.Ala822Gly)
c.3683C>G (p.Ala1228Gly)
c.2750C>G (p.Ala917Gly)
c.3854C>G (p.Ala1285Gly)
c.3701C>G (p.Ala1234Gly)
c.3665C>G (p.Ala1222Gly)
1g.236897093C>TCA345391889MTRc.3686C>T (p.Ala1229Val)
n.4416C>T
c.3533C>T (p.Ala1178Val)
c.*2728C>T (n.*2728C>T)
c.*2430C>T (n.*2430C>T)
c.3338C>T (p.Ala1113Val)
n.6813C>T
c.3497C>T (p.Ala1166Val)
n.6943C>T
c.3506C>T (p.Ala1169Val)
c.3248C>T (p.Ala1083Val)
n.3880C>T
c.2348C>T (p.Ala783Val)
n.1298C>T
c.2465C>T (p.Ala822Val)
c.3683C>T (p.Ala1228Val)
c.2750C>T (p.Ala917Val)
c.3854C>T (p.Ala1285Val)
c.3701C>T (p.Ala1234Val)
c.3665C>T (p.Ala1222Val)
1g.236897094T>ACA423817931MTRc.3687T>A (p.Ala1229=)
n.4417T>A
c.3534T>A (p.Ala1178=)
c.*2729T>A (n.*2729T>A)
c.*2431T>A (n.*2431T>A)
c.3339T>A (p.Ala1113=)
n.6814T>A
c.3498T>A (p.Ala1166=)
n.6944T>A
c.3507T>A (p.Ala1169=)
c.3249T>A (p.Ala1083=)
n.3881T>A
c.2349T>A (p.Ala783=)
n.1299T>A
c.2466T>A (p.Ala822=)
c.3684T>A (p.Ala1228=)
c.2751T>A (p.Ala917=)
c.3855T>A (p.Ala1285=)
c.3702T>A (p.Ala1234=)
c.3666T>A (p.Ala1222=)
1g.236897094T>CCA423817932MTRc.3687T>C (p.Ala1229=)
n.4417T>C
c.3534T>C (p.Ala1178=)
c.*2729T>C (n.*2729T>C)
c.*2431T>C (n.*2431T>C)
c.3339T>C (p.Ala1113=)
n.6814T>C
c.3498T>C (p.Ala1166=)
n.6944T>C
c.3507T>C (p.Ala1169=)
c.3249T>C (p.Ala1083=)
n.3881T>C
c.2349T>C (p.Ala783=)
n.1299T>C
c.2466T>C (p.Ala822=)
c.3684T>C (p.Ala1228=)
c.2751T>C (p.Ala917=)
c.3855T>C (p.Ala1285=)
c.3702T>C (p.Ala1234=)
c.3666T>C (p.Ala1222=)
 dbSNP gnomAD v2
1g.236897094T>GCA423817933MTRc.3687T>G (p.Ala1229=)
n.4417T>G
c.3534T>G (p.Ala1178=)
c.*2729T>G (n.*2729T>G)
c.*2431T>G (n.*2431T>G)
c.3339T>G (p.Ala1113=)
n.6814T>G
c.3498T>G (p.Ala1166=)
n.6944T>G
c.3507T>G (p.Ala1169=)
c.3249T>G (p.Ala1083=)
n.3881T>G
c.2349T>G (p.Ala783=)
n.1299T>G
c.2466T>G (p.Ala822=)
c.3684T>G (p.Ala1228=)
c.2751T>G (p.Ala917=)
c.3855T>G (p.Ala1285=)
c.3702T>G (p.Ala1234=)
c.3666T>G (p.Ala1222=)
1g.236897094T=CA2487108668MTRc.3687T= (p.Ala1229=)
n.4417T=
c.3534T= (p.Ala1178=)
c.*2729T= (n.*2729T=)
c.*2431T= (n.*2431T=)
c.3339T= (p.Ala1113=)
n.6814T=
c.3498T= (p.Ala1166=)
n.6944T=
c.3507T= (p.Ala1169=)
c.3249T= (p.Ala1083=)
n.3881T=
c.2349T= (p.Ala783=)
n.1299T=
c.2466T= (p.Ala822=)
c.3684T= (p.Ala1228=)
c.2751T= (p.Ala917=)
c.3855T= (p.Ala1285=)
c.3702T= (p.Ala1234=)
c.3666T= (p.Ala1222=)
1g.236897095G>ACA345391898MTRc.3688G>A (p.Val1230Met)
n.4418G>A
c.3535G>A (p.Val1179Met)
c.*2730G>A (n.*2730G>A)
c.*2432G>A (n.*2432G>A)
c.3340G>A (p.Val1114Met)
n.6815G>A
c.3499G>A (p.Val1167Met)
n.6945G>A
c.3508G>A (p.Val1170Met)
c.3250G>A (p.Val1084Met)
n.3882G>A
c.2350G>A (p.Val784Met)
n.1300G>A
c.2467G>A (p.Val823Met)
c.3685G>A (p.Val1229Met)
c.2752G>A (p.Val918Met)
c.3856G>A (p.Val1286Met)
c.3703G>A (p.Val1235Met)
c.3667G>A (p.Val1223Met)
1g.236897095G>CCA1474766MTRc.3688G>C (p.Val1230Leu)
n.4418G>C
c.3535G>C (p.Val1179Leu)
c.*2730G>C (n.*2730G>C)
c.*2432G>C (n.*2432G>C)
c.3340G>C (p.Val1114Leu)
n.6815G>C
c.3499G>C (p.Val1167Leu)
n.6945G>C
c.3508G>C (p.Val1170Leu)
c.3250G>C (p.Val1084Leu)
n.3882G>C
c.2350G>C (p.Val784Leu)
n.1300G>C
c.2467G>C (p.Val823Leu)
c.3685G>C (p.Val1229Leu)
c.2752G>C (p.Val918Leu)
c.3856G>C (p.Val1286Leu)
c.3703G>C (p.Val1235Leu)
c.3667G>C (p.Val1223Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.236897095G=CA1141619054MTRc.3688G= (p.Val1230=)
n.4418G=
c.3535G= (p.Val1179=)
c.*2730G= (n.*2730G=)
c.*2432G= (n.*2432G=)
c.3340G= (p.Val1114=)
n.6815G=
c.3499G= (p.Val1167=)
n.6945G=
c.3508G= (p.Val1170=)
c.3250G= (p.Val1084=)
n.3882G=
c.2350G= (p.Val784=)
n.1300G=
c.2467G= (p.Val823=)
c.3685G= (p.Val1229=)
c.2752G= (p.Val918=)
c.3856G= (p.Val1286=)
c.3703G= (p.Val1235=)
c.3667G= (p.Val1223=)
1g.236897095G>TCA345391901MTRc.3688G>T (p.Val1230Leu)
n.4418G>T
c.3535G>T (p.Val1179Leu)
c.*2730G>T (n.*2730G>T)
c.*2432G>T (n.*2432G>T)
c.3340G>T (p.Val1114Leu)
n.6815G>T
c.3499G>T (p.Val1167Leu)
n.6945G>T
c.3508G>T (p.Val1170Leu)
c.3250G>T (p.Val1084Leu)
n.3882G>T
c.2350G>T (p.Val784Leu)
n.1300G>T
c.2467G>T (p.Val823Leu)
c.3685G>T (p.Val1229Leu)
c.2752G>T (p.Val918Leu)
c.3856G>T (p.Val1286Leu)
c.3703G>T (p.Val1235Leu)
c.3667G>T (p.Val1223Leu)
1g.236897096T>ACA345391904MTRc.3689T>A (p.Val1230Glu)
n.4419T>A
c.3536T>A (p.Val1179Glu)
c.*2731T>A (n.*2731T>A)
c.*2433T>A (n.*2433T>A)
c.3341T>A (p.Val1114Glu)
n.6816T>A
c.3500T>A (p.Val1167Glu)
n.6946T>A
c.3509T>A (p.Val1170Glu)
c.3251T>A (p.Val1084Glu)
n.3883T>A
c.2351T>A (p.Val784Glu)
n.1301T>A
c.2468T>A (p.Val823Glu)
c.3686T>A (p.Val1229Glu)
c.2753T>A (p.Val918Glu)
c.3857T>A (p.Val1286Glu)
c.3704T>A (p.Val1235Glu)
c.3668T>A (p.Val1223Glu)
1g.236897096T>CCA345391907MTRc.3689T>C (p.Val1230Ala)
n.4419T>C
c.3536T>C (p.Val1179Ala)
c.*2731T>C (n.*2731T>C)
c.*2433T>C (n.*2433T>C)
c.3341T>C (p.Val1114Ala)
n.6816T>C
c.3500T>C (p.Val1167Ala)
n.6946T>C
c.3509T>C (p.Val1170Ala)
c.3251T>C (p.Val1084Ala)
n.3883T>C
c.2351T>C (p.Val784Ala)
n.1301T>C
c.2468T>C (p.Val823Ala)
c.3686T>C (p.Val1229Ala)
c.2753T>C (p.Val918Ala)
c.3857T>C (p.Val1286Ala)
c.3704T>C (p.Val1235Ala)
c.3668T>C (p.Val1223Ala)
1g.236897096T>GCA345391909MTRc.3689T>G (p.Val1230Gly)
n.4419T>G
