Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9475720T>ACA351693091SETD5n.2913T>A
c.4054T>A (p.Tyr1352Asn)
n.4947T>A
n.2338T>A
n.6200T>A
c.3958T>A (p.Tyr1320Asn)
c.*4104T>A (n.*4104T>A)
c.*4027T>A (n.*4027T>A)
c.*4332T>A (n.*4332T>A)
c.*4063T>A (n.*4063T>A)
c.3664T>A (p.Tyr1222Asn)
c.2722+564T>A
c.4015T>A (p.Tyr1339Asn)
c.2994T>A
n.3299T>A
n.4122T>A
c.4132T>A (p.Tyr1378Asn)
c.4111T>A (p.Tyr1371Asn)
c.4093T>A (p.Tyr1365Asn)
c.4075T>A (p.Tyr1359Asn)
c.4036T>A (p.Tyr1346Asn)
c.3997T>A (p.Tyr1333Asn)
c.3721T>A (p.Tyr1241Asn)
c.3682T>A (p.Tyr1228Asn)
c.4072T>A (p.Tyr1358Asn)
c.3979T>A (p.Tyr1327Asn)
c.3454T>A (p.Tyr1152Asn)
c.3769T>A (p.Tyr1257Asn)
n.8341T>A
3g.9475720T>CCA2239841SETD5n.2913T>C
c.4054T>C (p.Tyr1352His)
n.4947T>C
n.2338T>C
n.6200T>C
c.3958T>C (p.Tyr1320His)
c.*4104T>C (n.*4104T>C)
c.*4027T>C (n.*4027T>C)
c.*4332T>C (n.*4332T>C)
c.*4063T>C (n.*4063T>C)
c.3664T>C (p.Tyr1222His)
c.2722+564T>C
c.4015T>C (p.Tyr1339His)
c.2994T>C
n.3299T>C
n.4122T>C
c.4132T>C (p.Tyr1378His)
c.4111T>C (p.Tyr1371His)
c.4093T>C (p.Tyr1365His)
c.4075T>C (p.Tyr1359His)
c.4036T>C (p.Tyr1346His)
c.3997T>C (p.Tyr1333His)
c.3721T>C (p.Tyr1241His)
c.3682T>C (p.Tyr1228His)
c.4072T>C (p.Tyr1358His)
c.3979T>C (p.Tyr1327His)
c.3454T>C (p.Tyr1152His)
c.3769T>C (p.Tyr1257His)
n.8341T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475720T>GCA351693074SETD5n.2913T>G
c.4054T>G (p.Tyr1352Asp)
n.4947T>G
n.2338T>G
n.6200T>G
c.3958T>G (p.Tyr1320Asp)
c.*4104T>G (n.*4104T>G)
c.*4027T>G (n.*4027T>G)
c.*4332T>G (n.*4332T>G)
c.*4063T>G (n.*4063T>G)
c.3664T>G (p.Tyr1222Asp)
c.2722+564T>G
c.4015T>G (p.Tyr1339Asp)
c.2994T>G
n.3299T>G
n.4122T>G
c.4132T>G (p.Tyr1378Asp)
c.4111T>G (p.Tyr1371Asp)
c.4093T>G (p.Tyr1365Asp)
c.4075T>G (p.Tyr1359Asp)
c.4036T>G (p.Tyr1346Asp)
c.3997T>G (p.Tyr1333Asp)
c.3721T>G (p.Tyr1241Asp)
c.3682T>G (p.Tyr1228Asp)
c.4072T>G (p.Tyr1358Asp)
c.3979T>G (p.Tyr1327Asp)
c.3454T>G (p.Tyr1152Asp)
c.3769T>G (p.Tyr1257Asp)
n.8341T>G
 dbSNP
3g.9475720T=CA1344742738SETD5n.2913T=
c.4054T= (p.Tyr1352=)
n.4947T=
n.2338T=
n.6200T=
c.3958T= (p.Tyr1320=)
c.*4104T= (n.*4104T=)
c.*4027T= (n.*4027T=)
c.*4332T= (n.*4332T=)
c.*4063T= (n.*4063T=)
c.3664T= (p.Tyr1222=)
c.2722+564T=
c.4015T= (p.Tyr1339=)
c.2994T=
n.3299T=
n.4122T=
c.4132T= (p.Tyr1378=)
c.4111T= (p.Tyr1371=)
c.4093T= (p.Tyr1365=)
c.4075T= (p.Tyr1359=)
c.4036T= (p.Tyr1346=)
c.3997T= (p.Tyr1333=)
c.3721T= (p.Tyr1241=)
c.3682T= (p.Tyr1228=)
c.4072T= (p.Tyr1358=)
c.3979T= (p.Tyr1327=)
c.3454T= (p.Tyr1152=)
c.3769T= (p.Tyr1257=)
n.8341T=
3g.9475721A=CA1344742744SETD5n.2914A=
c.4055A= (p.Tyr1352=)
n.4948A=
n.2339A=
n.6201A=
c.3959A= (p.Tyr1320=)
c.*4105A= (n.*4105A=)
c.*4028A= (n.*4028A=)
c.*4333A= (n.*4333A=)
c.*4064A= (n.*4064A=)
c.3665A= (p.Tyr1222=)
c.2722+565A=
c.4016A= (p.Tyr1339=)
c.2995A=
n.3300A=
n.4123A=
c.4133A= (p.Tyr1378=)
c.4112A= (p.Tyr1371=)
c.4094A= (p.Tyr1365=)
c.4076A= (p.Tyr1359=)
c.4037A= (p.Tyr1346=)
c.3998A= (p.Tyr1333=)
c.3722A= (p.Tyr1241=)
c.3683A= (p.Tyr1228=)
c.4073A= (p.Tyr1358=)
c.3980A= (p.Tyr1327=)
c.3455A= (p.Tyr1152=)
c.3770A= (p.Tyr1257=)
n.8342A=
3g.9475721A>CCA351693102SETD5n.2914A>C
c.4055A>C (p.Tyr1352Ser)
n.4948A>C
n.2339A>C
n.6201A>C
c.3959A>C (p.Tyr1320Ser)
c.*4105A>C (n.*4105A>C)
c.*4028A>C (n.*4028A>C)
c.*4333A>C (n.*4333A>C)
c.*4064A>C (n.*4064A>C)
c.3665A>C (p.Tyr1222Ser)
c.2722+565A>C
c.4016A>C (p.Tyr1339Ser)
c.2995A>C
n.3300A>C
n.4123A>C
c.4133A>C (p.Tyr1378Ser)
c.4112A>C (p.Tyr1371Ser)
c.4094A>C (p.Tyr1365Ser)
c.4076A>C (p.Tyr1359Ser)
c.4037A>C (p.Tyr1346Ser)
c.3998A>C (p.Tyr1333Ser)
c.3722A>C (p.Tyr1241Ser)
c.3683A>C (p.Tyr1228Ser)
c.4073A>C (p.Tyr1358Ser)
c.3980A>C (p.Tyr1327Ser)
c.3455A>C (p.Tyr1152Ser)
c.3770A>C (p.Tyr1257Ser)
n.8342A>C
3g.9475721A>GCA2239842SETD5n.2914A>G
c.4055A>G (p.Tyr1352Cys)
n.4948A>G
n.2339A>G
n.6201A>G
c.3959A>G (p.Tyr1320Cys)
c.*4105A>G (n.*4105A>G)
c.*4028A>G (n.*4028A>G)
c.*4333A>G (n.*4333A>G)
c.*4064A>G (n.*4064A>G)
c.3665A>G (p.Tyr1222Cys)
c.2722+565A>G
c.4016A>G (p.Tyr1339Cys)
c.2995A>G
n.3300A>G
n.4123A>G
c.4133A>G (p.Tyr1378Cys)
c.4112A>G (p.Tyr1371Cys)
c.4094A>G (p.Tyr1365Cys)
c.4076A>G (p.Tyr1359Cys)
c.4037A>G (p.Tyr1346Cys)
c.3998A>G (p.Tyr1333Cys)
c.3722A>G (p.Tyr1241Cys)
c.3683A>G (p.Tyr1228Cys)
c.4073A>G (p.Tyr1358Cys)
c.3980A>G (p.Tyr1327Cys)
c.3455A>G (p.Tyr1152Cys)
c.3770A>G (p.Tyr1257Cys)
n.8342A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475721A>TCA351693108SETD5n.2914A>T
c.4055A>T (p.Tyr1352Phe)
n.4948A>T
n.2339A>T
n.6201A>T
c.3959A>T (p.Tyr1320Phe)
c.*4105A>T (n.*4105A>T)
c.*4028A>T (n.*4028A>T)
c.*4333A>T (n.*4333A>T)
c.*4064A>T (n.*4064A>T)
c.3665A>T (p.Tyr1222Phe)
c.2722+565A>T
c.4016A>T (p.Tyr1339Phe)
c.2995A>T
n.3300A>T
n.4123A>T
c.4133A>T (p.Tyr1378Phe)
c.4112A>T (p.Tyr1371Phe)
c.4094A>T (p.Tyr1365Phe)
c.4076A>T (p.Tyr1359Phe)
c.4037A>T (p.Tyr1346Phe)
c.3998A>T (p.Tyr1333Phe)
c.3722A>T (p.Tyr1241Phe)
c.3683A>T (p.Tyr1228Phe)
c.4073A>T (p.Tyr1358Phe)
c.3980A>T (p.Tyr1327Phe)
c.3455A>T (p.Tyr1152Phe)
c.3770A>T (p.Tyr1257Phe)
n.8342A>T
3g.9475722T>ACA351693109SETD5n.2915T>A
c.4056T>A (p.Tyr1352Ter)
n.4949T>A
n.2340T>A
n.6202T>A
c.3960T>A (p.Tyr1320Ter)
c.*4106T>A (n.*4106T>A)
c.*4029T>A (n.*4029T>A)
c.*4334T>A (n.*4334T>A)
c.*4065T>A (n.*4065T>A)
c.3666T>A (p.Tyr1222Ter)
c.2722+566T>A
c.4017T>A (p.Tyr1339Ter)
c.2996T>A
n.3301T>A
n.4124T>A
c.4134T>A (p.Tyr1378Ter)
c.4113T>A (p.Tyr1371Ter)
c.4095T>A (p.Tyr1365Ter)
c.4077T>A (p.Tyr1359Ter)
c.4038T>A (p.Tyr1346Ter)
c.3999T>A (p.Tyr1333Ter)
c.3723T>A (p.Tyr1241Ter)
c.3684T>A (p.Tyr1228Ter)
c.4074T>A (p.Tyr1358Ter)
c.3981T>A (p.Tyr1327Ter)
c.3456T>A (p.Tyr1152Ter)
c.3771T>A (p.Tyr1257Ter)
n.8343T>A
3g.9475722T>CCA432528390SETD5n.2915T>C
c.4056T>C (p.Tyr1352=)
n.4949T>C
n.2340T>C
n.6202T>C
c.3960T>C (p.Tyr1320=)
c.*4106T>C (n.*4106T>C)
c.*4029T>C (n.*4029T>C)
c.*4334T>C (n.*4334T>C)
c.*4065T>C (n.*4065T>C)
c.3666T>C (p.Tyr1222=)
c.2722+566T>C
c.4017T>C (p.Tyr1339=)
c.2996T>C
n.3301T>C
n.4124T>C
c.4134T>C (p.Tyr1378=)
c.4113T>C (p.Tyr1371=)
c.4095T>C (p.Tyr1365=)
c.4077T>C (p.Tyr1359=)
c.4038T>C (p.Tyr1346=)
c.3999T>C (p.Tyr1333=)
c.3723T>C (p.Tyr1241=)
c.3684T>C (p.Tyr1228=)
c.4074T>C (p.Tyr1358=)
c.3981T>C (p.Tyr1327=)
c.3456T>C (p.Tyr1152=)
c.3771T>C (p.Tyr1257=)
n.8343T>C
3g.9475722T>GCA351693112SETD5n.2915T>G
c.4056T>G (p.Tyr1352Ter)
n.4949T>G
n.2340T>G
n.6202T>G
c.3960T>G (p.Tyr1320Ter)
c.*4106T>G (n.*4106T>G)
c.*4029T>G (n.*4029T>G)
c.*4334T>G (n.*4334T>G)
c.*4065T>G (n.*4065T>G)
c.3666T>G (p.Tyr1222Ter)
c.2722+566T>G
c.4017T>G (p.Tyr1339Ter)
c.2996T>G
n.3301T>G
n.4124T>G
c.4134T>G (p.Tyr1378Ter)
c.4113T>G (p.Tyr1371Ter)
c.4095T>G (p.Tyr1365Ter)
c.4077T>G (p.Tyr1359Ter)
c.4038T>G (p.Tyr1346Ter)
c.3999T>G (p.Tyr1333Ter)
c.3723T>G (p.Tyr1241Ter)
c.3684T>G (p.Tyr1228Ter)
c.4074T>G (p.Tyr1358Ter)
c.3981T>G (p.Tyr1327Ter)
c.3456T>G (p.Tyr1152Ter)
c.3771T>G (p.Tyr1257Ter)
n.8343T>G
3g.9475723T>ACA351693118SETD5n.2916T>A
c.4057T>A (p.Phe1353Ile)
n.4950T>A
n.2341T>A
n.6203T>A
c.3961T>A (p.Phe1321Ile)
c.*4107T>A (n.*4107T>A)
c.*4030T>A (n.*4030T>A)
c.*4335T>A (n.*4335T>A)
c.*4066T>A (n.*4066T>A)
c.3667T>A (p.Phe1223Ile)
c.2722+567T>A
c.4018T>A (p.Phe1340Ile)
c.2997T>A
n.3302T>A
n.4125T>A
c.4135T>A (p.Phe1379Ile)
c.4114T>A (p.Phe1372Ile)
c.4096T>A (p.Phe1366Ile)
c.4078T>A (p.Phe1360Ile)
c.4039T>A (p.Phe1347Ile)
c.4000T>A (p.Phe1334Ile)
c.3724T>A (p.Phe1242Ile)
c.3685T>A (p.Phe1229Ile)
c.4075T>A (p.Phe1359Ile)
c.3982T>A (p.Phe1328Ile)
c.3457T>A (p.Phe1153Ile)
c.3772T>A (p.Phe1258Ile)
n.8344T>A
 gnomAD v4
3g.9475723T>CCA351693126SETD5n.2916T>C
c.4057T>C (p.Phe1353Leu)
n.4950T>C
n.2341T>C
n.6203T>C
c.3961T>C (p.Phe1321Leu)
c.*4107T>C (n.*4107T>C)
c.*4030T>C (n.*4030T>C)
c.*4335T>C (n.*4335T>C)
c.*4066T>C (n.*4066T>C)
c.3667T>C (p.Phe1223Leu)
c.2722+567T>C
c.4018T>C (p.Phe1340Leu)
c.2997T>C
n.3302T>C
n.4125T>C
c.4135T>C (p.Phe1379Leu)
c.4114T>C (p.Phe1372Leu)
c.4096T>C (p.Phe1366Leu)
c.4078T>C (p.Phe1360Leu)
c.4039T>C (p.Phe1347Leu)
c.4000T>C (p.Phe1334Leu)
c.3724T>C (p.Phe1242Leu)
c.3685T>C (p.Phe1229Leu)
c.4075T>C (p.Phe1359Leu)
c.3982T>C (p.Phe1328Leu)
c.3457T>C (p.Phe1153Leu)
c.3772T>C (p.Phe1258Leu)
n.8344T>C
3g.9475723T>GCA351693134SETD5n.2916T>G
c.4057T>G (p.Phe1353Val)
n.4950T>G
n.2341T>G
n.6203T>G
c.3961T>G (p.Phe1321Val)
c.*4107T>G (n.*4107T>G)
c.*4030T>G (n.*4030T>G)
c.*4335T>G (n.*4335T>G)
c.*4066T>G (n.*4066T>G)
c.3667T>G (p.Phe1223Val)
c.2722+567T>G
c.4018T>G (p.Phe1340Val)
c.2997T>G
n.3302T>G
n.4125T>G
c.4135T>G (p.Phe1379Val)
c.4114T>G (p.Phe1372Val)
c.4096T>G (p.Phe1366Val)
c.4078T>G (p.Phe1360Val)
c.4039T>G (p.Phe1347Val)
c.4000T>G (p.Phe1334Val)
c.3724T>G (p.Phe1242Val)
c.3685T>G (p.Phe1229Val)
c.4075T>G (p.Phe1359Val)
c.3982T>G (p.Phe1328Val)
c.3457T>G (p.Phe1153Val)
c.3772T>G (p.Phe1258Val)
n.8344T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475723T=CA1344742749SETD5n.2916T=
c.4057T= (p.Phe1353=)
n.4950T=
n.2341T=
n.6203T=
c.3961T= (p.Phe1321=)
c.*4107T= (n.*4107T=)
c.*4030T= (n.*4030T=)
c.*4335T= (n.*4335T=)
c.*4066T= (n.*4066T=)
c.3667T= (p.Phe1223=)
c.2722+567T=
c.4018T= (p.Phe1340=)
c.2997T=
n.3302T=
n.4125T=
c.4135T= (p.Phe1379=)
c.4114T= (p.Phe1372=)