c.3536T>G (p.Val1179Gly)
c.*2731T>G (n.*2731T>G)
c.*2433T>G (n.*2433T>G)
c.3341T>G (p.Val1114Gly)
n.6816T>G
c.3500T>G (p.Val1167Gly)
n.6946T>G
c.3509T>G (p.Val1170Gly)
c.3251T>G (p.Val1084Gly)
n.3883T>G
c.2351T>G (p.Val784Gly)
n.1301T>G
c.2468T>G (p.Val823Gly)
c.3686T>G (p.Val1229Gly)
c.2753T>G (p.Val918Gly)
c.3857T>G (p.Val1286Gly)
c.3704T>G (p.Val1235Gly)
c.3668T>G (p.Val1223Gly)
1g.236897097G>ACA423817934MTRc.3690G>A (p.Val1230=)
n.4420G>A
c.3537G>A (p.Val1179=)
c.*2732G>A (n.*2732G>A)
c.*2434G>A (n.*2434G>A)
c.3342G>A (p.Val1114=)
n.6817G>A
c.3501G>A (p.Val1167=)
n.6947G>A
c.3510G>A (p.Val1170=)
c.3252G>A (p.Val1084=)
n.3884G>A
c.2352G>A (p.Val784=)
n.1302G>A
c.2469G>A (p.Val823=)
c.3687G>A (p.Val1229=)
c.2754G>A (p.Val918=)
c.3858G>A (p.Val1286=)
c.3705G>A (p.Val1235=)
c.3669G>A (p.Val1223=)
1g.236897097G>CCA423817935MTRc.3690G>C (p.Val1230=)
n.4420G>C
c.3537G>C (p.Val1179=)
c.*2732G>C (n.*2732G>C)
c.*2434G>C (n.*2434G>C)
c.3342G>C (p.Val1114=)
n.6817G>C
c.3501G>C (p.Val1167=)
n.6947G>C
c.3510G>C (p.Val1170=)
c.3252G>C (p.Val1084=)
n.3884G>C
c.2352G>C (p.Val784=)
n.1302G>C
c.2469G>C (p.Val823=)
c.3687G>C (p.Val1229=)
c.2754G>C (p.Val918=)
c.3858G>C (p.Val1286=)
c.3705G>C (p.Val1235=)
c.3669G>C (p.Val1223=)
1g.236897097G>TCA423817936MTRc.3690G>T (p.Val1230=)
n.4420G>T
c.3537G>T (p.Val1179=)
c.*2732G>T (n.*2732G>T)
c.*2434G>T (n.*2434G>T)
c.3342G>T (p.Val1114=)
n.6817G>T
c.3501G>T (p.Val1167=)
n.6947G>T
c.3510G>T (p.Val1170=)
c.3252G>T (p.Val1084=)
n.3884G>T
c.2352G>T (p.Val784=)
n.1302G>T
c.2469G>T (p.Val823=)
c.3687G>T (p.Val1229=)
c.2754G>T (p.Val918=)
c.3858G>T (p.Val1286=)
c.3705G>T (p.Val1235=)
c.3669G>T (p.Val1223=)
1g.236897098G>ACA345391912MTRc.3691G>A (p.Gly1231Arg)
n.4421G>A
c.3538G>A (p.Gly1180Arg)
c.*2733G>A (n.*2733G>A)
c.*2435G>A (n.*2435G>A)
c.3343G>A (p.Gly1115Arg)
n.6818G>A
c.3502G>A (p.Gly1168Arg)
n.6948G>A
c.3511G>A (p.Gly1171Arg)
c.3253G>A (p.Gly1085Arg)
n.3885G>A
c.2353G>A (p.Gly785Arg)
n.1303G>A
c.2470G>A (p.Gly824Arg)
c.3688G>A (p.Gly1230Arg)
c.2755G>A (p.Gly919Arg)
c.3859G>A (p.Gly1287Arg)
c.3706G>A (p.Gly1236Arg)
c.3670G>A (p.Gly1224Arg)
1g.236897098G>CCA345391914MTRc.3691G>C (p.Gly1231Arg)
n.4421G>C
c.3538G>C (p.Gly1180Arg)
c.*2733G>C (n.*2733G>C)
c.*2435G>C (n.*2435G>C)
c.3343G>C (p.Gly1115Arg)
n.6818G>C
c.3502G>C (p.Gly1168Arg)
n.6948G>C
c.3511G>C (p.Gly1171Arg)
c.3253G>C (p.Gly1085Arg)
n.3885G>C
c.2353G>C (p.Gly785Arg)
n.1303G>C
c.2470G>C (p.Gly824Arg)
c.3688G>C (p.Gly1230Arg)
c.2755G>C (p.Gly919Arg)
c.3859G>C (p.Gly1287Arg)
c.3706G>C (p.Gly1236Arg)
c.3670G>C (p.Gly1224Arg)
1g.236897098G>TCA345391916MTRc.3691G>T (p.Gly1231Trp)
n.4421G>T
c.3538G>T (p.Gly1180Trp)
c.*2733G>T (n.*2733G>T)
c.*2435G>T (n.*2435G>T)
c.3343G>T (p.Gly1115Trp)
n.6818G>T
c.3502G>T (p.Gly1168Trp)
n.6948G>T
c.3511G>T (p.Gly1171Trp)
c.3253G>T (p.Gly1085Trp)
n.3885G>T
c.2353G>T (p.Gly785Trp)
n.1303G>T
c.2470G>T (p.Gly824Trp)
c.3688G>T (p.Gly1230Trp)
c.2755G>T (p.Gly919Trp)
c.3859G>T (p.Gly1287Trp)
c.3706G>T (p.Gly1236Trp)
c.3670G>T (p.Gly1224Trp)
1g.236897099G>ACA345391918MTRc.3692G>A (p.Gly1231Glu)
n.4422G>A
c.3539G>A (p.Gly1180Glu)
c.*2734G>A (n.*2734G>A)
c.*2436G>A (n.*2436G>A)
c.3344G>A (p.Gly1115Glu)
n.6819G>A
c.3503G>A (p.Gly1168Glu)
n.6949G>A
c.3512G>A (p.Gly1171Glu)
c.3254G>A (p.Gly1085Glu)
n.3886G>A
c.2354G>A (p.Gly785Glu)
n.1304G>A
c.2471G>A (p.Gly824Glu)
c.3689G>A (p.Gly1230Glu)
c.2756G>A (p.Gly919Glu)
c.3860G>A (p.Gly1287Glu)
c.3707G>A (p.Gly1236Glu)
c.3671G>A (p.Gly1224Glu)
 dbSNP
1g.236897099G>CCA345391920MTRc.3692G>C (p.Gly1231Ala)
n.4422G>C
c.3539G>C (p.Gly1180Ala)
c.*2734G>C (n.*2734G>C)
c.*2436G>C (n.*2436G>C)
c.3344G>C (p.Gly1115Ala)
n.6819G>C
c.3503G>C (p.Gly1168Ala)
n.6949G>C
c.3512G>C (p.Gly1171Ala)
c.3254G>C (p.Gly1085Ala)
n.3886G>C
c.2354G>C (p.Gly785Ala)
n.1304G>C
c.2471G>C (p.Gly824Ala)
c.3689G>C (p.Gly1230Ala)
c.2756G>C (p.Gly919Ala)
c.3860G>C (p.Gly1287Ala)
c.3707G>C (p.Gly1236Ala)
c.3671G>C (p.Gly1224Ala)
1g.236897099G=CA2487108669MTRc.3692G= (p.Gly1231=)
n.4422G=
c.3539G= (p.Gly1180=)
c.*2734G= (n.*2734G=)
c.*2436G= (n.*2436G=)
c.3344G= (p.Gly1115=)
n.6819G=
c.3503G= (p.Gly1168=)
n.6949G=
c.3512G= (p.Gly1171=)
c.3254G= (p.Gly1085=)
n.3886G=
c.2354G= (p.Gly785=)
n.1304G=
c.2471G= (p.Gly824=)
c.3689G= (p.Gly1230=)
c.2756G= (p.Gly919=)
c.3860G= (p.Gly1287=)
c.3707G= (p.Gly1236=)
c.3671G= (p.Gly1224=)
1g.236897099G>TCA345391922MTRc.3692G>T (p.Gly1231Val)
n.4422G>T
c.3539G>T (p.Gly1180Val)
c.*2734G>T (n.*2734G>T)
c.*2436G>T (n.*2436G>T)
c.3344G>T (p.Gly1115Val)
n.6819G>T
c.3503G>T (p.Gly1168Val)
n.6949G>T
c.3512G>T (p.Gly1171Val)
c.3254G>T (p.Gly1085Val)
n.3886G>T
c.2354G>T (p.Gly785Val)
n.1304G>T
c.2471G>T (p.Gly824Val)
c.3689G>T (p.Gly1230Val)
c.2756G>T (p.Gly919Val)
c.3860G>T (p.Gly1287Val)
c.3707G>T (p.Gly1236Val)
c.3671G>T (p.Gly1224Val)
1g.236897100G>ACA423817937MTRc.3693G>A (p.Gly1231=)
n.4423G>A
c.3540G>A (p.Gly1180=)
c.*2735G>A (n.*2735G>A)
c.*2437G>A (n.*2437G>A)
c.3345G>A (p.Gly1115=)
n.6820G>A
c.3504G>A (p.Gly1168=)
n.6950G>A
c.3513G>A (p.Gly1171=)
c.3255G>A (p.Gly1085=)
n.3887G>A
c.2355G>A (p.Gly785=)
n.1305G>A
c.2472G>A (p.Gly824=)
c.3690G>A (p.Gly1230=)
c.2757G>A (p.Gly919=)
c.3861G>A (p.Gly1287=)
c.3708G>A (p.Gly1236=)
c.3672G>A (p.Gly1224=)
 ClinVar
1g.236897100G>CCA423817938MTRc.3693G>C (p.Gly1231=)
n.4423G>C
c.3540G>C (p.Gly1180=)
c.*2735G>C (n.*2735G>C)
c.*2437G>C (n.*2437G>C)
c.3345G>C (p.Gly1115=)
n.6820G>C
c.3504G>C (p.Gly1168=)
n.6950G>C
c.3513G>C (p.Gly1171=)
c.3255G>C (p.Gly1085=)
n.3887G>C
c.2355G>C (p.Gly785=)
n.1305G>C
c.2472G>C (p.Gly824=)
c.3690G>C (p.Gly1230=)
c.2757G>C (p.Gly919=)
c.3861G>C (p.Gly1287=)
c.3708G>C (p.Gly1236=)
c.3672G>C (p.Gly1224=)
1g.236897100G>TCA423817939MTRc.3693G>T (p.Gly1231=)
n.4423G>T
c.3540G>T (p.Gly1180=)
c.*2735G>T (n.*2735G>T)
c.*2437G>T (n.*2437G>T)
c.3345G>T (p.Gly1115=)
n.6820G>T
c.3504G>T (p.Gly1168=)
n.6950G>T
c.3513G>T (p.Gly1171=)
c.3255G>T (p.Gly1085=)
n.3887G>T
c.2355G>T (p.Gly785=)
n.1305G>T
c.2472G>T (p.Gly824=)
c.3690G>T (p.Gly1230=)
c.2757G>T (p.Gly919=)
c.3861G>T (p.Gly1287=)
c.3708G>T (p.Gly1236=)
c.3672G>T (p.Gly1224=)
1g.236897101A>CCA345391927MTRc.3694A>C (p.Lys1232Gln)
n.4424A>C
c.3541A>C (p.Lys1181Gln)
c.*2736A>C (n.*2736A>C)
c.*2438A>C (n.*2438A>C)
c.3346A>C (p.Lys1116Gln)
n.6821A>C
c.3505A>C (p.Lys1169Gln)
n.6951A>C
c.3514A>C (p.Lys1172Gln)
c.3256A>C (p.Lys1086Gln)
n.3888A>C
c.2356A>C (p.Lys786Gln)
n.1306A>C
c.2473A>C (p.Lys825Gln)
c.3691A>C (p.Lys1231Gln)
c.2758A>C (p.Lys920Gln)
c.3862A>C (p.Lys1288Gln)
c.3709A>C (p.Lys1237Gln)
c.3673A>C (p.Lys1225Gln)
1g.236897101A>GCA345391930MTRc.3694A>G (p.Lys1232Glu)
n.4424A>G
c.3541A>G (p.Lys1181Glu)
c.*2736A>G (n.*2736A>G)
c.*2438A>G (n.*2438A>G)
c.3346A>G (p.Lys1116Glu)
n.6821A>G
c.3505A>G (p.Lys1169Glu)
n.6951A>G
c.3514A>G (p.Lys1172Glu)
c.3256A>G (p.Lys1086Glu)
n.3888A>G
c.2356A>G (p.Lys786Glu)
n.1306A>G
c.2473A>G (p.Lys825Glu)
c.3691A>G (p.Lys1231Glu)
c.2758A>G (p.Lys920Glu)
c.3862A>G (p.Lys1288Glu)
c.3709A>G (p.Lys1237Glu)
c.3673A>G (p.Lys1225Glu)
1g.236897101A>TCA345391925MTRc.3694A>T (p.Lys1232Ter)
n.4424A>T
c.3541A>T (p.Lys1181Ter)
c.*2736A>T (n.*2736A>T)
c.*2438A>T (n.*2438A>T)
c.3346A>T (p.Lys1116Ter)
n.6821A>T
c.3505A>T (p.Lys1169Ter)
n.6951A>T
c.3514A>T (p.Lys1172Ter)
c.3256A>T (p.Lys1086Ter)
n.3888A>T
c.2356A>T (p.Lys786Ter)
n.1306A>T
c.2473A>T (p.Lys825Ter)
c.3691A>T (p.Lys1231Ter)
c.2758A>T (p.Lys920Ter)
c.3862A>T (p.Lys1288Ter)
c.3709A>T (p.Lys1237Ter)
c.3673A>T (p.Lys1225Ter)
1g.236897102A>CCA345391932MTRc.3695A>C (p.Lys1232Thr)
n.4425A>C
c.3542A>C (p.Lys1181Thr)
c.*2737A>C (n.*2737A>C)
c.*2439A>C (n.*2439A>C)
c.3347A>C (p.Lys1116Thr)
n.6822A>C
c.3506A>C (p.Lys1169Thr)
n.6952A>C
c.3515A>C (p.Lys1172Thr)
c.3257A>C (p.Lys1086Thr)
n.3889A>C
c.2357A>C (p.Lys786Thr)
n.1307A>C
c.2474A>C (p.Lys825Thr)
c.3692A>C (p.Lys1231Thr)
c.2759A>C (p.Lys920Thr)
c.3863A>C (p.Lys1288Thr)
c.3710A>C (p.Lys1237Thr)
c.3674A>C (p.Lys1225Thr)
1g.236897102A>GCA345391936MTRc.3695A>G (p.Lys1232Arg)
n.4425A>G
c.3542A>G (p.Lys1181Arg)
c.*2737A>G (n.*2737A>G)
c.*2439A>G (n.*2439A>G)
c.3347A>G (p.Lys1116Arg)
n.6822A>G
c.3506A>G (p.Lys1169Arg)
n.6952A>G
c.3515A>G (p.Lys1172Arg)
c.3257A>G (p.Lys1086Arg)
n.3889A>G
c.2357A>G (p.Lys786Arg)
n.1307A>G
c.2474A>G (p.Lys825Arg)
c.3692A>G (p.Lys1231Arg)
c.2759A>G (p.Lys920Arg)
c.3863A>G (p.Lys1288Arg)
c.3710A>G (p.Lys1237Arg)
c.3674A>G (p.Lys1225Arg)
 ClinVar gnomAD v4
1g.236897102A>TCA345391938MTRc.3695A>T (p.Lys1232Met)
n.4425A>T
c.3542A>T (p.Lys1181Met)
c.*2737A>T (n.*2737A>T)
c.*2439A>T (n.*2439A>T)
c.3347A>T (p.Lys1116Met)
n.6822A>T
c.3506A>T (p.Lys1169Met)
n.6952A>T
c.3515A>T (p.Lys1172Met)
c.3257A>T (p.Lys1086Met)
n.3889A>T
c.2357A>T (p.Lys786Met)
n.1307A>T
c.2474A>T (p.Lys825Met)
c.3692A>T (p.Lys1231Met)
c.2759A>T (p.Lys920Met)
c.3863A>T (p.Lys1288Met)
c.3710A>T (p.Lys1237Met)
c.3674A>T (p.Lys1225Met)
1g.236897103G>ACA423817940MTRc.3696G>A (p.Lys1232=)
n.4426G>A
c.3543G>A (p.Lys1181=)
c.*2738G>A (n.*2738G>A)
c.*2440G>A (n.*2440G>A)
c.3348G>A (p.Lys1116=)
n.6823G>A
c.3507G>A (p.Lys1169=)
n.6953G>A
c.3516G>A (p.Lys1172=)
c.3258G>A (p.Lys1086=)
n.3890G>A
c.2358G>A (p.Lys786=)
n.1308G>A
c.2475G>A (p.Lys825=)
c.3693G>A (p.Lys1231=)
c.2760G>A (p.Lys920=)
c.3864G>A (p.Lys1288=)
c.3711G>A (p.Lys1237=)
c.3675G>A (p.Lys1225=)
1g.236897103G>CCA345391939MTRc.3696G>C (p.Lys1232Asn)
n.4426G>C
c.3543G>C (p.Lys1181Asn)
c.*2738G>C (n.*2738G>C)
c.*2440G>C (n.*2440G>C)
c.3348G>C (p.Lys1116Asn)
n.6823G>C
c.3507G>C (p.Lys1169Asn)
n.6953G>C
c.3516G>C (p.Lys1172Asn)
c.3258G>C (p.Lys1086Asn)
n.3890G>C
c.2358G>C (p.Lys786Asn)
n.1308G>C
c.2475G>C (p.Lys825Asn)
c.3693G>C (p.Lys1231Asn)
c.2760G>C (p.Lys920Asn)
c.3864G>C (p.Lys1288Asn)
c.3711G>C (p.Lys1237Asn)
c.3675G>C (p.Lys1225Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.236897103G=CA2487108670MTRc.3696G= (p.Lys1232=)
n.4426G=
c.3543G= (p.Lys1181=)
c.*2738G= (n.*2738G=)
c.*2440G= (n.*2440G=)
c.3348G= (p.Lys1116=)
n.6823G=
c.3507G= (p.Lys1169=)
n.6953G=
c.3516G= (p.Lys1172=)
c.3258G= (p.Lys1086=)
n.3890G=
c.2358G= (p.Lys786=)
n.1308G=
c.2475G= (p.Lys825=)
c.3693G= (p.Lys1231=)
c.2760G= (p.Lys920=)
c.3864G= (p.Lys1288=)
c.3711G= (p.Lys1237=)
c.3675G= (p.Lys1225=)