c.4096T= (p.Phe1366=)
c.4078T= (p.Phe1360=)
c.4039T= (p.Phe1347=)
c.4000T= (p.Phe1334=)
c.3724T= (p.Phe1242=)
c.3685T= (p.Phe1229=)
c.4075T= (p.Phe1359=)
c.3982T= (p.Phe1328=)
c.3457T= (p.Phe1153=)
c.3772T= (p.Phe1258=)
n.8344T=
3g.9475724T>ACA351693138SETD5n.2917T>A
c.4058T>A (p.Phe1353Tyr)
n.4951T>A
n.2342T>A
n.6204T>A
c.3962T>A (p.Phe1321Tyr)
c.*4108T>A (n.*4108T>A)
c.*4031T>A (n.*4031T>A)
c.*4336T>A (n.*4336T>A)
c.*4067T>A (n.*4067T>A)
c.3668T>A (p.Phe1223Tyr)
c.2722+568T>A
c.4019T>A (p.Phe1340Tyr)
c.2998T>A
n.3303T>A
n.4126T>A
c.4136T>A (p.Phe1379Tyr)
c.4115T>A (p.Phe1372Tyr)
c.4097T>A (p.Phe1366Tyr)
c.4079T>A (p.Phe1360Tyr)
c.4040T>A (p.Phe1347Tyr)
c.4001T>A (p.Phe1334Tyr)
c.3725T>A (p.Phe1242Tyr)
c.3686T>A (p.Phe1229Tyr)
c.4076T>A (p.Phe1359Tyr)
c.3983T>A (p.Phe1328Tyr)
c.3458T>A (p.Phe1153Tyr)
c.3773T>A (p.Phe1258Tyr)
n.8345T>A
3g.9475724T>CCA351693144SETD5n.2917T>C
c.4058T>C (p.Phe1353Ser)
n.4951T>C
n.2342T>C
n.6204T>C
c.3962T>C (p.Phe1321Ser)
c.*4108T>C (n.*4108T>C)
c.*4031T>C (n.*4031T>C)
c.*4336T>C (n.*4336T>C)
c.*4067T>C (n.*4067T>C)
c.3668T>C (p.Phe1223Ser)
c.2722+568T>C
c.4019T>C (p.Phe1340Ser)
c.2998T>C
n.3303T>C
n.4126T>C
c.4136T>C (p.Phe1379Ser)
c.4115T>C (p.Phe1372Ser)
c.4097T>C (p.Phe1366Ser)
c.4079T>C (p.Phe1360Ser)
c.4040T>C (p.Phe1347Ser)
c.4001T>C (p.Phe1334Ser)
c.3725T>C (p.Phe1242Ser)
c.3686T>C (p.Phe1229Ser)
c.4076T>C (p.Phe1359Ser)
c.3983T>C (p.Phe1328Ser)
c.3458T>C (p.Phe1153Ser)
c.3773T>C (p.Phe1258Ser)
n.8345T>C
3g.9475724T>GCA351693146SETD5n.2917T>G
c.4058T>G (p.Phe1353Cys)
n.4951T>G
n.2342T>G
n.6204T>G
c.3962T>G (p.Phe1321Cys)
c.*4108T>G (n.*4108T>G)
c.*4031T>G (n.*4031T>G)
c.*4336T>G (n.*4336T>G)
c.*4067T>G (n.*4067T>G)
c.3668T>G (p.Phe1223Cys)
c.2722+568T>G
c.4019T>G (p.Phe1340Cys)
c.2998T>G
n.3303T>G
n.4126T>G
c.4136T>G (p.Phe1379Cys)
c.4115T>G (p.Phe1372Cys)
c.4097T>G (p.Phe1366Cys)
c.4079T>G (p.Phe1360Cys)
c.4040T>G (p.Phe1347Cys)
c.4001T>G (p.Phe1334Cys)
c.3725T>G (p.Phe1242Cys)
c.3686T>G (p.Phe1229Cys)
c.4076T>G (p.Phe1359Cys)
c.3983T>G (p.Phe1328Cys)
c.3458T>G (p.Phe1153Cys)
c.3773T>G (p.Phe1258Cys)
n.8345T>G
3g.9475725T>ACA351693154SETD5n.2918T>A
c.4059T>A (p.Phe1353Leu)
n.4952T>A
n.2343T>A
n.6205T>A
c.3963T>A (p.Phe1321Leu)
c.*4109T>A (n.*4109T>A)
c.*4032T>A (n.*4032T>A)
c.*4337T>A (n.*4337T>A)
c.*4068T>A (n.*4068T>A)
c.3669T>A (p.Phe1223Leu)
c.2722+569T>A
c.4020T>A (p.Phe1340Leu)
c.2999T>A
n.3304T>A
n.4127T>A
c.4137T>A (p.Phe1379Leu)
c.4116T>A (p.Phe1372Leu)
c.4098T>A (p.Phe1366Leu)
c.4080T>A (p.Phe1360Leu)
c.4041T>A (p.Phe1347Leu)
c.4002T>A (p.Phe1334Leu)
c.3726T>A (p.Phe1242Leu)
c.3687T>A (p.Phe1229Leu)
c.4077T>A (p.Phe1359Leu)
c.3984T>A (p.Phe1328Leu)
c.3459T>A (p.Phe1153Leu)
c.3774T>A (p.Phe1258Leu)
n.8346T>A
3g.9475725T>CCA432528393SETD5n.2918T>C
c.4059T>C (p.Phe1353=)
n.4952T>C
n.2343T>C
n.6205T>C
c.3963T>C (p.Phe1321=)
c.*4109T>C (n.*4109T>C)
c.*4032T>C (n.*4032T>C)
c.*4337T>C (n.*4337T>C)
c.*4068T>C (n.*4068T>C)
c.3669T>C (p.Phe1223=)
c.2722+569T>C
c.4020T>C (p.Phe1340=)
c.2999T>C
n.3304T>C
n.4127T>C
c.4137T>C (p.Phe1379=)
c.4116T>C (p.Phe1372=)
c.4098T>C (p.Phe1366=)
c.4080T>C (p.Phe1360=)
c.4041T>C (p.Phe1347=)
c.4002T>C (p.Phe1334=)
c.3726T>C (p.Phe1242=)
c.3687T>C (p.Phe1229=)
c.4077T>C (p.Phe1359=)
c.3984T>C (p.Phe1328=)
c.3459T>C (p.Phe1153=)
c.3774T>C (p.Phe1258=)
n.8346T>C
3g.9475725T>GCA351693158SETD5n.2918T>G
c.4059T>G (p.Phe1353Leu)
n.4952T>G
n.2343T>G
n.6205T>G
c.3963T>G (p.Phe1321Leu)
c.*4109T>G (n.*4109T>G)
c.*4032T>G (n.*4032T>G)
c.*4337T>G (n.*4337T>G)
c.*4068T>G (n.*4068T>G)
c.3669T>G (p.Phe1223Leu)
c.2722+569T>G
c.4020T>G (p.Phe1340Leu)
c.2999T>G
n.3304T>G
n.4127T>G
c.4137T>G (p.Phe1379Leu)
c.4116T>G (p.Phe1372Leu)
c.4098T>G (p.Phe1366Leu)
c.4080T>G (p.Phe1360Leu)
c.4041T>G (p.Phe1347Leu)
c.4002T>G (p.Phe1334Leu)
c.3726T>G (p.Phe1242Leu)
c.3687T>G (p.Phe1229Leu)
c.4077T>G (p.Phe1359Leu)
c.3984T>G (p.Phe1328Leu)
c.3459T>G (p.Phe1153Leu)
c.3774T>G (p.Phe1258Leu)
n.8346T>G
3g.9475726A>CCA351693177SETD5n.2919A>C
c.4060A>C (p.Ser1354Arg)
n.4953A>C
n.2344A>C
n.6206A>C
c.3964A>C (p.Ser1322Arg)
c.*4110A>C (n.*4110A>C)
c.*4033A>C (n.*4033A>C)
c.*4338A>C (n.*4338A>C)
c.*4069A>C (n.*4069A>C)
c.3670A>C (p.Ser1224Arg)
c.2722+570A>C
c.4021A>C (p.Ser1341Arg)
c.3000A>C
n.3305A>C
n.4128A>C
c.4138A>C (p.Ser1380Arg)
c.4117A>C (p.Ser1373Arg)
c.4099A>C (p.Ser1367Arg)
c.4081A>C (p.Ser1361Arg)
c.4042A>C (p.Ser1348Arg)
c.4003A>C (p.Ser1335Arg)
c.3727A>C (p.Ser1243Arg)
c.3688A>C (p.Ser1230Arg)
c.4078A>C (p.Ser1360Arg)
c.3985A>C (p.Ser1329Arg)
c.3460A>C (p.Ser1154Arg)
c.3775A>C (p.Ser1259Arg)
n.8347A>C
3g.9475726A>GCA351693181SETD5n.2919A>G
c.4060A>G (p.Ser1354Gly)
n.4953A>G
n.2344A>G
n.6206A>G
c.3964A>G (p.Ser1322Gly)
c.*4110A>G (n.*4110A>G)
c.*4033A>G (n.*4033A>G)
c.*4338A>G (n.*4338A>G)
c.*4069A>G (n.*4069A>G)
c.3670A>G (p.Ser1224Gly)
c.2722+570A>G
c.4021A>G (p.Ser1341Gly)
c.3000A>G
n.3305A>G
n.4128A>G
c.4138A>G (p.Ser1380Gly)
c.4117A>G (p.Ser1373Gly)
c.4099A>G (p.Ser1367Gly)
c.4081A>G (p.Ser1361Gly)
c.4042A>G (p.Ser1348Gly)
c.4003A>G (p.Ser1335Gly)
c.3727A>G (p.Ser1243Gly)
c.3688A>G (p.Ser1230Gly)
c.4078A>G (p.Ser1360Gly)
c.3985A>G (p.Ser1329Gly)
c.3460A>G (p.Ser1154Gly)
c.3775A>G (p.Ser1259Gly)
n.8347A>G
3g.9475726A>TCA351693185SETD5n.2919A>T
c.4060A>T (p.Ser1354Cys)
n.4953A>T
n.2344A>T
n.6206A>T
c.3964A>T (p.Ser1322Cys)
c.*4110A>T (n.*4110A>T)
c.*4033A>T (n.*4033A>T)
c.*4338A>T (n.*4338A>T)
c.*4069A>T (n.*4069A>T)
c.3670A>T (p.Ser1224Cys)
c.2722+570A>T
c.4021A>T (p.Ser1341Cys)
c.3000A>T
n.3305A>T
n.4128A>T
c.4138A>T (p.Ser1380Cys)
c.4117A>T (p.Ser1373Cys)
c.4099A>T (p.Ser1367Cys)
c.4081A>T (p.Ser1361Cys)
c.4042A>T (p.Ser1348Cys)
c.4003A>T (p.Ser1335Cys)
c.3727A>T (p.Ser1243Cys)
c.3688A>T (p.Ser1230Cys)
c.4078A>T (p.Ser1360Cys)
c.3985A>T (p.Ser1329Cys)
c.3460A>T (p.Ser1154Cys)
c.3775A>T (p.Ser1259Cys)
n.8347A>T
 COSMIC COSMIC
3g.9475727G>ACA351693188SETD5n.2920G>A
c.4061G>A (p.Ser1354Asn)
n.4954G>A
n.2345G>A
n.6207G>A
c.3965G>A (p.Ser1322Asn)
c.*4111G>A (n.*4111G>A)
c.*4034G>A (n.*4034G>A)
c.*4339G>A (n.*4339G>A)
c.*4070G>A (n.*4070G>A)
c.3671G>A (p.Ser1224Asn)
c.2722+571G>A
c.4022G>A (p.Ser1341Asn)
c.3001G>A
n.3306G>A
n.4129G>A
c.4139G>A (p.Ser1380Asn)
c.4118G>A (p.Ser1373Asn)
c.4100G>A (p.Ser1367Asn)
c.4082G>A (p.Ser1361Asn)
c.4043G>A (p.Ser1348Asn)
c.4004G>A (p.Ser1335Asn)
c.3728G>A (p.Ser1243Asn)
c.3689G>A (p.Ser1230Asn)
c.4079G>A (p.Ser1360Asn)
c.3986G>A (p.Ser1329Asn)
c.3461G>A (p.Ser1154Asn)
c.3776G>A (p.Ser1259Asn)
n.8348G>A
3g.9475727G>CCA351693195SETD5n.2920G>C
c.4061G>C (p.Ser1354Thr)
n.4954G>C
n.2345G>C
n.6207G>C
c.3965G>C (p.Ser1322Thr)
c.*4111G>C (n.*4111G>C)
c.*4034G>C (n.*4034G>C)
c.*4339G>C (n.*4339G>C)
c.*4070G>C (n.*4070G>C)
c.3671G>C (p.Ser1224Thr)
c.2722+571G>C
c.4022G>C (p.Ser1341Thr)
c.3001G>C
n.3306G>C
n.4129G>C
c.4139G>C (p.Ser1380Thr)
c.4118G>C (p.Ser1373Thr)
c.4100G>C (p.Ser1367Thr)
c.4082G>C (p.Ser1361Thr)
c.4043G>C (p.Ser1348Thr)
c.4004G>C (p.Ser1335Thr)
c.3728G>C (p.Ser1243Thr)
c.3689G>C (p.Ser1230Thr)
c.4079G>C (p.Ser1360Thr)
c.3986G>C (p.Ser1329Thr)
c.3461G>C (p.Ser1154Thr)
c.3776G>C (p.Ser1259Thr)
n.8348G>C
3g.9475727G>TCA351693202SETD5n.2920G>T
c.4061G>T (p.Ser1354Ile)
n.4954G>T
n.2345G>T
n.6207G>T
c.3965G>T (p.Ser1322Ile)
c.*4111G>T (n.*4111G>T)
c.*4034G>T (n.*4034G>T)
c.*4339G>T (n.*4339G>T)
c.*4070G>T (n.*4070G>T)
c.3671G>T (p.Ser1224Ile)
c.2722+571G>T
c.4022G>T (p.Ser1341Ile)
c.3001G>T
n.3306G>T
n.4129G>T
c.4139G>T (p.Ser1380Ile)
c.4118G>T (p.Ser1373Ile)
c.4100G>T (p.Ser1367Ile)
c.4082G>T (p.Ser1361Ile)
c.4043G>T (p.Ser1348Ile)
c.4004G>T (p.Ser1335Ile)
c.3728G>T (p.Ser1243Ile)
c.3689G>T (p.Ser1230Ile)
c.4079G>T (p.Ser1360Ile)
c.3986G>T (p.Ser1329Ile)
c.3461G>T (p.Ser1154Ile)
c.3776G>T (p.Ser1259Ile)
n.8348G>T
3g.9475728C>ACA351693209SETD5n.2921C>A
c.4062C>A (p.Ser1354Arg)
n.4955C>A
n.2346C>A
n.6208C>A
c.3966C>A (p.Ser1322Arg)
c.*4112C>A (n.*4112C>A)
c.*4035C>A (n.*4035C>A)
c.*4340C>A (n.*4340C>A)
c.*4071C>A (n.*4071C>A)
c.3672C>A (p.Ser1224Arg)
c.2722+572C>A
c.4023C>A (p.Ser1341Arg)
c.3002C>A
n.3307C>A
n.4130C>A
c.4140C>A (p.Ser1380Arg)
c.4119C>A (p.Ser1373Arg)
c.4101C>A (p.Ser1367Arg)
c.4083C>A (p.Ser1361Arg)
c.4044C>A (p.Ser1348Arg)
c.4005C>A (p.Ser1335Arg)
c.3729C>A (p.Ser1243Arg)
c.3690C>A (p.Ser1230Arg)
c.4080C>A (p.Ser1360Arg)
c.3987C>A (p.Ser1329Arg)
c.3462C>A (p.Ser1154Arg)
c.3777C>A (p.Ser1259Arg)
n.8349C>A
3g.9475728C=CA1344742752SETD5n.2921C=
c.4062C= (p.Ser1354=)
n.4955C=
n.2346C=
n.6208C=
c.3966C= (p.Ser1322=)
c.*4112C= (n.*4112C=)
c.*4035C= (n.*4035C=)
c.*4340C= (n.*4340C=)
c.*4071C= (n.*4071C=)
c.3672C= (p.Ser1224=)
c.2722+572C=
c.4023C= (p.Ser1341=)
c.3002C=
n.3307C=
n.4130C=
c.4140C= (p.Ser1380=)
c.4119C= (p.Ser1373=)
c.4101C= (p.Ser1367=)
c.4083C= (p.Ser1361=)
c.4044C= (p.Ser1348=)
c.4005C= (p.Ser1335=)
c.3729C= (p.Ser1243=)
c.3690C= (p.Ser1230=)
c.4080C= (p.Ser1360=)
c.3987C= (p.Ser1329=)
c.3462C= (p.Ser1154=)
c.3777C= (p.Ser1259=)
n.8349C=
3g.9475728C>GCA351693211SETD5n.2921C>G
c.4062C>G (p.Ser1354Arg)
n.4955C>G
n.2346C>G
n.6208C>G
c.3966C>G (p.Ser1322Arg)
c.*4112C>G (n.*4112C>G)
c.*4035C>G (n.*4035C>G)
c.*4340C>G (n.*4340C>G)
c.*4071C>G (n.*4071C>G)