1g.236897103G>TCA345391941MTRc.3696G>T (p.Lys1232Asn)
n.4426G>T
c.3543G>T (p.Lys1181Asn)
c.*2738G>T (n.*2738G>T)
c.*2440G>T (n.*2440G>T)
c.3348G>T (p.Lys1116Asn)
n.6823G>T
c.3507G>T (p.Lys1169Asn)
n.6953G>T
c.3516G>T (p.Lys1172Asn)
c.3258G>T (p.Lys1086Asn)
n.3890G>T
c.2358G>T (p.Lys786Asn)
n.1308G>T
c.2475G>T (p.Lys825Asn)
c.3693G>T (p.Lys1231Asn)
c.2760G>T (p.Lys920Asn)
c.3864G>T (p.Lys1288Asn)
c.3711G>T (p.Lys1237Asn)
c.3675G>T (p.Lys1225Asn)
 gnomAD v4
1g.236897104A>CCA345391943MTRc.3697A>C (p.Ile1233Leu)
n.4427A>C
c.3544A>C (p.Ile1182Leu)
c.*2739A>C (n.*2739A>C)
c.*2441A>C (n.*2441A>C)
c.3349A>C (p.Ile1117Leu)
n.6824A>C
c.3508A>C (p.Ile1170Leu)
n.6954A>C
c.3517A>C (p.Ile1173Leu)
c.3259A>C (p.Ile1087Leu)
n.3891A>C
c.2359A>C (p.Ile787Leu)
n.1309A>C
c.2476A>C (p.Ile826Leu)
c.3694A>C (p.Ile1232Leu)
c.2761A>C (p.Ile921Leu)
c.3865A>C (p.Ile1289Leu)
c.3712A>C (p.Ile1238Leu)
c.3676A>C (p.Ile1226Leu)
1g.236897104A>GCA345391945MTRc.3697A>G (p.Ile1233Val)
n.4427A>G
c.3544A>G (p.Ile1182Val)
c.*2739A>G (n.*2739A>G)
c.*2441A>G (n.*2441A>G)
c.3349A>G (p.Ile1117Val)
n.6824A>G
c.3508A>G (p.Ile1170Val)
n.6954A>G
c.3517A>G (p.Ile1173Val)
c.3259A>G (p.Ile1087Val)
n.3891A>G
c.2359A>G (p.Ile787Val)
n.1309A>G
c.2476A>G (p.Ile826Val)
c.3694A>G (p.Ile1232Val)
c.2761A>G (p.Ile921Val)
c.3865A>G (p.Ile1289Val)
c.3712A>G (p.Ile1238Val)
c.3676A>G (p.Ile1226Val)
 gnomAD v4
1g.236897104A>TCA345391946MTRc.3697A>T (p.Ile1233Phe)
n.4427A>T
c.3544A>T (p.Ile1182Phe)
c.*2739A>T (n.*2739A>T)
c.*2441A>T (n.*2441A>T)
c.3349A>T (p.Ile1117Phe)
n.6824A>T
c.3508A>T (p.Ile1170Phe)
n.6954A>T
c.3517A>T (p.Ile1173Phe)
c.3259A>T (p.Ile1087Phe)
n.3891A>T
c.2359A>T (p.Ile787Phe)
n.1309A>T
c.2476A>T (p.Ile826Phe)
c.3694A>T (p.Ile1232Phe)
c.2761A>T (p.Ile921Phe)
c.3865A>T (p.Ile1289Phe)
c.3712A>T (p.Ile1238Phe)
c.3676A>T (p.Ile1226Phe)
1g.236897105T>ACA345391952MTRc.3698T>A (p.Ile1233Asn)
n.4428T>A
c.3545T>A (p.Ile1182Asn)
c.*2740T>A (n.*2740T>A)
c.*2442T>A (n.*2442T>A)
c.3350T>A (p.Ile1117Asn)
n.6825T>A
c.3509T>A (p.Ile1170Asn)
n.6955T>A
c.3518T>A (p.Ile1173Asn)
c.3260T>A (p.Ile1087Asn)
n.3892T>A
c.2360T>A (p.Ile787Asn)
n.1310T>A
c.2477T>A (p.Ile826Asn)
c.3695T>A (p.Ile1232Asn)
c.2762T>A (p.Ile921Asn)
c.3866T>A (p.Ile1289Asn)
c.3713T>A (p.Ile1238Asn)
c.3677T>A (p.Ile1226Asn)
1g.236897105T>CCA345391955MTRc.3698T>C (p.Ile1233Thr)
n.4428T>C
c.3545T>C (p.Ile1182Thr)
c.*2740T>C (n.*2740T>C)
c.*2442T>C (n.*2442T>C)
c.3350T>C (p.Ile1117Thr)
n.6825T>C
c.3509T>C (p.Ile1170Thr)
n.6955T>C
c.3518T>C (p.Ile1173Thr)
c.3260T>C (p.Ile1087Thr)
n.3892T>C
c.2360T>C (p.Ile787Thr)
n.1310T>C
c.2477T>C (p.Ile826Thr)
c.3695T>C (p.Ile1232Thr)
c.2762T>C (p.Ile921Thr)
c.3866T>C (p.Ile1289Thr)
c.3713T>C (p.Ile1238Thr)
c.3677T>C (p.Ile1226Thr)
1g.236897105T>GCA345391956MTRc.3698T>G (p.Ile1233Ser)
n.4428T>G
c.3545T>G (p.Ile1182Ser)
c.*2740T>G (n.*2740T>G)
c.*2442T>G (n.*2442T>G)
c.3350T>G (p.Ile1117Ser)
n.6825T>G
c.3509T>G (p.Ile1170Ser)
n.6955T>G
c.3518T>G (p.Ile1173Ser)
c.3260T>G (p.Ile1087Ser)
n.3892T>G
c.2360T>G (p.Ile787Ser)
n.1310T>G
c.2477T>G (p.Ile826Ser)
c.3695T>G (p.Ile1232Ser)
c.2762T>G (p.Ile921Ser)
c.3866T>G (p.Ile1289Ser)
c.3713T>G (p.Ile1238Ser)
c.3677T>G (p.Ile1226Ser)
1g.236897106T>ACA423817941MTRc.3699T>A (p.Ile1233=)
n.4429T>A
c.3546T>A (p.Ile1182=)
c.*2741T>A (n.*2741T>A)
c.*2443T>A (n.*2443T>A)
c.3351T>A (p.Ile1117=)
n.6826T>A
c.3510T>A (p.Ile1170=)
n.6956T>A
c.3519T>A (p.Ile1173=)
c.3261T>A (p.Ile1087=)
n.3893T>A
c.2361T>A (p.Ile787=)
n.1311T>A
c.2478T>A (p.Ile826=)
c.3696T>A (p.Ile1232=)
c.2763T>A (p.Ile921=)
c.3867T>A (p.Ile1289=)
c.3714T>A (p.Ile1238=)
c.3678T>A (p.Ile1226=)
 ClinVar
1g.236897106T>CCA423817942MTRc.3699T>C (p.Ile1233=)
n.4429T>C
c.3546T>C (p.Ile1182=)
c.*2741T>C (n.*2741T>C)
c.*2443T>C (n.*2443T>C)
c.3351T>C (p.Ile1117=)
n.6826T>C
c.3510T>C (p.Ile1170=)
n.6956T>C
c.3519T>C (p.Ile1173=)
c.3261T>C (p.Ile1087=)
n.3893T>C
c.2361T>C (p.Ile787=)
n.1311T>C
c.2478T>C (p.Ile826=)
c.3696T>C (p.Ile1232=)
c.2763T>C (p.Ile921=)
c.3867T>C (p.Ile1289=)
c.3714T>C (p.Ile1238=)
c.3678T>C (p.Ile1226=)
1g.236897106T>GCA345391959MTRc.3699T>G (p.Ile1233Met)
n.4429T>G
c.3546T>G (p.Ile1182Met)
c.*2741T>G (n.*2741T>G)
c.*2443T>G (n.*2443T>G)
c.3351T>G (p.Ile1117Met)
n.6826T>G
c.3510T>G (p.Ile1170Met)
n.6956T>G
c.3519T>G (p.Ile1173Met)
c.3261T>G (p.Ile1087Met)
n.3893T>G
c.2361T>G (p.Ile787Met)
n.1311T>G
c.2478T>G (p.Ile826Met)
c.3696T>G (p.Ile1232Met)
c.2763T>G (p.Ile921Met)
c.3867T>G (p.Ile1289Met)
c.3714T>G (p.Ile1238Met)
c.3678T>G (p.Ile1226Met)
1g.236897107T>ACA345391963MTRc.3700T>A (p.Ser1234Thr)
n.4430T>A
c.3547T>A (p.Ser1183Thr)
c.*2742T>A (n.*2742T>A)
c.*2444T>A (n.*2444T>A)
c.3352T>A (p.Ser1118Thr)
n.6827T>A
c.3511T>A (p.Ser1171Thr)
n.6957T>A
c.3520T>A (p.Ser1174Thr)
c.3262T>A (p.Ser1088Thr)
n.3894T>A
c.2362T>A (p.Ser788Thr)
n.1312T>A
c.2479T>A (p.Ser827Thr)
c.3697T>A (p.Ser1233Thr)
c.2764T>A (p.Ser922Thr)
c.3868T>A (p.Ser1290Thr)
c.3715T>A (p.Ser1239Thr)
c.3679T>A (p.Ser1227Thr)
1g.236897107T>CCA345391964MTRc.3700T>C (p.Ser1234Pro)
n.4430T>C
c.3547T>C (p.Ser1183Pro)
c.*2742T>C (n.*2742T>C)
c.*2444T>C (n.*2444T>C)
c.3352T>C (p.Ser1118Pro)
n.6827T>C
c.3511T>C (p.Ser1171Pro)
n.6957T>C
c.3520T>C (p.Ser1174Pro)
c.3262T>C (p.Ser1088Pro)
n.3894T>C
c.2362T>C (p.Ser788Pro)
n.1312T>C
c.2479T>C (p.Ser827Pro)
c.3697T>C (p.Ser1233Pro)
c.2764T>C (p.Ser922Pro)
c.3868T>C (p.Ser1290Pro)
c.3715T>C (p.Ser1239Pro)
c.3679T>C (p.Ser1227Pro)
1g.236897107T>GCA345391961MTRc.3700T>G (p.Ser1234Ala)
n.4430T>G
c.3547T>G (p.Ser1183Ala)
c.*2742T>G (n.*2742T>G)
c.*2444T>G (n.*2444T>G)
c.3352T>G (p.Ser1118Ala)
n.6827T>G
c.3511T>G (p.Ser1171Ala)
n.6957T>G
c.3520T>G (p.Ser1174Ala)
c.3262T>G (p.Ser1088Ala)
n.3894T>G
c.2362T>G (p.Ser788Ala)
n.1312T>G
c.2479T>G (p.Ser827Ala)
c.3697T>G (p.Ser1233Ala)
c.2764T>G (p.Ser922Ala)
c.3868T>G (p.Ser1290Ala)
c.3715T>G (p.Ser1239Ala)
c.3679T>G (p.Ser1227Ala)
 gnomAD v4
1g.236897108C>ACA345391966MTRc.3701C>A (p.Ser1234Tyr)
n.4431C>A
c.3548C>A (p.Ser1183Tyr)
c.*2743C>A (n.*2743C>A)
c.*2445C>A (n.*2445C>A)
c.3353C>A (p.Ser1118Tyr)
n.6828C>A
c.3512C>A (p.Ser1171Tyr)
n.6958C>A
c.3521C>A (p.Ser1174Tyr)
c.3263C>A (p.Ser1088Tyr)
n.3895C>A
c.2363C>A (p.Ser788Tyr)
n.1313C>A
c.2480C>A (p.Ser827Tyr)
c.3698C>A (p.Ser1233Tyr)
c.2765C>A (p.Ser922Tyr)
c.3869C>A (p.Ser1290Tyr)
c.3716C>A (p.Ser1239Tyr)
c.3680C>A (p.Ser1227Tyr)
1g.236897108C>GCA345391972MTRc.3701C>G (p.Ser1234Cys)
n.4431C>G
c.3548C>G (p.Ser1183Cys)
c.*2743C>G (n.*2743C>G)
c.*2445C>G (n.*2445C>G)
c.3353C>G (p.Ser1118Cys)
n.6828C>G
c.3512C>G (p.Ser1171Cys)
n.6958C>G
c.3521C>G (p.Ser1174Cys)
c.3263C>G (p.Ser1088Cys)
n.3895C>G
c.2363C>G (p.Ser788Cys)
n.1313C>G
c.2480C>G (p.Ser827Cys)
c.3698C>G (p.Ser1233Cys)
c.2765C>G (p.Ser922Cys)
c.3869C>G (p.Ser1290Cys)
c.3716C>G (p.Ser1239Cys)
c.3680C>G (p.Ser1227Cys)
1g.236897108C>TCA345391975MTRc.3701C>T (p.Ser1234Phe)
n.4431C>T
c.3548C>T (p.Ser1183Phe)
c.*2743C>T (n.*2743C>T)
c.*2445C>T (n.*2445C>T)
c.3353C>T (p.Ser1118Phe)
n.6828C>T
c.3512C>T (p.Ser1171Phe)
n.6958C>T
c.3521C>T (p.Ser1174Phe)
c.3263C>T (p.Ser1088Phe)
n.3895C>T
c.2363C>T (p.Ser788Phe)
n.1313C>T
c.2480C>T (p.Ser827Phe)
c.3698C>T (p.Ser1233Phe)
c.2765C>T (p.Ser922Phe)
c.3869C>T (p.Ser1290Phe)
c.3716C>T (p.Ser1239Phe)
c.3680C>T (p.Ser1227Phe)
1g.236897109C>ACA423817944MTRc.3702C>A (p.Ser1234=)
n.4432C>A
c.3549C>A (p.Ser1183=)
c.*2744C>A (n.*2744C>A)
c.*2446C>A (n.*2446C>A)
c.3354C>A (p.Ser1118=)
n.6829C>A
c.3513C>A (p.Ser1171=)
n.6959C>A
c.3522C>A (p.Ser1174=)
c.3264C>A (p.Ser1088=)
n.3896C>A
c.2364C>A (p.Ser788=)
n.1314C>A
c.2481C>A (p.Ser827=)
c.3699C>A (p.Ser1233=)
c.2766C>A (p.Ser922=)
c.3870C>A (p.Ser1290=)
c.3717C>A (p.Ser1239=)
c.3681C>A (p.Ser1227=)
 dbSNP gnomAD v3 gnomAD v4
1g.236897109C=CA2487108671MTRc.3702C= (p.Ser1234=)
n.4432C=
c.3549C= (p.Ser1183=)
c.*2744C= (n.*2744C=)
c.*2446C= (n.*2446C=)
c.3354C= (p.Ser1118=)
n.6829C=
c.3513C= (p.Ser1171=)
n.6959C=
c.3522C= (p.Ser1174=)
c.3264C= (p.Ser1088=)
n.3896C=
c.2364C= (p.Ser788=)
n.1314C=
c.2481C= (p.Ser827=)
c.3699C= (p.Ser1233=)
c.2766C= (p.Ser922=)
c.3870C= (p.Ser1290=)
c.3717C= (p.Ser1239=)
c.3681C= (p.Ser1227=)
1g.236897109C>GCA423817945MTRc.3702C>G (p.Ser1234=)
n.4432C>G
c.3549C>G (p.Ser1183=)
c.*2744C>G (n.*2744C>G)
c.*2446C>G (n.*2446C>G)
c.3354C>G (p.Ser1118=)
n.6829C>G
c.3513C>G (p.Ser1171=)
n.6959C>G
c.3522C>G (p.Ser1174=)
c.3264C>G (p.Ser1088=)
n.3896C>G
c.2364C>G (p.Ser788=)
n.1314C>G
c.2481C>G (p.Ser827=)
c.3699C>G (p.Ser1233=)
c.2766C>G (p.Ser922=)
c.3870C>G (p.Ser1290=)
c.3717C>G (p.Ser1239=)
c.3681C>G (p.Ser1227=)
1g.236897109C>TCA423817943MTRc.3702C>T (p.Ser1234=)
n.4432C>T
c.3549C>T (p.Ser1183=)
c.*2744C>T (n.*2744C>T)
c.*2446C>T (n.*2446C>T)
c.3354C>T (p.Ser1118=)
n.6829C>T
c.3513C>T (p.Ser1171=)
n.6959C>T
c.3522C>T (p.Ser1174=)
c.3264C>T (p.Ser1088=)
n.3896C>T
c.2364C>T (p.Ser788=)
n.1314C>T
c.2481C>T (p.Ser827=)
c.3699C>T (p.Ser1233=)
c.2766C>T (p.Ser922=)
c.3870C>T (p.Ser1290=)
c.3717C>T (p.Ser1239=)
c.3681C>T (p.Ser1227=)
 dbSNP gnomAD v4
1g.236897110A>CCA345391976MTRc.3703A>C (p.Lys1235Gln)
n.4433A>C
c.3550A>C (p.Lys1184Gln)
c.*2745A>C (n.*2745A>C)
c.*2447A>C (n.*2447A>C)
c.3355A>C (p.Lys1119Gln)
n.6830A>C
c.3514A>C (p.Lys1172Gln)
n.6960A>C
c.3523A>C (p.Lys1175Gln)
c.3265A>C (p.Lys1089Gln)
n.3897A>C
c.2365A>C (p.Lys789Gln)
n.1315A>C
c.2482A>C (p.Lys828Gln)
c.3700A>C (p.Lys1234Gln)
c.2767A>C (p.Lys923Gln)
c.3871A>C (p.Lys1291Gln)
c.3718A>C (p.Lys1240Gln)
c.3682A>C (p.Lys1228Gln)
1g.236897110A>GCA345391977MTRc.3703A>G (p.Lys1235Glu)
n.4433A>G
c.3550A>G (p.Lys1184Glu)
c.*2745A>G (n.*2745A>G)
c.*2447A>G (n.*2447A>G)
c.3355A>G (p.Lys1119Glu)
n.6830A>G
c.3514A>G (p.Lys1172Glu)
n.6960A>G
c.3523A>G (p.Lys1175Glu)
c.3265A>G (p.Lys1089Glu)
n.3897A>G
c.2365A>G (p.Lys789Glu)
n.1315A>G
c.2482A>G (p.Lys828Glu)
c.3700A>G (p.Lys1234Glu)
c.2767A>G (p.Lys923Glu)
c.3871A>G (p.Lys1291Glu)
c.3718A>G (p.Lys1240Glu)
c.3682A>G (p.Lys1228Glu)
1g.236897110A>TCA345391978MTRc.3703A>T (p.Lys1235Ter)
n.4433A>T
c.3550A>T (p.Lys1184Ter)
c.*2745A>T (n.*2745A>T)
c.*2447A>T (n.*2447A>T)
c.3355A>T (p.Lys1119Ter)
n.6830A>T
c.3514A>T (p.Lys1172Ter)
n.6960A>T
c.3523A>T (p.Lys1175Ter)
c.3265A>T (p.Lys1089Ter)
n.3897A>T
c.2365A>T (p.Lys789Ter)