c.3672C>G (p.Ser1224Arg)
c.2722+572C>G
c.4023C>G (p.Ser1341Arg)
c.3002C>G
n.3307C>G
n.4130C>G
c.4140C>G (p.Ser1380Arg)
c.4119C>G (p.Ser1373Arg)
c.4101C>G (p.Ser1367Arg)
c.4083C>G (p.Ser1361Arg)
c.4044C>G (p.Ser1348Arg)
c.4005C>G (p.Ser1335Arg)
c.3729C>G (p.Ser1243Arg)
c.3690C>G (p.Ser1230Arg)
c.4080C>G (p.Ser1360Arg)
c.3987C>G (p.Ser1329Arg)
c.3462C>G (p.Ser1154Arg)
c.3777C>G (p.Ser1259Arg)
n.8349C>G
3g.9475728C>TCA432528398SETD5n.2921C>T
c.4062C>T (p.Ser1354=)
n.4955C>T
n.2346C>T
n.6208C>T
c.3966C>T (p.Ser1322=)
c.*4112C>T (n.*4112C>T)
c.*4035C>T (n.*4035C>T)
c.*4340C>T (n.*4340C>T)
c.*4071C>T (n.*4071C>T)
c.3672C>T (p.Ser1224=)
c.2722+572C>T
c.4023C>T (p.Ser1341=)
c.3002C>T
n.3307C>T
n.4130C>T
c.4140C>T (p.Ser1380=)
c.4119C>T (p.Ser1373=)
c.4101C>T (p.Ser1367=)
c.4083C>T (p.Ser1361=)
c.4044C>T (p.Ser1348=)
c.4005C>T (p.Ser1335=)
c.3729C>T (p.Ser1243=)
c.3690C>T (p.Ser1230=)
c.4080C>T (p.Ser1360=)
c.3987C>T (p.Ser1329=)
c.3462C>T (p.Ser1154=)
c.3777C>T (p.Ser1259=)
n.8349C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475729A=CA1344742756SETD5n.2922A=
c.4063A= (p.Ser1355=)
n.4956A=
n.2347A=
n.6209A=
c.3967A= (p.Ser1323=)
c.*4113A= (n.*4113A=)
c.*4036A= (n.*4036A=)
c.*4341A= (n.*4341A=)
c.*4072A= (n.*4072A=)
c.3673A= (p.Ser1225=)
c.2722+573A=
c.4024A= (p.Ser1342=)
c.3003A=
n.3308A=
n.4131A=
c.4141A= (p.Ser1381=)
c.4120A= (p.Ser1374=)
c.4102A= (p.Ser1368=)
c.4084A= (p.Ser1362=)
c.4045A= (p.Ser1349=)
c.4006A= (p.Ser1336=)
c.3730A= (p.Ser1244=)
c.3691A= (p.Ser1231=)
c.4081A= (p.Ser1361=)
c.3988A= (p.Ser1330=)
c.3463A= (p.Ser1155=)
c.3778A= (p.Ser1260=)
n.8350A=
3g.9475729A>CCA351693217SETD5n.2922A>C
c.4063A>C (p.Ser1355Arg)
n.4956A>C
n.2347A>C
n.6209A>C
c.3967A>C (p.Ser1323Arg)
c.*4113A>C (n.*4113A>C)
c.*4036A>C (n.*4036A>C)
c.*4341A>C (n.*4341A>C)
c.*4072A>C (n.*4072A>C)
c.3673A>C (p.Ser1225Arg)
c.2722+573A>C
c.4024A>C (p.Ser1342Arg)
c.3003A>C
n.3308A>C
n.4131A>C
c.4141A>C (p.Ser1381Arg)
c.4120A>C (p.Ser1374Arg)
c.4102A>C (p.Ser1368Arg)
c.4084A>C (p.Ser1362Arg)
c.4045A>C (p.Ser1349Arg)
c.4006A>C (p.Ser1336Arg)
c.3730A>C (p.Ser1244Arg)
c.3691A>C (p.Ser1231Arg)
c.4081A>C (p.Ser1361Arg)
c.3988A>C (p.Ser1330Arg)
c.3463A>C (p.Ser1155Arg)
c.3778A>C (p.Ser1260Arg)
n.8350A>C
 dbSNP
3g.9475729A>GCA351693225SETD5n.2922A>G
c.4063A>G (p.Ser1355Gly)
n.4956A>G
n.2347A>G
n.6209A>G
c.3967A>G (p.Ser1323Gly)
c.*4113A>G (n.*4113A>G)
c.*4036A>G (n.*4036A>G)
c.*4341A>G (n.*4341A>G)
c.*4072A>G (n.*4072A>G)
c.3673A>G (p.Ser1225Gly)
c.2722+573A>G
c.4024A>G (p.Ser1342Gly)
c.3003A>G
n.3308A>G
n.4131A>G
c.4141A>G (p.Ser1381Gly)
c.4120A>G (p.Ser1374Gly)
c.4102A>G (p.Ser1368Gly)
c.4084A>G (p.Ser1362Gly)
c.4045A>G (p.Ser1349Gly)
c.4006A>G (p.Ser1336Gly)
c.3730A>G (p.Ser1244Gly)
c.3691A>G (p.Ser1231Gly)
c.4081A>G (p.Ser1361Gly)
c.3988A>G (p.Ser1330Gly)
c.3463A>G (p.Ser1155Gly)
c.3778A>G (p.Ser1260Gly)
n.8350A>G
3g.9475729A>TCA351693230SETD5n.2922A>T
c.4063A>T (p.Ser1355Cys)
n.4956A>T
n.2347A>T
n.6209A>T
c.3967A>T (p.Ser1323Cys)
c.*4113A>T (n.*4113A>T)
c.*4036A>T (n.*4036A>T)
c.*4341A>T (n.*4341A>T)
c.*4072A>T (n.*4072A>T)
c.3673A>T (p.Ser1225Cys)
c.2722+573A>T
c.4024A>T (p.Ser1342Cys)
c.3003A>T
n.3308A>T
n.4131A>T
c.4141A>T (p.Ser1381Cys)
c.4120A>T (p.Ser1374Cys)
c.4102A>T (p.Ser1368Cys)
c.4084A>T (p.Ser1362Cys)
c.4045A>T (p.Ser1349Cys)
c.4006A>T (p.Ser1336Cys)
c.3730A>T (p.Ser1244Cys)
c.3691A>T (p.Ser1231Cys)
c.4081A>T (p.Ser1361Cys)
c.3988A>T (p.Ser1330Cys)
c.3463A>T (p.Ser1155Cys)
c.3778A>T (p.Ser1260Cys)
n.8350A>T
3g.9475730G>ACA351693235SETD5n.2923G>A
c.4064G>A (p.Ser1355Asn)
n.4957G>A
n.2348G>A
n.6210G>A
c.3968G>A (p.Ser1323Asn)
c.*4114G>A (n.*4114G>A)
c.*4037G>A (n.*4037G>A)
c.*4342G>A (n.*4342G>A)
c.*4073G>A (n.*4073G>A)
c.3674G>A (p.Ser1225Asn)
c.2722+574G>A
c.4025G>A (p.Ser1342Asn)
c.3004G>A
n.3309G>A
n.4132G>A
c.4142G>A (p.Ser1381Asn)
c.4121G>A (p.Ser1374Asn)
c.4103G>A (p.Ser1368Asn)
c.4085G>A (p.Ser1362Asn)
c.4046G>A (p.Ser1349Asn)
c.4007G>A (p.Ser1336Asn)
c.3731G>A (p.Ser1244Asn)
c.3692G>A (p.Ser1231Asn)
c.4082G>A (p.Ser1361Asn)
c.3989G>A (p.Ser1330Asn)
c.3464G>A (p.Ser1155Asn)
c.3779G>A (p.Ser1260Asn)
n.8351G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475730G>CCA351693240SETD5n.2923G>C
c.4064G>C (p.Ser1355Thr)
n.4957G>C
n.2348G>C
n.6210G>C
c.3968G>C (p.Ser1323Thr)
c.*4114G>C (n.*4114G>C)
c.*4037G>C (n.*4037G>C)
c.*4342G>C (n.*4342G>C)
c.*4073G>C (n.*4073G>C)
c.3674G>C (p.Ser1225Thr)
c.2722+574G>C
c.4025G>C (p.Ser1342Thr)
c.3004G>C
n.3309G>C
n.4132G>C
c.4142G>C (p.Ser1381Thr)
c.4121G>C (p.Ser1374Thr)
c.4103G>C (p.Ser1368Thr)
c.4085G>C (p.Ser1362Thr)
c.4046G>C (p.Ser1349Thr)
c.4007G>C (p.Ser1336Thr)
c.3731G>C (p.Ser1244Thr)
c.3692G>C (p.Ser1231Thr)
c.4082G>C (p.Ser1361Thr)
c.3989G>C (p.Ser1330Thr)
c.3464G>C (p.Ser1155Thr)
c.3779G>C (p.Ser1260Thr)
n.8351G>C
3g.9475730G=CA1344742760SETD5n.2923G=
c.4064G= (p.Ser1355=)
n.4957G=
n.2348G=
n.6210G=
c.3968G= (p.Ser1323=)
c.*4114G= (n.*4114G=)
c.*4037G= (n.*4037G=)
c.*4342G= (n.*4342G=)
c.*4073G= (n.*4073G=)
c.3674G= (p.Ser1225=)
c.2722+574G=
c.4025G= (p.Ser1342=)
c.3004G=
n.3309G=
n.4132G=
c.4142G= (p.Ser1381=)
c.4121G= (p.Ser1374=)
c.4103G= (p.Ser1368=)
c.4085G= (p.Ser1362=)
c.4046G= (p.Ser1349=)
c.4007G= (p.Ser1336=)
c.3731G= (p.Ser1244=)
c.3692G= (p.Ser1231=)
c.4082G= (p.Ser1361=)
c.3989G= (p.Ser1330=)
c.3464G= (p.Ser1155=)
c.3779G= (p.Ser1260=)
n.8351G=
3g.9475730G>TCA351693244SETD5n.2923G>T
c.4064G>T (p.Ser1355Ile)
n.4957G>T
n.2348G>T
n.6210G>T
c.3968G>T (p.Ser1323Ile)
c.*4114G>T (n.*4114G>T)
c.*4037G>T (n.*4037G>T)
c.*4342G>T (n.*4342G>T)
c.*4073G>T (n.*4073G>T)
c.3674G>T (p.Ser1225Ile)
c.2722+574G>T
c.4025G>T (p.Ser1342Ile)
c.3004G>T
n.3309G>T
n.4132G>T
c.4142G>T (p.Ser1381Ile)
c.4121G>T (p.Ser1374Ile)
c.4103G>T (p.Ser1368Ile)
c.4085G>T (p.Ser1362Ile)
c.4046G>T (p.Ser1349Ile)
c.4007G>T (p.Ser1336Ile)
c.3731G>T (p.Ser1244Ile)
c.3692G>T (p.Ser1231Ile)
c.4082G>T (p.Ser1361Ile)
c.3989G>T (p.Ser1330Ile)
c.3464G>T (p.Ser1155Ile)
c.3779G>T (p.Ser1260Ile)
n.8351G>T
3g.9475731C>ACA351693253SETD5n.2924C>A
c.4065C>A (p.Ser1355Arg)
n.4958C>A
n.2349C>A
n.6211C>A
c.3969C>A (p.Ser1323Arg)
c.*4115C>A (n.*4115C>A)
c.*4038C>A (n.*4038C>A)
c.*4343C>A (n.*4343C>A)
c.*4074C>A (n.*4074C>A)
c.3675C>A (p.Ser1225Arg)
c.2722+575C>A
c.4026C>A (p.Ser1342Arg)
c.3005C>A
n.3310C>A
n.4133C>A
c.4143C>A (p.Ser1381Arg)
c.4122C>A (p.Ser1374Arg)
c.4104C>A (p.Ser1368Arg)
c.4086C>A (p.Ser1362Arg)
c.4047C>A (p.Ser1349Arg)
c.4008C>A (p.Ser1336Arg)
c.3732C>A (p.Ser1244Arg)
c.3693C>A (p.Ser1231Arg)
c.4083C>A (p.Ser1361Arg)
c.3990C>A (p.Ser1330Arg)
c.3465C>A (p.Ser1155Arg)
c.3780C>A (p.Ser1260Arg)
n.8352C>A
3g.9475731C=CA1344742763SETD5n.2924C=
c.4065C= (p.Ser1355=)
n.4958C=
n.2349C=
n.6211C=
c.3969C= (p.Ser1323=)
c.*4115C= (n.*4115C=)
c.*4038C= (n.*4038C=)
c.*4343C= (n.*4343C=)
c.*4074C= (n.*4074C=)
c.3675C= (p.Ser1225=)
c.2722+575C=
c.4026C= (p.Ser1342=)
c.3005C=
n.3310C=
n.4133C=
c.4143C= (p.Ser1381=)
c.4122C= (p.Ser1374=)
c.4104C= (p.Ser1368=)
c.4086C= (p.Ser1362=)
c.4047C= (p.Ser1349=)
c.4008C= (p.Ser1336=)
c.3732C= (p.Ser1244=)
c.3693C= (p.Ser1231=)
c.4083C= (p.Ser1361=)
c.3990C= (p.Ser1330=)
c.3465C= (p.Ser1155=)
c.3780C= (p.Ser1260=)
n.8352C=
3g.9475731C>GCA351693260SETD5n.2924C>G
c.4065C>G (p.Ser1355Arg)
n.4958C>G
n.2349C>G
n.6211C>G
c.3969C>G (p.Ser1323Arg)
c.*4115C>G (n.*4115C>G)
c.*4038C>G (n.*4038C>G)
c.*4343C>G (n.*4343C>G)
c.*4074C>G (n.*4074C>G)
c.3675C>G (p.Ser1225Arg)
c.2722+575C>G
c.4026C>G (p.Ser1342Arg)
c.3005C>G
n.3310C>G
n.4133C>G
c.4143C>G (p.Ser1381Arg)
c.4122C>G (p.Ser1374Arg)
c.4104C>G (p.Ser1368Arg)
c.4086C>G (p.Ser1362Arg)
c.4047C>G (p.Ser1349Arg)
c.4008C>G (p.Ser1336Arg)
c.3732C>G (p.Ser1244Arg)
c.3693C>G (p.Ser1231Arg)
c.4083C>G (p.Ser1361Arg)
c.3990C>G (p.Ser1330Arg)
c.3465C>G (p.Ser1155Arg)
c.3780C>G (p.Ser1260Arg)
n.8352C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475731C>TCA432528402SETD5n.2924C>T
c.4065C>T (p.Ser1355=)
n.4958C>T
n.2349C>T
n.6211C>T
c.3969C>T (p.Ser1323=)
c.*4115C>T (n.*4115C>T)
c.*4038C>T (n.*4038C>T)
c.*4343C>T (n.*4343C>T)
c.*4074C>T (n.*4074C>T)
c.3675C>T (p.Ser1225=)
c.2722+575C>T
c.4026C>T (p.Ser1342=)
c.3005C>T
n.3310C>T
n.4133C>T
c.4143C>T (p.Ser1381=)
c.4122C>T (p.Ser1374=)
c.4104C>T (p.Ser1368=)
c.4086C>T (p.Ser1362=)
c.4047C>T (p.Ser1349=)
c.4008C>T (p.Ser1336=)
c.3732C>T (p.Ser1244=)
c.3693C>T (p.Ser1231=)
c.4083C>T (p.Ser1361=)
c.3990C>T (p.Ser1330=)
c.3465C>T (p.Ser1155=)
c.3780C>T (p.Ser1260=)
n.8352C>T
3g.9475732delCA2739278340SETD5n.2925del
c.4066del (p.Gln1356SerfsTer?)
n.4959del
n.2350del
n.6212del
c.3970del (p.Gln1324SerfsTer?)
c.*4116del (n.*4116del)
c.*4039del (n.*4039del)
c.*4344del (n.*4344del)
c.*4075del (n.*4075del)
c.3676del (p.Gln1226SerfsTer?)
c.2722+576del
c.4027del (p.Gln1343SerfsTer?)
c.3006del
n.3311del
n.4134del
c.4144del (p.Gln1382SerfsTer?)
c.4123del (p.Gln1375SerfsTer?)
c.4105del (p.Gln1369SerfsTer?)
c.4087del (p.Gln1363SerfsTer?)
c.4048del (p.Gln1350SerfsTer?)
c.4009del (p.Gln1337SerfsTer?)
c.3733del (p.Gln1245SerfsTer?)
c.3694del (p.Gln1232SerfsTer?)
c.4084del (p.Gln1362SerfsTer?)
c.3991del (p.Gln1331SerfsTer?)
c.3466del (p.Gln1156SerfsTer?)
c.3781del (p.Gln1261SerfsTer?)
n.8353del
 ClinVar
3g.9475732C>ACA351693270SETD5n.2925C>A
c.4066C>A (p.Gln1356Lys)
n.4959C>A
n.2350C>A
n.6212C>A
c.3970C>A (p.Gln1324Lys)
c.*4116C>A (n.*4116C>A)
c.*4039C>A (n.*4039C>A)
c.*4344C>A (n.*4344C>A)
c.*4075C>A (n.*4075C>A)
c.3676C>A (p.Gln1226Lys)
c.2722+576C>A
c.4027C>A (p.Gln1343Lys)
c.3006C>A
n.3311C>A
n.4134C>A
c.4144C>A (p.Gln1382Lys)
c.4123C>A (p.Gln1375Lys)
c.4105C>A (p.Gln1369Lys)
c.4087C>A (p.Gln1363Lys)
c.4048C>A (p.Gln1350Lys)
c.4009C>A (p.Gln1337Lys)
c.3733C>A (p.Gln1245Lys)
c.3694C>A (p.Gln1232Lys)
c.4084C>A (p.Gln1362Lys)
c.3991C>A (p.Gln1331Lys)
c.3466C>A (p.Gln1156Lys)
c.3781C>A (p.Gln1261Lys)
n.8353C>A
3g.9475732C>GCA351693274SETD5n.2925C>G
c.4066C>G (p.Gln1356Glu)
n.4959C>G
n.2350C>G
n.6212C>G
c.3970C>G (p.Gln1324Glu)
c.*4116C>G (n.*4116C>G)
c.*4039C>G (n.*4039C>G)
c.*4344C>G (n.*4344C>G)
c.*4075C>G (n.*4075C>G)
c.3676C>G (p.Gln1226Glu)
c.2722+576C>G
c.4027C>G (p.Gln1343Glu)
c.3006C>G
n.3311C>G
n.4134C>G
c.4144C>G (p.Gln1382Glu)
c.4123C>G (p.Gln1375Glu)
c.4105C>G (p.Gln1369Glu)
c.4087C>G (p.Gln1363Glu)
c.4048C>G (p.Gln1350Glu)
c.4009C>G (p.Gln1337Glu)
c.3733C>G (p.Gln1245Glu)
c.3694C>G (p.Gln1232Glu)
c.4084C>G (p.Gln1362Glu)
c.3991C>G (p.Gln1331Glu)
c.3466C>G (p.Gln1156Glu)
c.3781C>G (p.Gln1261Glu)
n.8353C>G
3g.9475732C>TCA351693279SETD5n.2925C>T
c.4066C>T (p.Gln1356Ter)
n.4959C>T
n.2350C>T
n.6212C>T
c.3970C>T (p.Gln1324Ter)
c.*4116C>T (n.*4116C>T)
c.*4039C>T (n.*4039C>T)
c.*4344C>T (n.*4344C>T)
c.*4075C>T (n.*4075C>T)
c.3676C>T (p.Gln1226Ter)
c.2722+576C>T
c.4027C>T (p.Gln1343Ter)
c.3006C>T
n.3311C>T
n.4134C>T
c.4144C>T (p.Gln1382Ter)
c.4123C>T (p.Gln1375Ter)
c.4105C>T (p.Gln1369Ter)
c.4087C>T (p.Gln1363Ter)
c.4048C>T (p.Gln1350Ter)
c.4009C>T (p.Gln1337Ter)
c.3733C>T (p.Gln1245Ter)
c.3694C>T (p.Gln1232Ter)
c.4084C>T (p.Gln1362Ter)
c.3991C>T (p.Gln1331Ter)
c.3466C>T (p.Gln1156Ter)
c.3781C>T (p.Gln1261Ter)
n.8353C>T
 gnomAD v4
3g.9475733A>CCA351693282SETD5n.2926A>C
c.4067A>C (p.Gln1356Pro)
n.4960A>C
n.2351A>C
n.6213A>C
c.3971A>C (p.Gln1324Pro)
c.*4117A>C (n.*4117A>C)
c.*4040A>C (n.*4040A>C)
c.*4345A>C (n.*4345A>C)
c.*4076A>C (n.*4076A>C)
c.3677A>C (p.Gln1226Pro)
c.2722+577A>C
c.4028A>C (p.Gln1343Pro)
c.3007A>C
n.3312A>C
n.4135A>C
c.4145A>C (p.Gln1382Pro)
c.4124A>C (p.Gln1375Pro)
c.4106A>C (p.Gln1369Pro)
c.4088A>C (p.Gln1363Pro)
c.4049A>C (p.Gln1350Pro)
c.4010A>C (p.Gln1337Pro)
c.3734A>C (p.Gln1245Pro)
c.3695A>C (p.Gln1232Pro)
c.4085A>C (p.Gln1362Pro)
c.3992A>C (p.Gln1331Pro)
c.3467A>C (p.Gln1156Pro)
c.3782A>C (p.Gln1261Pro)
n.8354A>C
3g.9475733A>GCA351693283SETD5n.2926A>G
c.4067A>G (p.Gln1356Arg)
n.4960A>G
n.2351A>G
n.6213A>G
c.3971A>G (p.Gln1324Arg)
c.*4117A>G (n.*4117A>G)
c.*4040A>G (n.*4040A>G)
c.*4345A>G (n.*4345A>G)
c.*4076A>G (n.*4076A>G)
c.3677A>G (p.Gln1226Arg)
c.2722+577A>G
c.4028A>G (p.Gln1343Arg)
c.3007A>G
n.3312A>G
n.4135A>G
c.4145A>G (p.Gln1382Arg)
c.4124A>G (p.Gln1375Arg)
c.4106A>G (p.Gln1369Arg)
c.4088A>G (p.Gln1363Arg)
c.4049A>G (p.Gln1350Arg)
c.4010A>G (p.Gln1337Arg)
c.3734A>G (p.Gln1245Arg)
c.3695A>G (p.Gln1232Arg)
c.4085A>G (p.Gln1362Arg)
c.3992A>G (p.Gln1331Arg)
c.3467A>G (p.Gln1156Arg)
c.3782A>G (p.Gln1261Arg)
n.8354A>G
3g.9475733A>TCA351693287SETD5n.2926A>T
c.4067A>T (p.Gln1356Leu)
n.4960A>T
n.2351A>T
n.6213A>T
c.3971A>T (p.Gln1324Leu)
c.*4117A>T (n.*4117A>T)
c.*4040A>T (n.*4040A>T)
c.*4345A>T (n.*4345A>T)
c.*4076A>T (n.*4076A>T)
c.3677A>T (p.Gln1226Leu)
c.2722+577A>T
c.4028A>T (p.Gln1343Leu)
c.3007A>T
n.3312A>T
n.4135A>T
c.4145A>T (p.Gln1382Leu)
c.4124A>T (p.Gln1375Leu)
c.4106A>T (p.Gln1369Leu)
c.4088A>T (p.Gln1363Leu)
c.4049A>T (p.Gln1350Leu)
c.4010A>T (p.Gln1337Leu)
c.3734A>T (p.Gln1245Leu)
c.3695A>T (p.Gln1232Leu)
c.4085A>T (p.Gln1362Leu)
c.3992A>T (p.Gln1331Leu)
c.3467A>T (p.Gln1156Leu)
c.3782A>T (p.Gln1261Leu)
n.8354A>T
3g.9475734G>ACA432528407SETD5n.2927G>A
c.4068G>A (p.Gln1356=)
n.4961G>A
n.2352G>A
n.6214G>A
c.3972G>A (p.Gln1324=)
c.*4118G>A (n.*4118G>A)
c.*4041G>A (n.*4041G>A)
c.*4346G>A (n.*4346G>A)
c.*4077G>A (n.*4077G>A)
c.3678G>A (p.Gln1226=)
c.2722+578G>A
c.4029G>A (p.Gln1343=)
c.3008G>A
n.3313G>A
n.4136G>A
c.4146G>A (p.Gln1382=)
c.4125G>A (p.Gln1375=)
c.4107G>A (p.Gln1369=)
c.4089G>A (p.Gln1363=)
c.4050G>A (p.Gln1350=)
c.4011G>A (p.Gln1337=)
c.3735G>A (p.Gln1245=)
c.3696G>A (p.Gln1232=)
c.4086G>A (p.Gln1362=)
c.3993G>A (p.Gln1331=)
c.3468G>A (p.Gln1156=)
c.3783G>A (p.Gln1261=)
n.8355G>A
 dbSNP gnomAD v3 gnomAD v4
3g.9475734G>CCA351693294SETD5n.2927G>C
c.4068G>C (p.Gln1356His)
n.4961G>C
n.2352G>C
n.6214G>C
c.3972G>C (p.Gln1324His)
c.*4118G>C (n.*4118G>C)
c.*4041G>C (n.*4041G>C)
c.*4346G>C (n.*4346G>C)
c.*4077G>C (n.*4077G>C)
c.3678G>C (p.Gln1226His)
c.2722+578G>C
c.4029G>C (p.Gln1343His)
c.3008G>C
n.3313G>C
n.4136G>C
c.4146G>C (p.Gln1382His)
c.4125G>C (p.Gln1375His)
c.4107G>C (p.Gln1369His)
c.4089G>C (p.Gln1363His)
c.4050G>C (p.Gln1350His)
c.4011G>C (p.Gln1337His)
c.3735G>C (p.Gln1245His)
c.3696G>C (p.Gln1232His)
c.4086G>C (p.Gln1362His)
c.3993G>C (p.Gln1331His)
c.3468G>C (p.Gln1156His)
c.3783G>C (p.Gln1261His)
n.8355G>C
3g.9475734G=CA1344742766SETD5n.2927G=
c.4068G= (p.Gln1356=)
n.4961G=
n.2352G=
n.6214G=
c.3972G= (p.Gln1324=)
c.*4118G= (n.*4118G=)
c.*4041G= (n.*4041G=)
c.*4346G= (n.*4346G=)
c.*4077G= (n.*4077G=)
c.3678G= (p.Gln1226=)
c.2722+578G=
c.4029G= (p.Gln1343=)
c.3008G=
n.3313G=
n.4136G=
c.4146G= (p.Gln1382=)
c.4125G= (p.Gln1375=)
c.4107G= (p.Gln1369=)
c.4089G= (p.Gln1363=)
c.4050G= (p.Gln1350=)
c.4011G= (p.Gln1337=)
c.3735G= (p.Gln1245=)
c.3696G= (p.Gln1232=)
c.4086G= (p.Gln1362=)
c.3993G= (p.Gln1331=)
c.3468G= (p.Gln1156=)
c.3783G= (p.Gln1261=)
n.8355G=
3g.9475734G>TCA351693300SETD5n.2927G>T
c.4068G>T (p.Gln1356His)
n.4961G>T
n.2352G>T
n.6214G>T
c.3972G>T (p.Gln1324His)
c.*4118G>T (n.*4118G>T)
c.*4041G>T (n.*4041G>T)
c.*4346G>T (n.*4346G>T)
c.*4077G>T (n.*4077G>T)
c.3678G>T (p.Gln1226His)
c.2722+578G>T
c.4029G>T (p.Gln1343His)
c.3008G>T
n.3313G>T
n.4136G>T
c.4146G>T (p.Gln1382His)
c.4125G>T (p.Gln1375His)
c.4107G>T (p.Gln1369His)
c.4089G>T (p.Gln1363His)
c.4050G>T (p.Gln1350His)
c.4011G>T (p.Gln1337His)
c.3735G>T (p.Gln1245His)
c.3696G>T (p.Gln1232His)
c.4086G>T (p.Gln1362His)
c.3993G>T (p.Gln1331His)
c.3468G>T (p.Gln1156His)
c.3783G>T (p.Gln1261His)
n.8355G>T
3g.9475735C>ACA351693307SETD5n.2928C>A
c.4069C>A (p.Pro1357Thr)
n.4962C>A
n.2353C>A
n.6215C>A
c.3973C>A (p.Pro1325Thr)
c.*4119C>A (n.*4119C>A)
c.*4042C>A (n.*4042C>A)
c.*4347C>A (n.*4347C>A)
c.*4078C>A (n.*4078C>A)
c.3679C>A (p.Pro1227Thr)
c.2722+579C>A
c.4030C>A (p.Pro1344Thr)
c.3009C>A
n.3314C>A
n.4137C>A
c.4147C>A (p.Pro1383Thr)
c.4126C>A (p.Pro1376Thr)
c.4108C>A (p.Pro1370Thr)
c.4090C>A (p.Pro1364Thr)
c.4051C>A (p.Pro1351Thr)
c.4012C>A (p.Pro1338Thr)
c.3736C>A (p.Pro1246Thr)
c.3697C>A (p.Pro1233Thr)
c.4087C>A (p.Pro1363Thr)
c.3994C>A (p.Pro1332Thr)
c.3469C>A (p.Pro1157Thr)
c.3784C>A (p.Pro1262Thr)
n.8356C>A
3g.9475735C>GCA351693308SETD5n.2928C>G
c.4069C>G (p.Pro1357Ala)
n.4962C>G
n.2353C>G
n.6215C>G
c.3973C>G (p.Pro1325Ala)
c.*4119C>G (n.*4119C>G)
c.*4042C>G (n.*4042C>G)
c.*4347C>G (n.*4347C>G)
c.*4078C>G (n.*4078C>G)
c.3679C>G (p.Pro1227Ala)
c.2722+579C>G
c.4030C>G (p.Pro1344Ala)
c.3009C>G
n.3314C>G
n.4137C>G
c.4147C>G (p.Pro1383Ala)
c.4126C>G (p.Pro1376Ala)
c.4108C>G (p.Pro1370Ala)
c.4090C>G (p.Pro1364Ala)
c.4051C>G (p.Pro1351Ala)
c.4012C>G (p.Pro1338Ala)
c.3736C>G (p.Pro1246Ala)
c.3697C>G (p.Pro1233Ala)
c.4087C>G (p.Pro1363Ala)
c.3994C>G (p.Pro1332Ala)
c.3469C>G (p.Pro1157Ala)
c.3784C>G (p.Pro1262Ala)
n.8356C>G
3g.9475735C>TCA351693310SETD5n.2928C>T
c.4069C>T (p.Pro1357Ser)
n.4962C>T
n.2353C>T
n.6215C>T
c.3973C>T (p.Pro1325Ser)
c.*4119C>T (n.*4119C>T)
c.*4042C>T (n.*4042C>T)
c.*4347C>T (n.*4347C>T)
c.*4078C>T (n.*4078C>T)
c.3679C>T (p.Pro1227Ser)
c.2722+579C>T
c.4030C>T (p.Pro1344Ser)
c.3009C>T
n.3314C>T
n.4137C>T
c.4147C>T (p.Pro1383Ser)
c.4126C>T (p.Pro1376Ser)
c.4108C>T (p.Pro1370Ser)
c.4090C>T (p.Pro1364Ser)
c.4051C>T (p.Pro1351Ser)
c.4012C>T (p.Pro1338Ser)
c.3736C>T (p.Pro1246Ser)
c.3697C>T (p.Pro1233Ser)
c.4087C>T (p.Pro1363Ser)
c.3994C>T (p.Pro1332Ser)
c.3469C>T (p.Pro1157Ser)
c.3784C>T (p.Pro1262Ser)
n.8356C>T
3g.9475736C>ACA351693320SETD5n.2929C>A
c.4070C>A (p.Pro1357Gln)
n.4963C>A
n.2354C>A
n.6216C>A
c.3974C>A (p.Pro1325Gln)
c.*4120C>A (n.*4120C>A)
c.*4043C>A (n.*4043C>A)
c.*4348C>A (n.*4348C>A)
c.*4079C>A (n.*4079C>A)
c.3680C>A (p.Pro1227Gln)
c.2722+580C>A
c.4031C>A (p.Pro1344Gln)
c.3010C>A
n.3315C>A
n.4138C>A
c.4148C>A (p.Pro1383Gln)
c.4127C>A (p.Pro1376Gln)
c.4109C>A (p.Pro1370Gln)
c.4091C>A (p.Pro1364Gln)
c.4052C>A (p.Pro1351Gln)
c.4013C>A (p.Pro1338Gln)
c.3737C>A (p.Pro1246Gln)
c.3698C>A (p.Pro1233Gln)
c.4088C>A (p.Pro1363Gln)
c.3995C>A (p.Pro1332Gln)
c.3470C>A (p.Pro1157Gln)
c.3785C>A (p.Pro1262Gln)
n.8357C>A
3g.9475736C>GCA351693319SETD5n.2929C>G
c.4070C>G (p.Pro1357Arg)
n.4963C>G
n.2354C>G
n.6216C>G
c.3974C>G (p.Pro1325Arg)
c.*4120C>G (n.*4120C>G)
c.*4043C>G (n.*4043C>G)
c.*4348C>G (n.*4348C>G)
c.*4079C>G (n.*4079C>G)
c.3680C>G (p.Pro1227Arg)
c.2722+580C>G
c.4031C>G (p.Pro1344Arg)
c.3010C>G
n.3315C>G
n.4138C>G
c.4148C>G (p.Pro1383Arg)
c.4127C>G (p.Pro1376Arg)
c.4109C>G (p.Pro1370Arg)
c.4091C>G (p.Pro1364Arg)
c.4052C>G (p.Pro1351Arg)
c.4013C>G (p.Pro1338Arg)
c.3737C>G (p.Pro1246Arg)
c.3698C>G (p.Pro1233Arg)
c.4088C>G (p.Pro1363Arg)
c.3995C>G (p.Pro1332Arg)
c.3470C>G (p.Pro1157Arg)
c.3785C>G (p.Pro1262Arg)
n.8357C>G
 dbSNP
3g.9475736C>TCA351693315SETD5n.2929C>T
c.4070C>T (p.Pro1357Leu)
n.4963C>T
n.2354C>T
n.6216C>T
c.3974C>T (p.Pro1325Leu)
c.*4120C>T (n.*4120C>T)
c.*4043C>T (n.*4043C>T)
c.*4348C>T (n.*4348C>T)
c.*4079C>T (n.*4079C>T)
c.3680C>T (p.Pro1227Leu)
c.2722+580C>T
c.4031C>T (p.Pro1344Leu)
c.3010C>T
n.3315C>T
n.4138C>T
c.4148C>T (p.Pro1383Leu)
c.4127C>T (p.Pro1376Leu)
c.4109C>T (p.Pro1370Leu)
c.4091C>T (p.Pro1364Leu)
c.4052C>T (p.Pro1351Leu)
c.4013C>T (p.Pro1338Leu)
c.3737C>T (p.Pro1246Leu)
c.3698C>T (p.Pro1233Leu)
c.4088C>T (p.Pro1363Leu)
c.3995C>T (p.Pro1332Leu)
c.3470C>T (p.Pro1157Leu)
c.3785C>T (p.Pro1262Leu)
n.8357C>T
3g.9475737A=CA1344742768SETD5n.2930A=
c.4071A= (p.Pro1357=)
n.4964A=
n.2355A=
n.6217A=
c.3975A= (p.Pro1325=)
c.*4121A= (n.*4121A=)
c.*4044A= (n.*4044A=)
c.*4349A= (n.*4349A=)
c.*4080A= (n.*4080A=)
c.3681A= (p.Pro1227=)
c.2722+581A=
c.4032A= (p.Pro1344=)
c.3011A=
n.3316A=
n.4139A=
c.4149A= (p.Pro1383=)
c.4128A= (p.Pro1376=)
c.4110A= (p.Pro1370=)
c.4092A= (p.Pro1364=)
c.4053A= (p.Pro1351=)
c.4014A= (p.Pro1338=)
c.3738A= (p.Pro1246=)
c.3699A= (p.Pro1233=)
c.4089A= (p.Pro1363=)
c.3996A= (p.Pro1332=)
c.3471A= (p.Pro1157=)
c.3786A= (p.Pro1262=)