n.1315A>T
c.2482A>T (p.Lys828Ter)
c.3700A>T (p.Lys1234Ter)
c.2767A>T (p.Lys923Ter)
c.3871A>T (p.Lys1291Ter)
c.3718A>T (p.Lys1240Ter)
c.3682A>T (p.Lys1228Ter)
1g.236897111A=CA2487108672MTRc.3704A= (p.Lys1235=)
n.4434A=
c.3551A= (p.Lys1184=)
c.*2746A= (n.*2746A=)
c.*2448A= (n.*2448A=)
c.3356A= (p.Lys1119=)
n.6831A=
c.3515A= (p.Lys1172=)
n.6961A=
c.3524A= (p.Lys1175=)
c.3266A= (p.Lys1089=)
n.3898A=
c.2366A= (p.Lys789=)
n.1316A=
c.2483A= (p.Lys828=)
c.3701A= (p.Lys1234=)
c.2768A= (p.Lys923=)
c.3872A= (p.Lys1291=)
c.3719A= (p.Lys1240=)
c.3683A= (p.Lys1228=)
1g.236897111A>CCA345391981MTRc.3704A>C (p.Lys1235Thr)
n.4434A>C
c.3551A>C (p.Lys1184Thr)
c.*2746A>C (n.*2746A>C)
c.*2448A>C (n.*2448A>C)
c.3356A>C (p.Lys1119Thr)
n.6831A>C
c.3515A>C (p.Lys1172Thr)
n.6961A>C
c.3524A>C (p.Lys1175Thr)
c.3266A>C (p.Lys1089Thr)
n.3898A>C
c.2366A>C (p.Lys789Thr)
n.1316A>C
c.2483A>C (p.Lys828Thr)
c.3701A>C (p.Lys1234Thr)
c.2768A>C (p.Lys923Thr)
c.3872A>C (p.Lys1291Thr)
c.3719A>C (p.Lys1240Thr)
c.3683A>C (p.Lys1228Thr)
 dbSNP
1g.236897111A>GCA1474767MTRc.3704A>G (p.Lys1235Arg)
n.4434A>G
c.3551A>G (p.Lys1184Arg)
c.*2746A>G (n.*2746A>G)
c.*2448A>G (n.*2448A>G)
c.3356A>G (p.Lys1119Arg)
n.6831A>G
c.3515A>G (p.Lys1172Arg)
n.6961A>G
c.3524A>G (p.Lys1175Arg)
c.3266A>G (p.Lys1089Arg)
n.3898A>G
c.2366A>G (p.Lys789Arg)
n.1316A>G
c.2483A>G (p.Lys828Arg)
c.3701A>G (p.Lys1234Arg)
c.2768A>G (p.Lys923Arg)
c.3872A>G (p.Lys1291Arg)
c.3719A>G (p.Lys1240Arg)
c.3683A>G (p.Lys1228Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.236897111A>TCA345391980MTRc.3704A>T (p.Lys1235Met)
n.4434A>T
c.3551A>T (p.Lys1184Met)
c.*2746A>T (n.*2746A>T)
c.*2448A>T (n.*2448A>T)
c.3356A>T (p.Lys1119Met)
n.6831A>T
c.3515A>T (p.Lys1172Met)
n.6961A>T
c.3524A>T (p.Lys1175Met)
c.3266A>T (p.Lys1089Met)
n.3898A>T
c.2366A>T (p.Lys789Met)
n.1316A>T
c.2483A>T (p.Lys828Met)
c.3701A>T (p.Lys1234Met)
c.2768A>T (p.Lys923Met)
c.3872A>T (p.Lys1291Met)
c.3719A>T (p.Lys1240Met)
c.3683A>T (p.Lys1228Met)
1g.236897112G>ACA423817947MTRc.3705G>A (p.Lys1235=)
n.4435G>A
c.3552G>A (p.Lys1184=)
c.*2747G>A (n.*2747G>A)
c.*2449G>A (n.*2449G>A)
c.3357G>A (p.Lys1119=)
n.6832G>A
c.3516G>A (p.Lys1172=)
n.6962G>A
c.3525G>A (p.Lys1175=)
c.3267G>A (p.Lys1089=)
n.3899G>A
c.2367G>A (p.Lys789=)
n.1317G>A
c.2484G>A (p.Lys828=)
c.3702G>A (p.Lys1234=)
c.2769G>A (p.Lys923=)
c.3873G>A (p.Lys1291=)
c.3720G>A (p.Lys1240=)
c.3684G>A (p.Lys1228=)
1g.236897112G>CCA345391983MTRc.3705G>C (p.Lys1235Asn)
n.4435G>C
c.3552G>C (p.Lys1184Asn)
c.*2747G>C (n.*2747G>C)
c.*2449G>C (n.*2449G>C)
c.3357G>C (p.Lys1119Asn)
n.6832G>C
c.3516G>C (p.Lys1172Asn)
n.6962G>C
c.3525G>C (p.Lys1175Asn)
c.3267G>C (p.Lys1089Asn)
n.3899G>C
c.2367G>C (p.Lys789Asn)
n.1317G>C
c.2484G>C (p.Lys828Asn)
c.3702G>C (p.Lys1234Asn)
c.2769G>C (p.Lys923Asn)
c.3873G>C (p.Lys1291Asn)
c.3720G>C (p.Lys1240Asn)
c.3684G>C (p.Lys1228Asn)
1g.236897112G>TCA345391985MTRc.3705G>T (p.Lys1235Asn)
n.4435G>T
c.3552G>T (p.Lys1184Asn)
c.*2747G>T (n.*2747G>T)
c.*2449G>T (n.*2449G>T)
c.3357G>T (p.Lys1119Asn)
n.6832G>T
c.3516G>T (p.Lys1172Asn)
n.6962G>T
c.3525G>T (p.Lys1175Asn)
c.3267G>T (p.Lys1089Asn)
n.3899G>T
c.2367G>T (p.Lys789Asn)
n.1317G>T
c.2484G>T (p.Lys828Asn)
c.3702G>T (p.Lys1234Asn)
c.2769G>T (p.Lys923Asn)
c.3873G>T (p.Lys1291Asn)
c.3720G>T (p.Lys1240Asn)
c.3684G>T (p.Lys1228Asn)
1g.236897113G>ACA345391991MTRc.3706G>A (p.Asp1236Asn)
n.4436G>A
c.3553G>A (p.Asp1185Asn)
c.*2748G>A (n.*2748G>A)
c.*2450G>A (n.*2450G>A)
c.3358G>A (p.Asp1120Asn)
n.6833G>A
c.3517G>A (p.Asp1173Asn)
n.6963G>A
c.3526G>A (p.Asp1176Asn)
c.3268G>A (p.Asp1090Asn)
n.3900G>A
c.2368G>A (p.Asp790Asn)
n.1318G>A
c.2485G>A (p.Asp829Asn)
c.3703G>A (p.Asp1235Asn)
c.2770G>A (p.Asp924Asn)
c.3874G>A (p.Asp1292Asn)
c.3721G>A (p.Asp1241Asn)
c.3685G>A (p.Asp1229Asn)
1g.236897113G>CCA345391992MTRc.3706G>C (p.Asp1236His)
n.4436G>C
c.3553G>C (p.Asp1185His)
c.*2748G>C (n.*2748G>C)
c.*2450G>C (n.*2450G>C)
c.3358G>C (p.Asp1120His)
n.6833G>C
c.3517G>C (p.Asp1173His)
n.6963G>C
c.3526G>C (p.Asp1176His)
c.3268G>C (p.Asp1090His)
n.3900G>C
c.2368G>C (p.Asp790His)
n.1318G>C
c.2485G>C (p.Asp829His)
c.3703G>C (p.Asp1235His)
c.2770G>C (p.Asp924His)
c.3874G>C (p.Asp1292His)
c.3721G>C (p.Asp1241His)
c.3685G>C (p.Asp1229His)
 COSMIC
1g.236897113G>TCA345391993MTRc.3706G>T (p.Asp1236Tyr)
n.4436G>T
c.3553G>T (p.Asp1185Tyr)
c.*2748G>T (n.*2748G>T)
c.*2450G>T (n.*2450G>T)
c.3358G>T (p.Asp1120Tyr)
n.6833G>T
c.3517G>T (p.Asp1173Tyr)
n.6963G>T
c.3526G>T (p.Asp1176Tyr)
c.3268G>T (p.Asp1090Tyr)
n.3900G>T
c.2368G>T (p.Asp790Tyr)
n.1318G>T
c.2485G>T (p.Asp829Tyr)
c.3703G>T (p.Asp1235Tyr)
c.2770G>T (p.Asp924Tyr)
c.3874G>T (p.Asp1292Tyr)
c.3721G>T (p.Asp1241Tyr)
c.3685G>T (p.Asp1229Tyr)
1g.236897114A>CCA345392002MTRc.3707A>C (p.Asp1236Ala)
n.4437A>C
c.3554A>C (p.Asp1185Ala)
c.*2749A>C (n.*2749A>C)
c.*2451A>C (n.*2451A>C)
c.3359A>C (p.Asp1120Ala)
n.6834A>C
c.3518A>C (p.Asp1173Ala)
n.6964A>C
c.3527A>C (p.Asp1176Ala)
c.3269A>C (p.Asp1090Ala)
n.3901A>C
c.2369A>C (p.Asp790Ala)
n.1319A>C
c.2486A>C (p.Asp829Ala)
c.3704A>C (p.Asp1235Ala)
c.2771A>C (p.Asp924Ala)
c.3875A>C (p.Asp1292Ala)