n.8358A=
3g.9475737A>CCA432528414SETD5n.2930A>C
c.4071A>C (p.Pro1357=)
n.4964A>C
n.2355A>C
n.6217A>C
c.3975A>C (p.Pro1325=)
c.*4121A>C (n.*4121A>C)
c.*4044A>C (n.*4044A>C)
c.*4349A>C (n.*4349A>C)
c.*4080A>C (n.*4080A>C)
c.3681A>C (p.Pro1227=)
c.2722+581A>C
c.4032A>C (p.Pro1344=)
c.3011A>C
n.3316A>C
n.4139A>C
c.4149A>C (p.Pro1383=)
c.4128A>C (p.Pro1376=)
c.4110A>C (p.Pro1370=)
c.4092A>C (p.Pro1364=)
c.4053A>C (p.Pro1351=)
c.4014A>C (p.Pro1338=)
c.3738A>C (p.Pro1246=)
c.3699A>C (p.Pro1233=)
c.4089A>C (p.Pro1363=)
c.3996A>C (p.Pro1332=)
c.3471A>C (p.Pro1157=)
c.3786A>C (p.Pro1262=)
n.8358A>C
3g.9475737A>GCA432528415SETD5n.2930A>G
c.4071A>G (p.Pro1357=)
n.4964A>G
n.2355A>G
n.6217A>G
c.3975A>G (p.Pro1325=)
c.*4121A>G (n.*4121A>G)
c.*4044A>G (n.*4044A>G)
c.*4349A>G (n.*4349A>G)
c.*4080A>G (n.*4080A>G)
c.3681A>G (p.Pro1227=)
c.2722+581A>G
c.4032A>G (p.Pro1344=)
c.3011A>G
n.3316A>G
n.4139A>G
c.4149A>G (p.Pro1383=)
c.4128A>G (p.Pro1376=)
c.4110A>G (p.Pro1370=)
c.4092A>G (p.Pro1364=)
c.4053A>G (p.Pro1351=)
c.4014A>G (p.Pro1338=)
c.3738A>G (p.Pro1246=)
c.3699A>G (p.Pro1233=)
c.4089A>G (p.Pro1363=)
c.3996A>G (p.Pro1332=)
c.3471A>G (p.Pro1157=)
c.3786A>G (p.Pro1262=)
n.8358A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475737A>TCA432528416SETD5n.2930A>T
c.4071A>T (p.Pro1357=)
n.4964A>T
n.2355A>T
n.6217A>T
c.3975A>T (p.Pro1325=)
c.*4121A>T (n.*4121A>T)
c.*4044A>T (n.*4044A>T)
c.*4349A>T (n.*4349A>T)
c.*4080A>T (n.*4080A>T)
c.3681A>T (p.Pro1227=)
c.2722+581A>T
c.4032A>T (p.Pro1344=)
c.3011A>T
n.3316A>T
n.4139A>T
c.4149A>T (p.Pro1383=)
c.4128A>T (p.Pro1376=)
c.4110A>T (p.Pro1370=)
c.4092A>T (p.Pro1364=)
c.4053A>T (p.Pro1351=)
c.4014A>T (p.Pro1338=)
c.3738A>T (p.Pro1246=)
c.3699A>T (p.Pro1233=)
c.4089A>T (p.Pro1363=)
c.3996A>T (p.Pro1332=)
c.3471A>T (p.Pro1157=)
c.3786A>T (p.Pro1262=)
n.8358A>T
3g.9475738C>ACA351693321SETD5n.2931C>A
c.4072C>A (p.His1358Asn)
n.4965C>A
n.2356C>A
n.6218C>A
c.3976C>A (p.His1326Asn)
c.*4122C>A (n.*4122C>A)
c.*4045C>A (n.*4045C>A)
c.*4350C>A (n.*4350C>A)
c.*4081C>A (n.*4081C>A)
c.3682C>A (p.His1228Asn)
c.2722+582C>A
c.4033C>A (p.His1345Asn)
c.3012C>A
n.3317C>A
n.4140C>A
c.4150C>A (p.His1384Asn)
c.4129C>A (p.His1377Asn)
c.4111C>A (p.His1371Asn)
c.4093C>A (p.His1365Asn)
c.4054C>A (p.His1352Asn)
c.4015C>A (p.His1339Asn)
c.3739C>A (p.His1247Asn)
c.3700C>A (p.His1234Asn)
c.4090C>A (p.His1364Asn)
c.3997C>A (p.His1333Asn)
c.3472C>A (p.His1158Asn)
c.3787C>A (p.His1263Asn)
n.8359C>A
3g.9475738C=CA1344742770SETD5n.2931C=
c.4072C= (p.His1358=)
n.4965C=
n.2356C=
n.6218C=
c.3976C= (p.His1326=)
c.*4122C= (n.*4122C=)
c.*4045C= (n.*4045C=)
c.*4350C= (n.*4350C=)
c.*4081C= (n.*4081C=)
c.3682C= (p.His1228=)
c.2722+582C=
c.4033C= (p.His1345=)
c.3012C=
n.3317C=
n.4140C=
c.4150C= (p.His1384=)
c.4129C= (p.His1377=)
c.4111C= (p.His1371=)
c.4093C= (p.His1365=)
c.4054C= (p.His1352=)
c.4015C= (p.His1339=)
c.3739C= (p.His1247=)
c.3700C= (p.His1234=)
c.4090C= (p.His1364=)
c.3997C= (p.His1333=)
c.3472C= (p.His1158=)
c.3787C= (p.His1263=)
n.8359C=
3g.9475738C>GCA351693335SETD5n.2931C>G
c.4072C>G (p.His1358Asp)
n.4965C>G
n.2356C>G
n.6218C>G
c.3976C>G (p.His1326Asp)
c.*4122C>G (n.*4122C>G)
c.*4045C>G (n.*4045C>G)
c.*4350C>G (n.*4350C>G)
c.*4081C>G (n.*4081C>G)
c.3682C>G (p.His1228Asp)
c.2722+582C>G
c.4033C>G (p.His1345Asp)
c.3012C>G
n.3317C>G
n.4140C>G
c.4150C>G (p.His1384Asp)
c.4129C>G (p.His1377Asp)
c.4111C>G (p.His1371Asp)
c.4093C>G (p.His1365Asp)
c.4054C>G (p.His1352Asp)
c.4015C>G (p.His1339Asp)
c.3739C>G (p.His1247Asp)
c.3700C>G (p.His1234Asp)
c.4090C>G (p.His1364Asp)
c.3997C>G (p.His1333Asp)
c.3472C>G (p.His1158Asp)
c.3787C>G (p.His1263Asp)
n.8359C>G
3g.9475738C>TCA69951986SETD5n.2931C>T
c.4072C>T (p.His1358Tyr)
n.4965C>T
n.2356C>T
n.6218C>T
c.3976C>T (p.His1326Tyr)
c.*4122C>T (n.*4122C>T)
c.*4045C>T (n.*4045C>T)
c.*4350C>T (n.*4350C>T)
c.*4081C>T (n.*4081C>T)
c.3682C>T (p.His1228Tyr)
c.2722+582C>T
c.4033C>T (p.His1345Tyr)
c.3012C>T
n.3317C>T
n.4140C>T
c.4150C>T (p.His1384Tyr)
c.4129C>T (p.His1377Tyr)
c.4111C>T (p.His1371Tyr)
c.4093C>T (p.His1365Tyr)
c.4054C>T (p.His1352Tyr)
c.4015C>T (p.His1339Tyr)
c.3739C>T (p.His1247Tyr)
c.3700C>T (p.His1234Tyr)
c.4090C>T (p.His1364Tyr)
c.3997C>T (p.His1333Tyr)
c.3472C>T (p.His1158Tyr)
c.3787C>T (p.His1263Tyr)
n.8359C>T
 dbSNP gnomAD v3 gnomAD v4
3g.9475739A=CA1344742776SETD5n.2932A=
c.4073A= (p.His1358=)
n.4966A=
n.2357A=
n.6219A=
c.3977A= (p.His1326=)
c.*4123A= (n.*4123A=)
c.*4046A= (n.*4046A=)
c.*4351A= (n.*4351A=)
c.*4082A= (n.*4082A=)
c.3683A= (p.His1228=)
c.2722+583A=
c.4034A= (p.His1345=)
c.3013A=
n.3318A=
n.4141A=
c.4151A= (p.His1384=)
c.4130A= (p.His1377=)
c.4112A= (p.His1371=)
c.4094A= (p.His1365=)
c.4055A= (p.His1352=)
c.4016A= (p.His1339=)
c.3740A= (p.His1247=)
c.3701A= (p.His1234=)
c.4091A= (p.His1364=)
c.3998A= (p.His1333=)
c.3473A= (p.His1158=)
c.3788A= (p.His1263=)
n.8360A=
3g.9475739A>CCA351693356SETD5n.2932A>C
c.4073A>C (p.His1358Pro)
n.4966A>C
n.2357A>C
n.6219A>C
c.3977A>C (p.His1326Pro)
c.*4123A>C (n.*4123A>C)
c.*4046A>C (n.*4046A>C)
c.*4351A>C (n.*4351A>C)
c.*4082A>C (n.*4082A>C)
c.3683A>C (p.His1228Pro)
c.2722+583A>C
c.4034A>C (p.His1345Pro)
c.3013A>C
n.3318A>C
n.4141A>C
c.4151A>C (p.His1384Pro)
c.4130A>C (p.His1377Pro)
c.4112A>C (p.His1371Pro)
c.4094A>C (p.His1365Pro)
c.4055A>C (p.His1352Pro)
c.4016A>C (p.His1339Pro)
c.3740A>C (p.His1247Pro)
c.3701A>C (p.His1234Pro)
c.4091A>C (p.His1364Pro)
c.3998A>C (p.His1333Pro)
c.3473A>C (p.His1158Pro)
c.3788A>C (p.His1263Pro)
n.8360A>C
3g.9475739A>GCA2239843SETD5n.2932A>G
c.4073A>G (p.His1358Arg)
n.4966A>G
n.2357A>G
n.6219A>G
c.3977A>G (p.His1326Arg)
c.*4123A>G (n.*4123A>G)
c.*4046A>G (n.*4046A>G)
c.*4351A>G (n.*4351A>G)
c.*4082A>G (n.*4082A>G)
c.3683A>G (p.His1228Arg)
c.2722+583A>G
c.4034A>G (p.His1345Arg)
c.3013A>G
n.3318A>G
n.4141A>G
c.4151A>G (p.His1384Arg)
c.4130A>G (p.His1377Arg)
c.4112A>G (p.His1371Arg)
c.4094A>G (p.His1365Arg)
c.4055A>G (p.His1352Arg)
c.4016A>G (p.His1339Arg)
c.3740A>G (p.His1247Arg)
c.3701A>G (p.His1234Arg)
c.4091A>G (p.His1364Arg)
c.3998A>G (p.His1333Arg)
c.3473A>G (p.His1158Arg)
c.3788A>G (p.His1263Arg)
n.8360A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475739A>TCA351693378SETD5n.2932A>T
c.4073A>T (p.His1358Leu)
n.4966A>T
n.2357A>T
n.6219A>T
c.3977A>T (p.His1326Leu)
c.*4123A>T (n.*4123A>T)
c.*4046A>T (n.*4046A>T)
c.*4351A>T (n.*4351A>T)
c.*4082A>T (n.*4082A>T)
c.3683A>T (p.His1228Leu)
c.2722+583A>T
c.4034A>T (p.His1345Leu)
c.3013A>T
n.3318A>T
n.4141A>T
c.4151A>T (p.His1384Leu)
c.4130A>T (p.His1377Leu)
c.4112A>T (p.His1371Leu)
c.4094A>T (p.His1365Leu)
c.4055A>T (p.His1352Leu)
c.4016A>T (p.His1339Leu)
c.3740A>T (p.His1247Leu)
c.3701A>T (p.His1234Leu)
c.4091A>T (p.His1364Leu)
c.3998A>T (p.His1333Leu)
c.3473A>T (p.His1158Leu)
c.3788A>T (p.His1263Leu)
n.8360A>T
3g.9475740T>ACA351693381SETD5n.2933T>A
c.4074T>A (p.His1358Gln)
n.4967T>A
n.2358T>A
n.6220T>A
c.3978T>A (p.His1326Gln)
c.*4124T>A (n.*4124T>A)
c.*4047T>A (n.*4047T>A)
c.*4352T>A (n.*4352T>A)
c.*4083T>A (n.*4083T>A)
c.3684T>A (p.His1228Gln)
c.2722+584T>A
c.4035T>A (p.His1345Gln)
c.3014T>A
n.3319T>A
n.4142T>A
c.4152T>A (p.His1384Gln)
c.4131T>A (p.His1377Gln)
c.4113T>A (p.His1371Gln)
c.4095T>A (p.His1365Gln)
c.4056T>A (p.His1352Gln)
c.4017T>A (p.His1339Gln)
c.3741T>A (p.His1247Gln)
c.3702T>A (p.His1234Gln)
c.4092T>A (p.His1364Gln)
c.3999T>A (p.His1333Gln)
c.3474T>A (p.His1158Gln)
c.3789T>A (p.His1263Gln)
n.8361T>A
3g.9475740T>CCA432528421SETD5n.2933T>C
c.4074T>C (p.His1358=)
n.4967T>C
n.2358T>C
n.6220T>C
c.3978T>C (p.His1326=)
c.*4124T>C (n.*4124T>C)
c.*4047T>C (n.*4047T>C)
c.*4352T>C (n.*4352T>C)
c.*4083T>C (n.*4083T>C)
c.3684T>C (p.His1228=)
c.2722+584T>C
c.4035T>C (p.His1345=)
c.3014T>C
n.3319T>C
n.4142T>C
c.4152T>C (p.His1384=)
c.4131T>C (p.His1377=)
c.4113T>C (p.His1371=)
c.4095T>C (p.His1365=)
c.4056T>C (p.His1352=)
c.4017T>C (p.His1339=)
c.3741T>C (p.His1247=)
c.3702T>C (p.His1234=)
c.4092T>C (p.His1364=)
c.3999T>C (p.His1333=)
c.3474T>C (p.His1158=)
c.3789T>C (p.His1263=)
n.8361T>C
3g.9475740T>GCA351693389SETD5n.2933T>G
c.4074T>G (p.His1358Gln)
n.4967T>G
n.2358T>G
n.6220T>G
c.3978T>G (p.His1326Gln)
c.*4124T>G (n.*4124T>G)
c.*4047T>G (n.*4047T>G)
c.*4352T>G (n.*4352T>G)
c.*4083T>G (n.*4083T>G)
c.3684T>G (p.His1228Gln)
c.2722+584T>G
c.4035T>G (p.His1345Gln)
c.3014T>G
n.3319T>G
n.4142T>G
c.4152T>G (p.His1384Gln)
c.4131T>G (p.His1377Gln)
c.4113T>G (p.His1371Gln)
c.4095T>G (p.His1365Gln)
c.4056T>G (p.His1352Gln)
c.4017T>G (p.His1339Gln)
c.3741T>G (p.His1247Gln)
c.3702T>G (p.His1234Gln)
c.4092T>G (p.His1364Gln)
c.3999T>G (p.His1333Gln)
c.3474T>G (p.His1158Gln)
c.3789T>G (p.His1263Gln)
n.8361T>G
3g.9475741T>ACA351693396SETD5n.2934T>A
c.4075T>A (p.Ser1359Thr)
n.4968T>A
n.2359T>A
n.6221T>A
c.3979T>A (p.Ser1327Thr)
c.*4125T>A (n.*4125T>A)
c.*4048T>A (n.*4048T>A)
c.*4353T>A (n.*4353T>A)
c.*4084T>A (n.*4084T>A)
c.3685T>A (p.Ser1229Thr)
c.2722+585T>A
c.4036T>A (p.Ser1346Thr)
c.3015T>A
n.3320T>A
n.4143T>A
c.4153T>A (p.Ser1385Thr)
c.4132T>A (p.Ser1378Thr)
c.4114T>A (p.Ser1372Thr)
c.4096T>A (p.Ser1366Thr)
c.4057T>A (p.Ser1353Thr)
c.4018T>A (p.Ser1340Thr)
c.3742T>A (p.Ser1248Thr)
c.3703T>A (p.Ser1235Thr)
c.4093T>A (p.Ser1365Thr)
c.4000T>A (p.Ser1334Thr)
c.3475T>A (p.Ser1159Thr)
c.3790T>A (p.Ser1264Thr)
n.8362T>A
3g.9475741T>CCA351693400SETD5n.2934T>C
c.4075T>C (p.Ser1359Pro)
n.4968T>C
n.2359T>C
n.6221T>C
c.3979T>C (p.Ser1327Pro)
c.*4125T>C (n.*4125T>C)
c.*4048T>C (n.*4048T>C)
c.*4353T>C (n.*4353T>C)
c.*4084T>C (n.*4084T>C)
c.3685T>C (p.Ser1229Pro)
c.2722+585T>C
c.4036T>C (p.Ser1346Pro)
c.3015T>C
n.3320T>C
n.4143T>C
c.4153T>C (p.Ser1385Pro)
c.4132T>C (p.Ser1378Pro)
c.4114T>C (p.Ser1372Pro)
c.4096T>C (p.Ser1366Pro)
c.4057T>C (p.Ser1353Pro)
c.4018T>C (p.Ser1340Pro)
c.3742T>C (p.Ser1248Pro)
c.3703T>C (p.Ser1235Pro)
c.4093T>C (p.Ser1365Pro)
c.4000T>C (p.Ser1334Pro)
c.3475T>C (p.Ser1159Pro)
c.3790T>C (p.Ser1264Pro)
n.8362T>C
3g.9475741T>GCA351693408SETD5n.2934T>G
c.4075T>G (p.Ser1359Ala)
n.4968T>G
n.2359T>G
n.6221T>G
c.3979T>G (p.Ser1327Ala)
c.*4125T>G (n.*4125T>G)
c.*4048T>G (n.*4048T>G)
c.*4353T>G (n.*4353T>G)
c.*4084T>G (n.*4084T>G)
c.3685T>G (p.Ser1229Ala)
c.2722+585T>G
c.4036T>G (p.Ser1346Ala)
c.3015T>G
n.3320T>G
n.4143T>G
c.4153T>G (p.Ser1385Ala)
c.4132T>G (p.Ser1378Ala)
c.4114T>G (p.Ser1372Ala)
c.4096T>G (p.Ser1366Ala)
c.4057T>G (p.Ser1353Ala)
c.4018T>G (p.Ser1340Ala)
c.3742T>G (p.Ser1248Ala)
c.3703T>G (p.Ser1235Ala)
c.4093T>G (p.Ser1365Ala)
c.4000T>G (p.Ser1334Ala)
c.3475T>G (p.Ser1159Ala)
c.3790T>G (p.Ser1264Ala)
n.8362T>G