c.3722A>C (p.Asp1241Ala)
c.3686A>C (p.Asp1229Ala)
1g.236897114A>GCA345391997MTRc.3707A>G (p.Asp1236Gly)
n.4437A>G
c.3554A>G (p.Asp1185Gly)
c.*2749A>G (n.*2749A>G)
c.*2451A>G (n.*2451A>G)
c.3359A>G (p.Asp1120Gly)
n.6834A>G
c.3518A>G (p.Asp1173Gly)
n.6964A>G
c.3527A>G (p.Asp1176Gly)
c.3269A>G (p.Asp1090Gly)
n.3901A>G
c.2369A>G (p.Asp790Gly)
n.1319A>G
c.2486A>G (p.Asp829Gly)
c.3704A>G (p.Asp1235Gly)
c.2771A>G (p.Asp924Gly)
c.3875A>G (p.Asp1292Gly)
c.3722A>G (p.Asp1241Gly)
c.3686A>G (p.Asp1229Gly)
1g.236897114A>TCA345391995MTRc.3707A>T (p.Asp1236Val)
n.4437A>T
c.3554A>T (p.Asp1185Val)
c.*2749A>T (n.*2749A>T)
c.*2451A>T (n.*2451A>T)
c.3359A>T (p.Asp1120Val)
n.6834A>T
c.3518A>T (p.Asp1173Val)
n.6964A>T
c.3527A>T (p.Asp1176Val)
c.3269A>T (p.Asp1090Val)
n.3901A>T
c.2369A>T (p.Asp790Val)
n.1319A>T
c.2486A>T (p.Asp829Val)
c.3704A>T (p.Asp1235Val)
c.2771A>T (p.Asp924Val)
c.3875A>T (p.Asp1292Val)
c.3722A>T (p.Asp1241Val)
c.3686A>T (p.Asp1229Val)
 gnomAD v4
1g.236897115T>ACA345392004MTRc.3708T>A (p.Asp1236Glu)
n.4438T>A
c.3555T>A (p.Asp1185Glu)
c.*2750T>A (n.*2750T>A)
c.*2452T>A (n.*2452T>A)
c.3360T>A (p.Asp1120Glu)
n.6835T>A
c.3519T>A (p.Asp1173Glu)
n.6965T>A
c.3528T>A (p.Asp1176Glu)
c.3270T>A (p.Asp1090Glu)
n.3902T>A
c.2370T>A (p.Asp790Glu)
n.1320T>A
c.2487T>A (p.Asp829Glu)
c.3705T>A (p.Asp1235Glu)
c.2772T>A (p.Asp924Glu)
c.3876T>A (p.Asp1292Glu)
c.3723T>A (p.Asp1241Glu)
c.3687T>A (p.Asp1229Glu)
 dbSNP
1g.236897115T>CCA423817948MTRc.3708T>C (p.Asp1236=)
n.4438T>C
c.3555T>C (p.Asp1185=)
c.*2750T>C (n.*2750T>C)
c.*2452T>C (n.*2452T>C)
c.3360T>C (p.Asp1120=)
n.6835T>C
c.3519T>C (p.Asp1173=)
n.6965T>C
c.3528T>C (p.Asp1176=)
c.3270T>C (p.Asp1090=)
n.3902T>C
c.2370T>C (p.Asp790=)
n.1320T>C
c.2487T>C (p.Asp829=)
c.3705T>C (p.Asp1235=)
c.2772T>C (p.Asp924=)
c.3876T>C (p.Asp1292=)
c.3723T>C (p.Asp1241=)
c.3687T>C (p.Asp1229=)
1g.236897115T>GCA345392006MTRc.3708T>G (p.Asp1236Glu)
n.4438T>G
c.3555T>G (p.Asp1185Glu)
c.*2750T>G (n.*2750T>G)
c.*2452T>G (n.*2452T>G)
c.3360T>G (p.Asp1120Glu)
n.6835T>G
c.3519T>G (p.Asp1173Glu)
n.6965T>G
c.3528T>G (p.Asp1176Glu)
c.3270T>G (p.Asp1090Glu)
n.3902T>G
c.2370T>G (p.Asp790Glu)
n.1320T>G
c.2487T>G (p.Asp829Glu)
c.3705T>G (p.Asp1235Glu)
c.2772T>G (p.Asp924Glu)
c.3876T>G (p.Asp1292Glu)
c.3723T>G (p.Asp1241Glu)
c.3687T>G (p.Asp1229Glu)
1g.236897115T=CA2487108673MTRc.3708T= (p.Asp1236=)
n.4438T=
c.3555T= (p.Asp1185=)
c.*2750T= (n.*2750T=)
c.*2452T= (n.*2452T=)
c.3360T= (p.Asp1120=)
n.6835T=
c.3519T= (p.Asp1173=)
n.6965T=
c.3528T= (p.Asp1176=)
c.3270T= (p.Asp1090=)
n.3902T=
c.2370T= (p.Asp790=)
n.1320T=
c.2487T= (p.Asp829=)
c.3705T= (p.Asp1235=)
c.2772T= (p.Asp924=)
c.3876T= (p.Asp1292=)
c.3723T= (p.Asp1241=)
c.3687T= (p.Asp1229=)
1g.236897116C>ACA345392008MTRc.3709C>A (p.Gln1237Lys)
n.4439C>A
c.3556C>A (p.Gln1186Lys)
c.*2751C>A (n.*2751C>A)
c.*2453C>A (n.*2453C>A)
c.3361C>A (p.Gln1121Lys)
n.6836C>A
c.3520C>A (p.Gln1174Lys)
n.6966C>A
c.3529C>A (p.Gln1177Lys)
c.3271C>A (p.Gln1091Lys)
n.3903C>A
c.2371C>A (p.Gln791Lys)
n.1321C>A
c.2488C>A (p.Gln830Lys)
c.3706C>A (p.Gln1236Lys)
c.2773C>A (p.Gln925Lys)
c.3877C>A (p.Gln1293Lys)
c.3724C>A (p.Gln1242Lys)
c.3688C>A (p.Gln1230Lys)
 gnomAD v4
1g.236897116C>GCA345392011MTRc.3709C>G (p.Gln1237Glu)
n.4439C>G
c.3556C>G (p.Gln1186Glu)
c.*2751C>G (n.*2751C>G)
c.*2453C>G (n.*2453C>G)
c.3361C>G (p.Gln1121Glu)
n.6836C>G
c.3520C>G (p.Gln1174Glu)
n.6966C>G
c.3529C>G (p.Gln1177Glu)
c.3271C>G (p.Gln1091Glu)
n.3903C>G
c.2371C>G (p.Gln791Glu)
n.1321C>G
c.2488C>G (p.Gln830Glu)
c.3706C>G (p.Gln1236Glu)
c.2773C>G (p.Gln925Glu)
c.3877C>G (p.Gln1293Glu)
c.3724C>G (p.Gln1242Glu)
c.3688C>G (p.Gln1230Glu)
1g.236897116C>TCA345392009MTRc.3709C>T (p.Gln1237Ter)
n.4439C>T
c.3556C>T (p.Gln1186Ter)
c.*2751C>T (n.*2751C>T)
c.*2453C>T (n.*2453C>T)
c.3361C>T (p.Gln1121Ter)
n.6836C>T
c.3520C>T (p.Gln1174Ter)
n.6966C>T
c.3529C>T (p.Gln1177Ter)
c.3271C>T (p.Gln1091Ter)
n.3903C>T
c.2371C>T (p.Gln791Ter)
n.1321C>T
c.2488C>T (p.Gln830Ter)
c.3706C>T (p.Gln1236Ter)
c.2773C>T (p.Gln925Ter)
c.3877C>T (p.Gln1293Ter)
c.3724C>T (p.Gln1242Ter)
c.3688C>T (p.Gln1230Ter)
1g.236897117A>CCA345392012MTRc.3710A>C (p.Gln1237Pro)
n.4440A>C
c.3557A>C (p.Gln1186Pro)
c.*2752A>C (n.*2752A>C)
c.*2454A>C (n.*2454A>C)
c.3362A>C (p.Gln1121Pro)
n.6837A>C
c.3521A>C (p.Gln1174Pro)
n.6967A>C
c.3530A>C (p.Gln1177Pro)
c.3272A>C (p.Gln1091Pro)
n.3904A>C
c.2372A>C (p.Gln791Pro)
n.1322A>C
c.2489A>C (p.Gln830Pro)
c.3707A>C (p.Gln1236Pro)
c.2774A>C (p.Gln925Pro)
c.3878A>C (p.Gln1293Pro)
c.3725A>C (p.Gln1242Pro)
c.3689A>C (p.Gln1230Pro)
1g.236897117A>GCA345392014MTRc.3710A>G (p.Gln1237Arg)
n.4440A>G
c.3557A>G (p.Gln1186Arg)
c.*2752A>G (n.*2752A>G)
c.*2454A>G (n.*2454A>G)
c.3362A>G (p.Gln1121Arg)
n.6837A>G
c.3521A>G (p.Gln1174Arg)
n.6967A>G
c.3530A>G (p.Gln1177Arg)
c.3272A>G (p.Gln1091Arg)
n.3904A>G
c.2372A>G (p.Gln791Arg)
n.1322A>G
c.2489A>G (p.Gln830Arg)
c.3707A>G (p.Gln1236Arg)
c.2774A>G (p.Gln925Arg)
c.3878A>G (p.Gln1293Arg)
c.3725A>G (p.Gln1242Arg)
c.3689A>G (p.Gln1230Arg)
 COSMIC
1g.236897117A>TCA345392015MTRc.3710A>T (p.Gln1237Leu)
n.4440A>T
c.3557A>T (p.Gln1186Leu)
c.*2752A>T (n.*2752A>T)
c.*2454A>T (n.*2454A>T)
c.3362A>T (p.Gln1121Leu)
n.6837A>T
c.3521A>T (p.Gln1174Leu)
n.6967A>T
c.3530A>T (p.Gln1177Leu)
c.3272A>T (p.Gln1091Leu)
n.3904A>T
c.2372A>T (p.Gln791Leu)
n.1322A>T
c.2489A>T (p.Gln830Leu)
c.3707A>T (p.Gln1236Leu)
c.2774A>T (p.Gln925Leu)
c.3878A>T (p.Gln1293Leu)
c.3725A>T (p.Gln1242Leu)
c.3689A>T (p.Gln1230Leu)
1g.236897118G>ACA423817949MTRc.3711G>A (p.Gln1237=)
n.4441G>A
c.3558G>A (p.Gln1186=)
c.*2753G>A (n.*2753G>A)
c.*2455G>A (n.*2455G>A)
c.3363G>A (p.Gln1121=)
n.6838G>A
c.3522G>A (p.Gln1174=)
n.6968G>A
c.3531G>A (p.Gln1177=)
c.3273G>A (p.Gln1091=)
n.3905G>A
c.2373G>A (p.Gln791=)
n.1323G>A
c.2490G>A (p.Gln830=)
c.3708G>A (p.Gln1236=)
c.2775G>A (p.Gln925=)
c.3879G>A (p.Gln1293=)
c.3726G>A (p.Gln1242=)
c.3690G>A (p.Gln1230=)
1g.236897118G>CCA345392017MTRc.3711G>C (p.Gln1237His)
n.4441G>C
c.3558G>C (p.Gln1186His)
c.*2753G>C (n.*2753G>C)
c.*2455G>C (n.*2455G>C)
c.3363G>C (p.Gln1121His)
n.6838G>C
c.3522G>C (p.Gln1174His)
n.6968G>C
c.3531G>C (p.Gln1177His)
c.3273G>C (p.Gln1091His)
n.3905G>C
c.2373G>C (p.Gln791His)
n.1323G>C
c.2490G>C (p.Gln830His)
c.3708G>C (p.Gln1236His)
c.2775G>C (p.Gln925His)
c.3879G>C (p.Gln1293His)
c.3726G>C (p.Gln1242His)
c.3690G>C (p.Gln1230His)
 dbSNP
1g.236897118G=CA2487108674MTRc.3711G= (p.Gln1237=)
n.4441G=
c.3558G= (p.Gln1186=)
c.*2753G= (n.*2753G=)
c.*2455G= (n.*2455G=)
c.3363G= (p.Gln1121=)
n.6838G=
c.3522G= (p.Gln1174=)
n.6968G=
c.3531G= (p.Gln1177=)
c.3273G= (p.Gln1091=)
n.3905G=
c.2373G= (p.Gln791=)
n.1323G=
c.2490G= (p.Gln830=)
c.3708G= (p.Gln1236=)
c.2775G= (p.Gln925=)
c.3879G= (p.Gln1293=)
c.3726G= (p.Gln1242=)
c.3690G= (p.Gln1230=)
1g.236897118G>TCA345392020MTRc.3711G>T (p.Gln1237His)
n.4441G>T
c.3558G>T (p.Gln1186His)
c.*2753G>T (n.*2753G>T)
c.*2455G>T (n.*2455G>T)
c.3363G>T (p.Gln1121His)
n.6838G>T
c.3522G>T (p.Gln1174His)
n.6968G>T
c.3531G>T (p.Gln1177His)
c.3273G>T (p.Gln1091His)
n.3905G>T
c.2373G>T (p.Gln791His)
n.1323G>T
c.2490G>T (p.Gln830His)
c.3708G>T (p.Gln1236His)
c.2775G>T (p.Gln925His)
c.3879G>T (p.Gln1293His)
c.3726G>T (p.Gln1242His)
c.3690G>T (p.Gln1230His)
 gnomAD v4
1g.236897119G>ACA345392021MTRc.3711+1G>A (n.3711+1G>A)
n.4441+1G>A
c.3558+1G>A (n.3558+1G>A)
c.*2753+1G>A (n.*2753+1G>A)
c.*2455+1G>A (n.*2455+1G>A)
c.3363+1G>A (n.3363+1G>A)
n.6838+1G>A
c.3522+1G>A (n.3522+1G>A)
n.6968+1G>A
c.3531+1G>A (n.3531+1G>A)
c.3273+1G>A (n.3273+1G>A)
n.3905+1G>A
c.2373+1G>A (n.2373+1G>A)
n.1323+1G>A
c.2490+1G>A (n.2490+1G>A)
c.3708+1G>A (n.3708+1G>A)
c.2775+1G>A (n.2775+1G>A)
c.3879+1G>A (n.3879+1G>A)
c.3726+1G>A (n.3726+1G>A)
c.3690+1G>A (n.3690+1G>A)
 gnomAD v4
1g.236897119G>CCA345392024MTRc.3711+1G>C (n.3711+1G>C)
n.4441+1G>C
c.3558+1G>C (n.3558+1G>C)
c.*2753+1G>C (n.*2753+1G>C)
c.*2455+1G>C (n.*2455+1G>C)
c.3363+1G>C (n.3363+1G>C)
n.6838+1G>C
c.3522+1G>C (n.3522+1G>C)
n.6968+1G>C
c.3531+1G>C (n.3531+1G>C)
c.3273+1G>C (n.3273+1G>C)
n.3905+1G>C
c.2373+1G>C (n.2373+1G>C)
n.1323+1G>C
c.2490+1G>C (n.2490+1G>C)
c.3708+1G>C (n.3708+1G>C)
c.2775+1G>C (n.2775+1G>C)
c.3879+1G>C (n.3879+1G>C)
c.3726+1G>C (n.3726+1G>C)
c.3690+1G>C (n.3690+1G>C)
1g.236897119G>TCA345392026MTRc.3711+1G>T (n.3711+1G>T)
n.4441+1G>T
c.3558+1G>T (n.3558+1G>T)
c.*2753+1G>T (n.*2753+1G>T)
c.*2455+1G>T (n.*2455+1G>T)
c.3363+1G>T (n.3363+1G>T)
n.6838+1G>T
c.3522+1G>T (n.3522+1G>T)
n.6968+1G>T
c.3531+1G>T (n.3531+1G>T)
c.3273+1G>T (n.3273+1G>T)
n.3905+1G>T
c.2373+1G>T (n.2373+1G>T)
n.1323+1G>T
c.2490+1G>T (n.2490+1G>T)
c.3708+1G>T (n.3708+1G>T)
c.2775+1G>T (n.2775+1G>T)
c.3879+1G>T (n.3879+1G>T)
c.3726+1G>T (n.3726+1G>T)
c.3690+1G>T (n.3690+1G>T)
1g.236897120T>ACA345392028MTRc.3711+2T>A (n.3711+2T>A)
n.4441+2T>A
c.3558+2T>A (n.3558+2T>A)
c.*2753+2T>A (n.*2753+2T>A)
c.*2455+2T>A (n.*2455+2T>A)
c.3363+2T>A (n.3363+2T>A)
n.6838+2T>A
c.3522+2T>A (n.3522+2T>A)
n.6968+2T>A
c.3531+2T>A (n.3531+2T>A)
c.3273+2T>A (n.3273+2T>A)
n.3905+2T>A
c.2373+2T>A (n.2373+2T>A)
n.1323+2T>A
c.2490+2T>A (n.2490+2T>A)
c.3708+2T>A (n.3708+2T>A)
c.2775+2T>A (n.2775+2T>A)
c.3879+2T>A (n.3879+2T>A)
c.3726+2T>A (n.3726+2T>A)
c.3690+2T>A (n.3690+2T>A)
1g.236897120T>CCA345392030MTRc.3711+2T>C (n.3711+2T>C)
n.4441+2T>C
c.3558+2T>C (n.3558+2T>C)
c.*2753+2T>C (n.*2753+2T>C)
c.*2455+2T>C (n.*2455+2T>C)
c.3363+2T>C (n.3363+2T>C)
n.6838+2T>C
c.3522+2T>C (n.3522+2T>C)
n.6968+2T>C
c.3531+2T>C (n.3531+2T>C)
c.3273+2T>C (n.3273+2T>C)
n.3905+2T>C
c.2373+2T>C (n.2373+2T>C)
n.1323+2T>C
c.2490+2T>C (n.2490+2T>C)
c.3708+2T>C (n.3708+2T>C)
c.2775+2T>C (n.2775+2T>C)
c.3879+2T>C (n.3879+2T>C)
c.3726+2T>C (n.3726+2T>C)
c.3690+2T>C (n.3690+2T>C)
1g.236897120T>GCA345392032MTRc.3711+2T>G (n.3711+2T>G)
n.4441+2T>G
c.3558+2T>G (n.3558+2T>G)
c.*2753+2T>G (n.*2753+2T>G)
c.*2455+2T>G (n.*2455+2T>G)
c.3363+2T>G (n.3363+2T>G)
n.6838+2T>G
c.3522+2T>G (n.3522+2T>G)
n.6968+2T>G
c.3531+2T>G (n.3531+2T>G)
c.3273+2T>G (n.3273+2T>G)
n.3905+2T>G
c.2373+2T>G (n.2373+2T>G)
n.1323+2T>G
c.2490+2T>G (n.2490+2T>G)
c.3708+2T>G (n.3708+2T>G)
c.2775+2T>G (n.2775+2T>G)
c.3879+2T>G (n.3879+2T>G)
c.3726+2T>G (n.3726+2T>G)
c.3690+2T>G (n.3690+2T>G)

Number of alleles fetched