3g.9475742C>ACA351693412SETD5n.2935C>A
c.4076C>A (p.Ser1359Tyr)
n.4969C>A
n.2360C>A
n.6222C>A
c.3980C>A (p.Ser1327Tyr)
c.*4126C>A (n.*4126C>A)
c.*4049C>A (n.*4049C>A)
c.*4354C>A (n.*4354C>A)
c.*4085C>A (n.*4085C>A)
c.3686C>A (p.Ser1229Tyr)
c.2722+586C>A
c.4037C>A (p.Ser1346Tyr)
c.3016C>A
n.3321C>A
n.4144C>A
c.4154C>A (p.Ser1385Tyr)
c.4133C>A (p.Ser1378Tyr)
c.4115C>A (p.Ser1372Tyr)
c.4097C>A (p.Ser1366Tyr)
c.4058C>A (p.Ser1353Tyr)
c.4019C>A (p.Ser1340Tyr)
c.3743C>A (p.Ser1248Tyr)
c.3704C>A (p.Ser1235Tyr)
c.4094C>A (p.Ser1365Tyr)
c.4001C>A (p.Ser1334Tyr)
c.3476C>A (p.Ser1159Tyr)
c.3791C>A (p.Ser1264Tyr)
n.8363C>A
3g.9475742C>GCA351693415SETD5n.2935C>G
c.4076C>G (p.Ser1359Cys)
n.4969C>G
n.2360C>G
n.6222C>G
c.3980C>G (p.Ser1327Cys)
c.*4126C>G (n.*4126C>G)
c.*4049C>G (n.*4049C>G)
c.*4354C>G (n.*4354C>G)
c.*4085C>G (n.*4085C>G)
c.3686C>G (p.Ser1229Cys)
c.2722+586C>G
c.4037C>G (p.Ser1346Cys)
c.3016C>G
n.3321C>G
n.4144C>G
c.4154C>G (p.Ser1385Cys)
c.4133C>G (p.Ser1378Cys)
c.4115C>G (p.Ser1372Cys)
c.4097C>G (p.Ser1366Cys)
c.4058C>G (p.Ser1353Cys)
c.4019C>G (p.Ser1340Cys)
c.3743C>G (p.Ser1248Cys)
c.3704C>G (p.Ser1235Cys)
c.4094C>G (p.Ser1365Cys)
c.4001C>G (p.Ser1334Cys)
c.3476C>G (p.Ser1159Cys)
c.3791C>G (p.Ser1264Cys)
n.8363C>G
 COSMIC COSMIC
3g.9475742C>TCA351693419SETD5n.2935C>T
c.4076C>T (p.Ser1359Phe)
n.4969C>T
n.2360C>T
n.6222C>T
c.3980C>T (p.Ser1327Phe)
c.*4126C>T (n.*4126C>T)
c.*4049C>T (n.*4049C>T)
c.*4354C>T (n.*4354C>T)
c.*4085C>T (n.*4085C>T)
c.3686C>T (p.Ser1229Phe)
c.2722+586C>T
c.4037C>T (p.Ser1346Phe)
c.3016C>T
n.3321C>T
n.4144C>T
c.4154C>T (p.Ser1385Phe)
c.4133C>T (p.Ser1378Phe)
c.4115C>T (p.Ser1372Phe)
c.4097C>T (p.Ser1366Phe)
c.4058C>T (p.Ser1353Phe)
c.4019C>T (p.Ser1340Phe)
c.3743C>T (p.Ser1248Phe)
c.3704C>T (p.Ser1235Phe)
c.4094C>T (p.Ser1365Phe)
c.4001C>T (p.Ser1334Phe)
c.3476C>T (p.Ser1159Phe)
c.3791C>T (p.Ser1264Phe)
n.8363C>T
 gnomAD v4
3g.9475743T>ACA432528429SETD5n.2936T>A
c.4077T>A (p.Ser1359=)
n.4970T>A
n.2361T>A
n.6223T>A
c.3981T>A (p.Ser1327=)
c.*4127T>A (n.*4127T>A)
c.*4050T>A (n.*4050T>A)
c.*4355T>A (n.*4355T>A)
c.*4086T>A (n.*4086T>A)
c.3687T>A (p.Ser1229=)
c.2722+587T>A
c.4038T>A (p.Ser1346=)
c.3017T>A
n.3322T>A
n.4145T>A
c.4155T>A (p.Ser1385=)
c.4134T>A (p.Ser1378=)
c.4116T>A (p.Ser1372=)
c.4098T>A (p.Ser1366=)
c.4059T>A (p.Ser1353=)
c.4020T>A (p.Ser1340=)
c.3744T>A (p.Ser1248=)
c.3705T>A (p.Ser1235=)
c.4095T>A (p.Ser1365=)
c.4002T>A (p.Ser1334=)
c.3477T>A (p.Ser1159=)
c.3792T>A (p.Ser1264=)
n.8364T>A
3g.9475743T>CCA432528428SETD5n.2936T>C
c.4077T>C (p.Ser1359=)
n.4970T>C
n.2361T>C
n.6223T>C
c.3981T>C (p.Ser1327=)
c.*4127T>C (n.*4127T>C)
c.*4050T>C (n.*4050T>C)
c.*4355T>C (n.*4355T>C)
c.*4086T>C (n.*4086T>C)
c.3687T>C (p.Ser1229=)
c.2722+587T>C
c.4038T>C (p.Ser1346=)
c.3017T>C
n.3322T>C
n.4145T>C
c.4155T>C (p.Ser1385=)
c.4134T>C (p.Ser1378=)
c.4116T>C (p.Ser1372=)
c.4098T>C (p.Ser1366=)
c.4059T>C (p.Ser1353=)
c.4020T>C (p.Ser1340=)
c.3744T>C (p.Ser1248=)
c.3705T>C (p.Ser1235=)
c.4095T>C (p.Ser1365=)
c.4002T>C (p.Ser1334=)
c.3477T>C (p.Ser1159=)
c.3792T>C (p.Ser1264=)
n.8364T>C
 COSMIC
3g.9475743T>GCA432528427SETD5n.2936T>G
c.4077T>G (p.Ser1359=)
n.4970T>G
n.2361T>G
n.6223T>G
c.3981T>G (p.Ser1327=)
c.*4127T>G (n.*4127T>G)
c.*4050T>G (n.*4050T>G)
c.*4355T>G (n.*4355T>G)
c.*4086T>G (n.*4086T>G)
c.3687T>G (p.Ser1229=)
c.2722+587T>G
c.4038T>G (p.Ser1346=)
c.3017T>G
n.3322T>G
n.4145T>G
c.4155T>G (p.Ser1385=)
c.4134T>G (p.Ser1378=)
c.4116T>G (p.Ser1372=)
c.4098T>G (p.Ser1366=)
c.4059T>G (p.Ser1353=)
c.4020T>G (p.Ser1340=)
c.3744T>G (p.Ser1248=)
c.3705T>G (p.Ser1235=)
c.4095T>G (p.Ser1365=)
c.4002T>G (p.Ser1334=)
c.3477T>G (p.Ser1159=)
c.3792T>G (p.Ser1264=)
n.8364T>G
3g.9475744G>ACA351693425SETD5n.2937G>A
c.4078G>A (p.Gly1360Arg)
n.4971G>A
n.2362G>A
n.6224G>A
c.3982G>A (p.Gly1328Arg)
c.*4128G>A (n.*4128G>A)
c.*4051G>A (n.*4051G>A)
c.*4356G>A (n.*4356G>A)
c.*4087G>A (n.*4087G>A)
c.3688G>A (p.Gly1230Arg)
c.2722+588G>A
c.4039G>A (p.Gly1347Arg)
c.3018G>A
n.3323G>A
n.4146G>A
c.4156G>A (p.Gly1386Arg)
c.4135G>A (p.Gly1379Arg)
c.4117G>A (p.Gly1373Arg)
c.4099G>A (p.Gly1367Arg)
c.4060G>A (p.Gly1354Arg)
c.4021G>A (p.Gly1341Arg)
c.3745G>A (p.Gly1249Arg)
c.3706G>A (p.Gly1236Arg)
c.4096G>A (p.Gly1366Arg)
c.4003G>A (p.Gly1335Arg)
c.3478G>A (p.Gly1160Arg)
c.3793G>A (p.Gly1265Arg)
n.8365G>A
3g.9475744G>CCA351693420SETD5n.2937G>C
c.4078G>C (p.Gly1360Arg)
n.4971G>C
n.2362G>C
n.6224G>C
c.3982G>C (p.Gly1328Arg)
c.*4128G>C (n.*4128G>C)
c.*4051G>C (n.*4051G>C)
c.*4356G>C (n.*4356G>C)
c.*4087G>C (n.*4087G>C)
c.3688G>C (p.Gly1230Arg)
c.2722+588G>C
c.4039G>C (p.Gly1347Arg)
c.3018G>C
n.3323G>C
n.4146G>C
c.4156G>C (p.Gly1386Arg)
c.4135G>C (p.Gly1379Arg)
c.4117G>C (p.Gly1373Arg)
c.4099G>C (p.Gly1367Arg)
c.4060G>C (p.Gly1354Arg)
c.4021G>C (p.Gly1341Arg)
c.3745G>C (p.Gly1249Arg)
c.3706G>C (p.Gly1236Arg)
c.4096G>C (p.Gly1366Arg)
c.4003G>C (p.Gly1335Arg)
c.3478G>C (p.Gly1160Arg)
c.3793G>C (p.Gly1265Arg)
n.8365G>C
 dbSNP gnomAD v3 gnomAD v4
3g.9475744G=CA1344742779SETD5n.2937G=
c.4078G= (p.Gly1360=)
n.4971G=
n.2362G=
n.6224G=
c.3982G= (p.Gly1328=)
c.*4128G= (n.*4128G=)
c.*4051G= (n.*4051G=)
c.*4356G= (n.*4356G=)
c.*4087G= (n.*4087G=)
c.3688G= (p.Gly1230=)
c.2722+588G=
c.4039G= (p.Gly1347=)
c.3018G=
n.3323G=
n.4146G=
c.4156G= (p.Gly1386=)
c.4135G= (p.Gly1379=)
c.4117G= (p.Gly1373=)
c.4099G= (p.Gly1367=)
c.4060G= (p.Gly1354=)
c.4021G= (p.Gly1341=)
c.3745G= (p.Gly1249=)
c.3706G= (p.Gly1236=)
c.4096G= (p.Gly1366=)
c.4003G= (p.Gly1335=)
c.3478G= (p.Gly1160=)
c.3793G= (p.Gly1265=)
n.8365G=
3g.9475744G>TCA351693421SETD5n.2937G>T
c.4078G>T (p.Gly1360Ter)
n.4971G>T
n.2362G>T
n.6224G>T
c.3982G>T (p.Gly1328Ter)
c.*4128G>T (n.*4128G>T)
c.*4051G>T (n.*4051G>T)
c.*4356G>T (n.*4356G>T)
c.*4087G>T (n.*4087G>T)
c.3688G>T (p.Gly1230Ter)
c.2722+588G>T
c.4039G>T (p.Gly1347Ter)
c.3018G>T
n.3323G>T
n.4146G>T
c.4156G>T (p.Gly1386Ter)
c.4135G>T (p.Gly1379Ter)
c.4117G>T (p.Gly1373Ter)
c.4099G>T (p.Gly1367Ter)
c.4060G>T (p.Gly1354Ter)
c.4021G>T (p.Gly1341Ter)
c.3745G>T (p.Gly1249Ter)
c.3706G>T (p.Gly1236Ter)
c.4096G>T (p.Gly1366Ter)
c.4003G>T (p.Gly1335Ter)
c.3478G>T (p.Gly1160Ter)
c.3793G>T (p.Gly1265Ter)
n.8365G>T
3g.9475745G>ACA351693433SETD5n.2938G>A
c.4079G>A (p.Gly1360Glu)
n.4972G>A
n.2363G>A
n.6225G>A
c.3983G>A (p.Gly1328Glu)
c.*4129G>A (n.*4129G>A)
c.*4052G>A (n.*4052G>A)
c.*4357G>A (n.*4357G>A)
c.*4088G>A (n.*4088G>A)
c.3689G>A (p.Gly1230Glu)
c.2722+589G>A
c.4040G>A (p.Gly1347Glu)
c.3019G>A
n.3324G>A
n.4147G>A
c.4157G>A (p.Gly1386Glu)
c.4136G>A (p.Gly1379Glu)
c.4118G>A (p.Gly1373Glu)
c.4100G>A (p.Gly1367Glu)
c.4061G>A (p.Gly1354Glu)
c.4022G>A (p.Gly1341Glu)
c.3746G>A (p.Gly1249Glu)
c.3707G>A (p.Gly1236Glu)
c.4097G>A (p.Gly1366Glu)
c.4004G>A (p.Gly1335Glu)
c.3479G>A (p.Gly1160Glu)
c.3794G>A (p.Gly1265Glu)
n.8366G>A
3g.9475745G>CCA351693435SETD5n.2938G>C
c.4079G>C (p.Gly1360Ala)
n.4972G>C
n.2363G>C
n.6225G>C
c.3983G>C (p.Gly1328Ala)
c.*4129G>C (n.*4129G>C)
c.*4052G>C (n.*4052G>C)
c.*4357G>C (n.*4357G>C)
c.*4088G>C (n.*4088G>C)
c.3689G>C (p.Gly1230Ala)
c.2722+589G>C
c.4040G>C (p.Gly1347Ala)
c.3019G>C
n.3324G>C
n.4147G>C
c.4157G>C (p.Gly1386Ala)
c.4136G>C (p.Gly1379Ala)
c.4118G>C (p.Gly1373Ala)
c.4100G>C (p.Gly1367Ala)
c.4061G>C (p.Gly1354Ala)
c.4022G>C (p.Gly1341Ala)
c.3746G>C (p.Gly1249Ala)
c.3707G>C (p.Gly1236Ala)
c.4097G>C (p.Gly1366Ala)
c.4004G>C (p.Gly1335Ala)
c.3479G>C (p.Gly1160Ala)
c.3794G>C (p.Gly1265Ala)
n.8366G>C
3g.9475745G>TCA351693437SETD5n.2938G>T
c.4079G>T (p.Gly1360Val)
n.4972G>T
n.2363G>T
n.6225G>T
c.3983G>T (p.Gly1328Val)
c.*4129G>T (n.*4129G>T)
c.*4052G>T (n.*4052G>T)
c.*4357G>T (n.*4357G>T)
c.*4088G>T (n.*4088G>T)
c.3689G>T (p.Gly1230Val)
c.2722+589G>T
c.4040G>T (p.Gly1347Val)
c.3019G>T
n.3324G>T
n.4147G>T
c.4157G>T (p.Gly1386Val)
c.4136G>T (p.Gly1379Val)
c.4118G>T (p.Gly1373Val)
c.4100G>T (p.Gly1367Val)
c.4061G>T (p.Gly1354Val)
c.4022G>T (p.Gly1341Val)
c.3746G>T (p.Gly1249Val)
c.3707G>T (p.Gly1236Val)
c.4097G>T (p.Gly1366Val)
c.4004G>T (p.Gly1335Val)
c.3479G>T (p.Gly1160Val)
c.3794G>T (p.Gly1265Val)
n.8366G>T
 gnomAD v4
3g.9475746A>CCA432528431SETD5n.2939A>C
c.4080A>C (p.Gly1360=)
n.4973A>C
n.2364A>C
n.6226A>C
c.3984A>C (p.Gly1328=)
c.*4130A>C (n.*4130A>C)
c.*4053A>C (n.*4053A>C)
c.*4358A>C (n.*4358A>C)
c.*4089A>C (n.*4089A>C)
c.3690A>C (p.Gly1230=)
c.2722+590A>C
c.4041A>C (p.Gly1347=)
c.3020A>C
n.3325A>C
n.4148A>C
c.4158A>C (p.Gly1386=)
c.4137A>C (p.Gly1379=)
c.4119A>C (p.Gly1373=)
c.4101A>C (p.Gly1367=)
c.4062A>C (p.Gly1354=)
c.4023A>C (p.Gly1341=)
c.3747A>C (p.Gly1249=)
c.3708A>C (p.Gly1236=)
c.4098A>C (p.Gly1366=)
c.4005A>C (p.Gly1335=)
c.3480A>C (p.Gly1160=)
c.3795A>C (p.Gly1265=)
n.8367A>C
3g.9475746A>GCA432528432SETD5n.2939A>G
c.4080A>G (p.Gly1360=)
n.4973A>G
n.2364A>G
n.6226A>G
c.3984A>G (p.Gly1328=)
c.*4130A>G (n.*4130A>G)
c.*4053A>G (n.*4053A>G)
c.*4358A>G (n.*4358A>G)
c.*4089A>G (n.*4089A>G)
c.3690A>G (p.Gly1230=)
c.2722+590A>G
c.4041A>G (p.Gly1347=)
c.3020A>G
n.3325A>G
n.4148A>G
c.4158A>G (p.Gly1386=)
c.4137A>G (p.Gly1379=)
c.4119A>G (p.Gly1373=)
c.4101A>G (p.Gly1367=)
c.4062A>G (p.Gly1354=)
c.4023A>G (p.Gly1341=)
c.3747A>G (p.Gly1249=)
c.3708A>G (p.Gly1236=)
c.4098A>G (p.Gly1366=)
c.4005A>G (p.Gly1335=)
c.3480A>G (p.Gly1160=)
c.3795A>G (p.Gly1265=)
n.8367A>G
3g.9475746A>TCA432528433SETD5n.2939A>T
c.4080A>T (p.Gly1360=)
n.4973A>T
n.2364A>T
n.6226A>T
c.3984A>T (p.Gly1328=)
c.*4130A>T (n.*4130A>T)
c.*4053A>T (n.*4053A>T)
c.*4358A>T (n.*4358A>T)
c.*4089A>T (n.*4089A>T)
c.3690A>T (p.Gly1230=)
c.2722+590A>T
c.4041A>T (p.Gly1347=)
c.3020A>T
n.3325A>T
n.4148A>T
c.4158A>T (p.Gly1386=)
c.4137A>T (p.Gly1379=)
c.4119A>T (p.Gly1373=)
c.4101A>T (p.Gly1367=)
c.4062A>T (p.Gly1354=)
c.4023A>T (p.Gly1341=)
c.3747A>T (p.Gly1249=)
c.3708A>T (p.Gly1236=)
c.4098A>T (p.Gly1366=)
c.4005A>T (p.Gly1335=)
c.3480A>T (p.Gly1160=)
c.3795A>T (p.Gly1265=)
n.8367A>T
3g.9475748delCA432528435SETD5n.2941del
c.4082del (p.Asn1361ThrfsTer?)
n.4975del
n.2366del
n.6228del
c.3986del (p.Asn1329ThrfsTer?)
c.*4132del (n.*4132del)
c.*4055del (n.*4055del)
c.*4360del (n.*4360del)
c.*4091del (n.*4091del)
c.3692del (p.Asn1231ThrfsTer?)
c.2722+592del
c.4043del (p.Asn1348ThrfsTer?)
c.3022del
n.3327del
n.4150del
c.4160del (p.Asn1387ThrfsTer?)
c.4139del (p.Asn1380ThrfsTer?)
c.4121del (p.Asn1374ThrfsTer?)
c.4103del (p.Asn1368ThrfsTer?)
c.4064del (p.Asn1355ThrfsTer?)
c.4025del (p.Asn1342ThrfsTer?)
c.3749del (p.Asn1250ThrfsTer?)
c.3710del (p.Asn1237ThrfsTer?)
c.4100del (p.Asn1367ThrfsTer?)
c.4007del (p.Asn1336ThrfsTer?)
c.3482del (p.Asn1161ThrfsTer?)
c.3797del (p.Asn1266ThrfsTer?)
n.8369del
 COSMIC COSMIC
3g.9475747A>CCA351693442SETD5n.2940A>C
c.4081A>C (p.Asn1361His)
n.4974A>C
n.2365A>C
n.6227A>C
c.3985A>C (p.Asn1329His)
c.*4131A>C (n.*4131A>C)
c.*4054A>C (n.*4054A>C)
c.*4359A>C (n.*4359A>C)
c.*4090A>C (n.*4090A>C)
c.3691A>C (p.Asn1231His)
c.2722+591A>C
c.4042A>C (p.Asn1348His)
c.3021A>C
n.3326A>C
n.4149A>C
c.4159A>C (p.Asn1387His)
c.4138A>C (p.Asn1380His)
c.4120A>C (p.Asn1374His)
c.4102A>C (p.Asn1368His)
c.4063A>C (p.Asn1355His)
c.4024A>C (p.Asn1342His)
c.3748A>C (p.Asn1250His)
c.3709A>C (p.Asn1237His)
c.4099A>C (p.Asn1367His)
c.4006A>C (p.Asn1336His)
c.3481A>C (p.Asn1161His)
c.3796A>C (p.Asn1266His)
n.8368A>C
3g.9475747A>GCA351693446SETD5n.2940A>G
c.4081A>G (p.Asn1361Asp)
n.4974A>G
n.2365A>G
n.6227A>G
c.3985A>G (p.Asn1329Asp)
c.*4131A>G (n.*4131A>G)
c.*4054A>G (n.*4054A>G)
c.*4359A>G (n.*4359A>G)
c.*4090A>G (n.*4090A>G)
c.3691A>G (p.Asn1231Asp)
c.2722+591A>G
c.4042A>G (p.Asn1348Asp)
c.3021A>G
n.3326A>G
n.4149A>G
c.4159A>G (p.Asn1387Asp)
c.4138A>G (p.Asn1380Asp)
c.4120A>G (p.Asn1374Asp)
c.4102A>G (p.Asn1368Asp)
c.4063A>G (p.Asn1355Asp)
c.4024A>G (p.Asn1342Asp)
c.3748A>G (p.Asn1250Asp)
c.3709A>G (p.Asn1237Asp)
c.4099A>G (p.Asn1367Asp)
c.4006A>G (p.Asn1336Asp)
c.3481A>G (p.Asn1161Asp)
c.3796A>G (p.Asn1266Asp)
n.8368A>G
3g.9475747A>TCA351693450SETD5n.2940A>T
c.4081A>T (p.Asn1361Tyr)
n.4974A>T
n.2365A>T
n.6227A>T
c.3985A>T (p.Asn1329Tyr)
c.*4131A>T (n.*4131A>T)
c.*4054A>T (n.*4054A>T)
c.*4359A>T (n.*4359A>T)
c.*4090A>T (n.*4090A>T)
c.3691A>T (p.Asn1231Tyr)
c.2722+591A>T
c.4042A>T (p.Asn1348Tyr)
c.3021A>T
n.3326A>T
n.4149A>T
c.4159A>T (p.Asn1387Tyr)
c.4138A>T (p.Asn1380Tyr)
c.4120A>T (p.Asn1374Tyr)
c.4102A>T (p.Asn1368Tyr)
c.4063A>T (p.Asn1355Tyr)
c.4024A>T (p.Asn1342Tyr)
c.3748A>T (p.Asn1250Tyr)
c.3709A>T (p.Asn1237Tyr)
c.4099A>T (p.Asn1367Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3481A>T (p.Asn1161Tyr)
c.3796A>T (p.Asn1266Tyr)
n.8368A>T
3g.9475748A=CA1344742781SETD5n.2941A=
c.4082A= (p.Asn1361=)
n.4975A=
n.2366A=
n.6228A=
c.3986A= (p.Asn1329=)
c.*4132A= (n.*4132A=)
c.*4055A= (n.*4055A=)
c.*4360A= (n.*4360A=)
c.*4091A= (n.*4091A=)
c.3692A= (p.Asn1231=)
c.2722+592A=
c.4043A= (p.Asn1348=)
c.3022A=
n.3327A=
n.4150A=
c.4160A= (p.Asn1387=)
c.4139A= (p.Asn1380=)
c.4121A= (p.Asn1374=)
c.4103A= (p.Asn1368=)
c.4064A= (p.Asn1355=)
c.4025A= (p.Asn1342=)
c.3749A= (p.Asn1250=)
c.3710A= (p.Asn1237=)
c.4100A= (p.Asn1367=)
c.4007A= (p.Asn1336=)
c.3482A= (p.Asn1161=)
c.3797A= (p.Asn1266=)
n.8369A=
3g.9475748A>CCA351693454SETD5n.2941A>C
c.4082A>C (p.Asn1361Thr)
n.4975A>C
n.2366A>C
n.6228A>C
c.3986A>C (p.Asn1329Thr)
c.*4132A>C (n.*4132A>C)
c.*4055A>C (n.*4055A>C)
c.*4360A>C (n.*4360A>C)
c.*4091A>C (n.*4091A>C)
c.3692A>C (p.Asn1231Thr)
c.2722+592A>C
c.4043A>C (p.Asn1348Thr)
c.3022A>C
n.3327A>C
n.4150A>C
c.4160A>C (p.Asn1387Thr)
c.4139A>C (p.Asn1380Thr)
c.4121A>C (p.Asn1374Thr)
c.4103A>C (p.Asn1368Thr)
c.4064A>C (p.Asn1355Thr)
c.4025A>C (p.Asn1342Thr)
c.3749A>C (p.Asn1250Thr)
c.3710A>C (p.Asn1237Thr)
c.4100A>C (p.Asn1367Thr)
c.4007A>C (p.Asn1336Thr)
c.3482A>C (p.Asn1161Thr)
c.3797A>C (p.Asn1266Thr)
n.8369A>C
3g.9475748A>GCA69951990SETD5n.2941A>G
c.4082A>G (p.Asn1361Ser)
n.4975A>G
n.2366A>G
n.6228A>G
c.3986A>G (p.Asn1329Ser)
c.*4132A>G (n.*4132A>G)
c.*4055A>G (n.*4055A>G)
c.*4360A>G (n.*4360A>G)
c.*4091A>G (n.*4091A>G)
c.3692A>G (p.Asn1231Ser)
c.2722+592A>G
c.4043A>G (p.Asn1348Ser)
c.3022A>G
n.3327A>G
n.4150A>G
c.4160A>G (p.Asn1387Ser)
c.4139A>G (p.Asn1380Ser)
c.4121A>G (p.Asn1374Ser)
c.4103A>G (p.Asn1368Ser)
c.4064A>G (p.Asn1355Ser)
c.4025A>G (p.Asn1342Ser)
c.3749A>G (p.Asn1250Ser)
c.3710A>G (p.Asn1237Ser)
c.4100A>G (p.Asn1367Ser)
c.4007A>G (p.Asn1336Ser)
c.3482A>G (p.Asn1161Ser)
c.3797A>G (p.Asn1266Ser)
n.8369A>G
 ClinVar dbSNP gnomAD v4
3g.9475748A>TCA351693461SETD5n.2941A>T
c.4082A>T (p.Asn1361Ile)
n.4975A>T
n.2366A>T
n.6228A>T
c.3986A>T (p.Asn1329Ile)
c.*4132A>T (n.*4132A>T)
c.*4055A>T (n.*4055A>T)
c.*4360A>T (n.*4360A>T)
c.*4091A>T (n.*4091A>T)
c.3692A>T (p.Asn1231Ile)
c.2722+592A>T
c.4043A>T (p.Asn1348Ile)
c.3022A>T
n.3327A>T
n.4150A>T
c.4160A>T (p.Asn1387Ile)
c.4139A>T (p.Asn1380Ile)
c.4121A>T (p.Asn1374Ile)
c.4103A>T (p.Asn1368Ile)
c.4064A>T (p.Asn1355Ile)
c.4025A>T (p.Asn1342Ile)
c.3749A>T (p.Asn1250Ile)
c.3710A>T (p.Asn1237Ile)
c.4100A>T (p.Asn1367Ile)
c.4007A>T (p.Asn1336Ile)
c.3482A>T (p.Asn1161Ile)
c.3797A>T (p.Asn1266Ile)
n.8369A>T
3g.9475749C>ACA351693462SETD5n.2942C>A
c.4083C>A (p.Asn1361Lys)
n.4976C>A
n.2367C>A
n.6229C>A
c.3987C>A (p.Asn1329Lys)
c.*4133C>A (n.*4133C>A)
c.*4056C>A (n.*4056C>A)
c.*4361C>A (n.*4361C>A)
c.*4092C>A (n.*4092C>A)
c.3693C>A (p.Asn1231Lys)
c.2722+593C>A
c.4044C>A (p.Asn1348Lys)
c.3023C>A
n.3328C>A
n.4151C>A
c.4161C>A (p.Asn1387Lys)
c.4140C>A (p.Asn1380Lys)
c.4122C>A (p.Asn1374Lys)
c.4104C>A (p.Asn1368Lys)
c.4065C>A (p.Asn1355Lys)
c.4026C>A (p.Asn1342Lys)
c.3750C>A (p.Asn1250Lys)
c.3711C>A (p.Asn1237Lys)
c.4101C>A (p.Asn1367Lys)
c.4008C>A (p.Asn1336Lys)
c.3483C>A (p.Asn1161Lys)
c.3798C>A (p.Asn1266Lys)
n.8370C>A
3g.9475749C=CA1344742784SETD5n.2942C=
c.4083C= (p.Asn1361=)
n.4976C=
n.2367C=
n.6229C=
c.3987C= (p.Asn1329=)
c.*4133C= (n.*4133C=)
c.*4056C= (n.*4056C=)
c.*4361C= (n.*4361C=)
c.*4092C= (n.*4092C=)
c.3693C= (p.Asn1231=)
c.2722+593C=
c.4044C= (p.Asn1348=)
c.3023C=
n.3328C=
n.4151C=
c.4161C= (p.Asn1387=)
c.4140C= (p.Asn1380=)
c.4122C= (p.Asn1374=)
c.4104C= (p.Asn1368=)
c.4065C= (p.Asn1355=)
c.4026C= (p.Asn1342=)
c.3750C= (p.Asn1250=)
c.3711C= (p.Asn1237=)
c.4101C= (p.Asn1367=)
c.4008C= (p.Asn1336=)
c.3483C= (p.Asn1161=)
c.3798C= (p.Asn1266=)
n.8370C=
3g.9475749C>GCA351693464SETD5n.2942C>G
c.4083C>G (p.Asn1361Lys)
n.4976C>G
n.2367C>G
n.6229C>G
c.3987C>G (p.Asn1329Lys)
c.*4133C>G (n.*4133C>G)
c.*4056C>G (n.*4056C>G)
c.*4361C>G (n.*4361C>G)
c.*4092C>G (n.*4092C>G)
c.3693C>G (p.Asn1231Lys)
c.2722+593C>G
c.4044C>G (p.Asn1348Lys)
c.3023C>G
n.3328C>G
n.4151C>G
c.4161C>G (p.Asn1387Lys)
c.4140C>G (p.Asn1380Lys)
c.4122C>G (p.Asn1374Lys)
c.4104C>G (p.Asn1368Lys)
c.4065C>G (p.Asn1355Lys)
c.4026C>G (p.Asn1342Lys)
c.3750C>G (p.Asn1250Lys)
c.3711C>G (p.Asn1237Lys)
c.4101C>G (p.Asn1367Lys)
c.4008C>G (p.Asn1336Lys)
c.3483C>G (p.Asn1161Lys)
c.3798C>G (p.Asn1266Lys)
n.8370C>G
 dbSNP gnomAD v4
3g.9475749C>TCA432528441SETD5n.2942C>T
c.4083C>T (p.Asn1361=)
n.4976C>T
n.2367C>T
n.6229C>T
c.3987C>T (p.Asn1329=)
c.*4133C>T (n.*4133C>T)
c.*4056C>T (n.*4056C>T)
c.*4361C>T (n.*4361C>T)
c.*4092C>T (n.*4092C>T)
c.3693C>T (p.Asn1231=)
c.2722+593C>T
c.4044C>T (p.Asn1348=)
c.3023C>T
n.3328C>T
n.4151C>T
c.4161C>T (p.Asn1387=)
c.4140C>T (p.Asn1380=)
c.4122C>T (p.Asn1374=)
c.4104C>T (p.Asn1368=)
c.4065C>T (p.Asn1355=)
c.4026C>T (p.Asn1342=)
c.3750C>T (p.Asn1250=)
c.3711C>T (p.Asn1237=)
c.4101C>T (p.Asn1367=)
c.4008C>T (p.Asn1336=)
c.3483C>T (p.Asn1161=)
c.3798C>T (p.Asn1266=)
n.8370C>T
 dbSNP gnomAD v4
3g.9475750A=CA1344742787SETD5n.2943A=
c.4084A= (p.Ser1362=)
n.4977A=
n.2368A=
n.6230A=
c.3988A= (p.Ser1330=)
c.*4134A= (n.*4134A=)
c.*4057A= (n.*4057A=)
c.*4362A= (n.*4362A=)
c.*4093A= (n.*4093A=)
c.3694A= (p.Ser1232=)
c.2722+594A=
c.4045A= (p.Ser1349=)
c.3024A=
n.3329A=
n.4152A=
c.4162A= (p.Ser1388=)
c.4141A= (p.Ser1381=)
c.4123A= (p.Ser1375=)
c.4105A= (p.Ser1369=)
c.4066A= (p.Ser1356=)
c.4027A= (p.Ser1343=)
c.3751A= (p.Ser1251=)
c.3712A= (p.Ser1238=)
c.4102A= (p.Ser1368=)
c.4009A= (p.Ser1337=)
c.3484A= (p.Ser1162=)
c.3799A= (p.Ser1267=)
n.8371A=
3g.9475750A>CCA351693476SETD5n.2943A>C
c.4084A>C (p.Ser1362Arg)
n.4977A>C
n.2368A>C
n.6230A>C
c.3988A>C (p.Ser1330Arg)
c.*4134A>C (n.*4134A>C)
c.*4057A>C (n.*4057A>C)
c.*4362A>C (n.*4362A>C)
c.*4093A>C (n.*4093A>C)
c.3694A>C (p.Ser1232Arg)
c.2722+594A>C
c.4045A>C (p.Ser1349Arg)
c.3024A>C
n.3329A>C
n.4152A>C
c.4162A>C (p.Ser1388Arg)
c.4141A>C (p.Ser1381Arg)
c.4123A>C (p.Ser1375Arg)
c.4105A>C (p.Ser1369Arg)
c.4066A>C (p.Ser1356Arg)
c.4027A>C (p.Ser1343Arg)
c.3751A>C (p.Ser1251Arg)
c.3712A>C (p.Ser1238Arg)
c.4102A>C (p.Ser1368Arg)
c.4009A>C (p.Ser1337Arg)
c.3484A>C (p.Ser1162Arg)
c.3799A>C (p.Ser1267Arg)
n.8371A>C
3g.9475750A>GCA2239844SETD5n.2943A>G
c.4084A>G (p.Ser1362Gly)
n.4977A>G
n.2368A>G
n.6230A>G
c.3988A>G (p.Ser1330Gly)
c.*4134A>G (n.*4134A>G)
c.*4057A>G (n.*4057A>G)
c.*4362A>G (n.*4362A>G)
c.*4093A>G (n.*4093A>G)
c.3694A>G (p.Ser1232Gly)
c.2722+594A>G
c.4045A>G (p.Ser1349Gly)
c.3024A>G
n.3329A>G
n.4152A>G
c.4162A>G (p.Ser1388Gly)
c.4141A>G (p.Ser1381Gly)
c.4123A>G (p.Ser1375Gly)
c.4105A>G (p.Ser1369Gly)
c.4066A>G (p.Ser1356Gly)
c.4027A>G (p.Ser1343Gly)
c.3751A>G (p.Ser1251Gly)
c.3712A>G (p.Ser1238Gly)
c.4102A>G (p.Ser1368Gly)
c.4009A>G (p.Ser1337Gly)
c.3484A>G (p.Ser1162Gly)
c.3799A>G (p.Ser1267Gly)
n.8371A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475750A>TCA351693472SETD5n.2943A>T
c.4084A>T (p.Ser1362Cys)
n.4977A>T
n.2368A>T
n.6230A>T
c.3988A>T (p.Ser1330Cys)
c.*4134A>T (n.*4134A>T)
c.*4057A>T (n.*4057A>T)
c.*4362A>T (n.*4362A>T)
c.*4093A>T (n.*4093A>T)
c.3694A>T (p.Ser1232Cys)
c.2722+594A>T
c.4045A>T (p.Ser1349Cys)
c.3024A>T
n.3329A>T
n.4152A>T
c.4162A>T (p.Ser1388Cys)
c.4141A>T (p.Ser1381Cys)
c.4123A>T (p.Ser1375Cys)
c.4105A>T (p.Ser1369Cys)
c.4066A>T (p.Ser1356Cys)
c.4027A>T (p.Ser1343Cys)
c.3751A>T (p.Ser1251Cys)
c.3712A>T (p.Ser1238Cys)
c.4102A>T (p.Ser1368Cys)
c.4009A>T (p.Ser1337Cys)
c.3484A>T (p.Ser1162Cys)
c.3799A>T (p.Ser1267Cys)
n.8371A>T
3g.9475751G>ACA351693485SETD5n.2944G>A
c.4085G>A (p.Ser1362Asn)
n.4978G>A
n.2369G>A
n.6231G>A
c.3989G>A (p.Ser1330Asn)
c.*4135G>A (n.*4135G>A)
c.*4058G>A (n.*4058G>A)
c.*4363G>A (n.*4363G>A)
c.*4094G>A (n.*4094G>A)
c.3695G>A (p.Ser1232Asn)
c.2722+595G>A
c.4046G>A (p.Ser1349Asn)
c.3025G>A
n.3330G>A
n.4153G>A
c.4163G>A (p.Ser1388Asn)
c.4142G>A (p.Ser1381Asn)
c.4124G>A (p.Ser1375Asn)
c.4106G>A (p.Ser1369Asn)
c.4067G>A (p.Ser1356Asn)
c.4028G>A (p.Ser1343Asn)
c.3752G>A (p.Ser1251Asn)
c.3713G>A (p.Ser1238Asn)
c.4103G>A (p.Ser1368Asn)
c.4010G>A (p.Ser1337Asn)
c.3485G>A (p.Ser1162Asn)
c.3800G>A (p.Ser1267Asn)
n.8372G>A
 gnomAD v4
3g.9475751G>CCA351693488SETD5n.2944G>C
c.4085G>C (p.Ser1362Thr)
n.4978G>C
n.2369G>C
n.6231G>C
c.3989G>C (p.Ser1330Thr)
c.*4135G>C (n.*4135G>C)
c.*4058G>C (n.*4058G>C)
c.*4363G>C (n.*4363G>C)
c.*4094G>C (n.*4094G>C)
c.3695G>C (p.Ser1232Thr)
c.2722+595G>C
c.4046G>C (p.Ser1349Thr)
c.3025G>C
n.3330G>C
n.4153G>C
c.4163G>C (p.Ser1388Thr)
c.4142G>C (p.Ser1381Thr)
c.4124G>C (p.Ser1375Thr)
c.4106G>C (p.Ser1369Thr)
c.4067G>C (p.Ser1356Thr)
c.4028G>C (p.Ser1343Thr)
c.3752G>C (p.Ser1251Thr)
c.3713G>C (p.Ser1238Thr)
c.4103G>C (p.Ser1368Thr)
c.4010G>C (p.Ser1337Thr)
c.3485G>C (p.Ser1162Thr)
c.3800G>C (p.Ser1267Thr)
n.8372G>C
3g.9475751G>TCA351693492SETD5n.2944G>T
c.4085G>T (p.Ser1362Ile)
n.4978G>T
n.2369G>T
n.6231G>T
c.3989G>T (p.Ser1330Ile)
c.*4135G>T (n.*4135G>T)
c.*4058G>T (n.*4058G>T)
c.*4363G>T (n.*4363G>T)
c.*4094G>T (n.*4094G>T)
c.3695G>T (p.Ser1232Ile)
c.2722+595G>T
c.4046G>T (p.Ser1349Ile)
c.3025G>T
n.3330G>T
n.4153G>T
c.4163G>T (p.Ser1388Ile)
c.4142G>T (p.Ser1381Ile)
c.4124G>T (p.Ser1375Ile)
c.4106G>T (p.Ser1369Ile)
c.4067G>T (p.Ser1356Ile)
c.4028G>T (p.Ser1343Ile)
c.3752G>T (p.Ser1251Ile)
c.3713G>T (p.Ser1238Ile)
c.4103G>T (p.Ser1368Ile)
c.4010G>T (p.Ser1337Ile)
c.3485G>T (p.Ser1162Ile)
c.3800G>T (p.Ser1267Ile)
n.8372G>T
3g.9475752C>ACA351693496SETD5n.2945C>A
c.4086C>A (p.Ser1362Arg)
n.4979C>A
n.2370C>A
n.6232C>A
c.3990C>A (p.Ser1330Arg)
c.*4136C>A (n.*4136C>A)
c.*4059C>A (n.*4059C>A)
c.*4364C>A (n.*4364C>A)
c.*4095C>A (n.*4095C>A)
c.3696C>A (p.Ser1232Arg)
c.2722+596C>A
c.4047C>A (p.Ser1349Arg)
c.3026C>A
n.3331C>A
n.4154C>A
c.4164C>A (p.Ser1388Arg)
c.4143C>A (p.Ser1381Arg)
c.4125C>A (p.Ser1375Arg)
c.4107C>A (p.Ser1369Arg)
c.4068C>A (p.Ser1356Arg)
c.4029C>A (p.Ser1343Arg)
c.3753C>A (p.Ser1251Arg)
c.3714C>A (p.Ser1238Arg)
c.4104C>A (p.Ser1368Arg)
c.4011C>A (p.Ser1337Arg)
c.3486C>A (p.Ser1162Arg)
c.3801C>A (p.Ser1267Arg)
n.8373C>A
3g.9475752C>GCA351693498SETD5n.2945C>G
c.4086C>G (p.Ser1362Arg)
n.4979C>G
n.2370C>G
n.6232C>G
c.3990C>G (p.Ser1330Arg)
c.*4136C>G (n.*4136C>G)
c.*4059C>G (n.*4059C>G)
c.*4364C>G (n.*4364C>G)
c.*4095C>G (n.*4095C>G)
c.3696C>G (p.Ser1232Arg)
c.2722+596C>G
c.4047C>G (p.Ser1349Arg)
c.3026C>G
n.3331C>G
n.4154C>G
c.4164C>G (p.Ser1388Arg)
c.4143C>G (p.Ser1381Arg)
c.4125C>G (p.Ser1375Arg)
c.4107C>G (p.Ser1369Arg)
c.4068C>G (p.Ser1356Arg)
c.4029C>G (p.Ser1343Arg)
c.3753C>G (p.Ser1251Arg)
c.3714C>G (p.Ser1238Arg)
c.4104C>G (p.Ser1368Arg)
c.4011C>G (p.Ser1337Arg)
c.3486C>G (p.Ser1162Arg)
c.3801C>G (p.Ser1267Arg)
n.8373C>G
3g.9475752C>TCA432528452SETD5n.2945C>T
c.4086C>T (p.Ser1362=)
n.4979C>T
n.2370C>T
n.6232C>T
c.3990C>T (p.Ser1330=)
c.*4136C>T (n.*4136C>T)
c.*4059C>T (n.*4059C>T)
c.*4364C>T (n.*4364C>T)
c.*4095C>T (n.*4095C>T)
c.3696C>T (p.Ser1232=)
c.2722+596C>T
c.4047C>T (p.Ser1349=)
c.3026C>T
n.3331C>T
n.4154C>T
c.4164C>T (p.Ser1388=)
c.4143C>T (p.Ser1381=)
c.4125C>T (p.Ser1375=)
c.4107C>T (p.Ser1369=)
c.4068C>T (p.Ser1356=)
c.4029C>T (p.Ser1343=)
c.3753C>T (p.Ser1251=)
c.3714C>T (p.Ser1238=)
c.4104C>T (p.Ser1368=)
c.4011C>T (p.Ser1337=)
c.3486C>T (p.Ser1162=)
c.3801C>T (p.Ser1267=)
n.8373C>T
3g.9475753A>CCA351693511SETD5n.2946A>C
c.4087A>C (p.Thr1363Pro)
n.4980A>C
n.2371A>C
n.6233A>C
c.3991A>C (p.Thr1331Pro)
c.*4137A>C (n.*4137A>C)
c.*4060A>C (n.*4060A>C)
c.*4365A>C (n.*4365A>C)
c.*4096A>C (n.*4096A>C)
c.3697A>C (p.Thr1233Pro)
c.2722+597A>C
c.4048A>C (p.Thr1350Pro)
c.3027A>C
n.3332A>C
n.4155A>C
c.4165A>C (p.Thr1389Pro)
c.4144A>C (p.Thr1382Pro)
c.4126A>C (p.Thr1376Pro)
c.4108A>C (p.Thr1370Pro)
c.4069A>C (p.Thr1357Pro)
c.4030A>C (p.Thr1344Pro)
c.3754A>C (p.Thr1252Pro)
c.3715A>C (p.Thr1239Pro)
c.4105A>C (p.Thr1369Pro)
c.4012A>C (p.Thr1338Pro)
c.3487A>C (p.Thr1163Pro)
c.3802A>C (p.Thr1268Pro)
n.8374A>C
3g.9475753A>GCA351693508SETD5n.2946A>G
c.4087A>G (p.Thr1363Ala)
n.4980A>G
n.2371A>G
n.6233A>G
c.3991A>G (p.Thr1331Ala)
c.*4137A>G (n.*4137A>G)
c.*4060A>G (n.*4060A>G)
c.*4365A>G (n.*4365A>G)
c.*4096A>G (n.*4096A>G)
c.3697A>G (p.Thr1233Ala)
c.2722+597A>G
c.4048A>G (p.Thr1350Ala)
c.3027A>G
n.3332A>G
n.4155A>G
c.4165A>G (p.Thr1389Ala)
c.4144A>G (p.Thr1382Ala)
c.4126A>G (p.Thr1376Ala)
c.4108A>G (p.Thr1370Ala)
c.4069A>G (p.Thr1357Ala)
c.4030A>G (p.Thr1344Ala)
c.3754A>G (p.Thr1252Ala)
c.3715A>G (p.Thr1239Ala)
c.4105A>G (p.Thr1369Ala)
c.4012A>G (p.Thr1338Ala)
c.3487A>G (p.Thr1163Ala)
c.3802A>G (p.Thr1268Ala)
n.8374A>G
3g.9475753A>TCA351693504SETD5n.2946A>T
c.4087A>T (p.Thr1363Ser)
n.4980A>T
n.2371A>T
n.6233A>T
c.3991A>T (p.Thr1331Ser)
c.*4137A>T (n.*4137A>T)
c.*4060A>T (n.*4060A>T)
c.*4365A>T (n.*4365A>T)
c.*4096A>T (n.*4096A>T)
c.3697A>T (p.Thr1233Ser)
c.2722+597A>T
c.4048A>T (p.Thr1350Ser)
c.3027A>T
n.3332A>T
n.4155A>T
c.4165A>T (p.Thr1389Ser)
c.4144A>T (p.Thr1382Ser)
c.4126A>T (p.Thr1376Ser)
c.4108A>T (p.Thr1370Ser)
c.4069A>T (p.Thr1357Ser)
c.4030A>T (p.Thr1344Ser)
c.3754A>T (p.Thr1252Ser)
c.3715A>T (p.Thr1239Ser)
c.4105A>T (p.Thr1369Ser)
c.4012A>T (p.Thr1338Ser)
c.3487A>T (p.Thr1163Ser)
c.3802A>T (p.Thr1268Ser)
n.8374A>T
3g.9475754C>ACA351693517SETD5n.2947C>A
c.4088C>A (p.Thr1363Asn)
n.4981C>A
n.2372C>A
n.6234C>A
c.3992C>A (p.Thr1331Asn)
c.*4138C>A (n.*4138C>A)
c.*4061C>A (n.*4061C>A)
c.*4366C>A (n.*4366C>A)
c.*4097C>A (n.*4097C>A)
c.3698C>A (p.Thr1233Asn)
c.2722+598C>A
c.4049C>A (p.Thr1350Asn)
c.3028C>A
n.3333C>A
n.4156C>A
c.4166C>A (p.Thr1389Asn)
c.4145C>A (p.Thr1382Asn)
c.4127C>A (p.Thr1376Asn)
c.4109C>A (p.Thr1370Asn)
c.4070C>A (p.Thr1357Asn)
c.4031C>A (p.Thr1344Asn)
c.3755C>A (p.Thr1252Asn)
c.3716C>A (p.Thr1239Asn)
c.4106C>A (p.Thr1369Asn)
c.4013C>A (p.Thr1338Asn)
c.3488C>A (p.Thr1163Asn)
c.3803C>A (p.Thr1268Asn)
n.8375C>A
3g.9475754C=CA1344742788SETD5n.2947C=
c.4088C= (p.Thr1363=)
n.4981C=
n.2372C=
n.6234C=
c.3992C= (p.Thr1331=)
c.*4138C= (n.*4138C=)
c.*4061C= (n.*4061C=)
c.*4366C= (n.*4366C=)
c.*4097C= (n.*4097C=)
c.3698C= (p.Thr1233=)
c.2722+598C=
c.4049C= (p.Thr1350=)
c.3028C=
n.3333C=
n.4156C=
c.4166C= (p.Thr1389=)
c.4145C= (p.Thr1382=)
c.4127C= (p.Thr1376=)
c.4109C= (p.Thr1370=)
c.4070C= (p.Thr1357=)
c.4031C= (p.Thr1344=)
c.3755C= (p.Thr1252=)
c.3716C= (p.Thr1239=)
c.4106C= (p.Thr1369=)
c.4013C= (p.Thr1338=)
c.3488C= (p.Thr1163=)
c.3803C= (p.Thr1268=)
n.8375C=
3g.9475754C>GCA351693520SETD5n.2947C>G
c.4088C>G (p.Thr1363Ser)
n.4981C>G
n.2372C>G
n.6234C>G
c.3992C>G (p.Thr1331Ser)
c.*4138C>G (n.*4138C>G)
c.*4061C>G (n.*4061C>G)
c.*4366C>G (n.*4366C>G)
c.*4097C>G (n.*4097C>G)
c.3698C>G (p.Thr1233Ser)
c.2722+598C>G
c.4049C>G (p.Thr1350Ser)
c.3028C>G
n.3333C>G
n.4156C>G
c.4166C>G (p.Thr1389Ser)
c.4145C>G (p.Thr1382Ser)
c.4127C>G (p.Thr1376Ser)
c.4109C>G (p.Thr1370Ser)
c.4070C>G (p.Thr1357Ser)
c.4031C>G (p.Thr1344Ser)
c.3755C>G (p.Thr1252Ser)
c.3716C>G (p.Thr1239Ser)
c.4106C>G (p.Thr1369Ser)
c.4013C>G (p.Thr1338Ser)
c.3488C>G (p.Thr1163Ser)
c.3803C>G (p.Thr1268Ser)
n.8375C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475754C>TCA2239845SETD5n.2947C>T
c.4088C>T (p.Thr1363Ile)
n.4981C>T
n.2372C>T
n.6234C>T
c.3992C>T (p.Thr1331Ile)
c.*4138C>T (n.*4138C>T)
c.*4061C>T (n.*4061C>T)
c.*4366C>T (n.*4366C>T)
c.*4097C>T (n.*4097C>T)
c.3698C>T (p.Thr1233Ile)
c.2722+598C>T
c.4049C>T (p.Thr1350Ile)
c.3028C>T
n.3333C>T
n.4156C>T
c.4166C>T (p.Thr1389Ile)
c.4145C>T (p.Thr1382Ile)
c.4127C>T (p.Thr1376Ile)
c.4109C>T (p.Thr1370Ile)
c.4070C>T (p.Thr1357Ile)
c.4031C>T (p.Thr1344Ile)
c.3755C>T (p.Thr1252Ile)
c.3716C>T (p.Thr1239Ile)
c.4106C>T (p.Thr1369Ile)
c.4013C>T (p.Thr1338Ile)
c.3488C>T (p.Thr1163Ile)
c.3803C>T (p.Thr1268Ile)
n.8375C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475755T>ACA432528456SETD5n.2948T>A
c.4089T>A (p.Thr1363=)
n.4982T>A
n.2373T>A
n.6235T>A
c.3993T>A (p.Thr1331=)
c.*4139T>A (n.*4139T>A)
c.*4062T>A (n.*4062T>A)
c.*4367T>A (n.*4367T>A)
c.*4098T>A (n.*4098T>A)
c.3699T>A (p.Thr1233=)
c.2722+599T>A
c.4050T>A (p.Thr1350=)
c.3029T>A
n.3334T>A
n.4157T>A
c.4167T>A (p.Thr1389=)
c.4146T>A (p.Thr1382=)
c.4128T>A (p.Thr1376=)
c.4110T>A (p.Thr1370=)
c.4071T>A (p.Thr1357=)
c.4032T>A (p.Thr1344=)
c.3756T>A (p.Thr1252=)
c.3717T>A (p.Thr1239=)
c.4107T>A (p.Thr1369=)
c.4014T>A (p.Thr1338=)
c.3489T>A (p.Thr1163=)
c.3804T>A (p.Thr1268=)
n.8376T>A
3g.9475755T>CCA432528457SETD5n.2948T>C
c.4089T>C (p.Thr1363=)
n.4982T>C
n.2373T>C
n.6235T>C
c.3993T>C (p.Thr1331=)
c.*4139T>C (n.*4139T>C)
c.*4062T>C (n.*4062T>C)
c.*4367T>C (n.*4367T>C)
c.*4098T>C (n.*4098T>C)
c.3699T>C (p.Thr1233=)
c.2722+599T>C
c.4050T>C (p.Thr1350=)
c.3029T>C
n.3334T>C
n.4157T>C
c.4167T>C (p.Thr1389=)
c.4146T>C (p.Thr1382=)
c.4128T>C (p.Thr1376=)
c.4110T>C (p.Thr1370=)
c.4071T>C (p.Thr1357=)
c.4032T>C (p.Thr1344=)
c.3756T>C (p.Thr1252=)
c.3717T>C (p.Thr1239=)
c.4107T>C (p.Thr1369=)
c.4014T>C (p.Thr1338=)
c.3489T>C (p.Thr1163=)
c.3804T>C (p.Thr1268=)
n.8376T>C
3g.9475755T>GCA432528458SETD5n.2948T>G
c.4089T>G (p.Thr1363=)
n.4982T>G
n.2373T>G
n.6235T>G
c.3993T>G (p.Thr1331=)
c.*4139T>G (n.*4139T>G)
c.*4062T>G (n.*4062T>G)
c.*4367T>G (n.*4367T>G)
c.*4098T>G (n.*4098T>G)
c.3699T>G (p.Thr1233=)
c.2722+599T>G
c.4050T>G (p.Thr1350=)
c.3029T>G
n.3334T>G
n.4157T>G
c.4167T>G (p.Thr1389=)
c.4146T>G (p.Thr1382=)
c.4128T>G (p.Thr1376=)
c.4110T>G (p.Thr1370=)
c.4071T>G (p.Thr1357=)
c.4032T>G (p.Thr1344=)
c.3756T>G (p.Thr1252=)
c.3717T>G (p.Thr1239=)
c.4107T>G (p.Thr1369=)
c.4014T>G (p.Thr1338=)
c.3489T>G (p.Thr1163=)
c.3804T>G (p.Thr1268=)
n.8376T>G
 dbSNP gnomAD v2 gnomAD v4
3g.9475755T=CA1344742789SETD5n.2948T=
c.4089T= (p.Thr1363=)
n.4982T=
n.2373T=
n.6235T=
c.3993T= (p.Thr1331=)
c.*4139T= (n.*4139T=)
c.*4062T= (n.*4062T=)
c.*4367T= (n.*4367T=)
c.*4098T= (n.*4098T=)
c.3699T= (p.Thr1233=)
c.2722+599T=
c.4050T= (p.Thr1350=)
c.3029T=
n.3334T=
n.4157T=
c.4167T= (p.Thr1389=)
c.4146T= (p.Thr1382=)
c.4128T= (p.Thr1376=)
c.4110T= (p.Thr1370=)
c.4071T= (p.Thr1357=)
c.4032T= (p.Thr1344=)
c.3756T= (p.Thr1252=)
c.3717T= (p.Thr1239=)
c.4107T= (p.Thr1369=)
c.4014T= (p.Thr1338=)
c.3489T= (p.Thr1163=)
c.3804T= (p.Thr1268=)
n.8376T=
3g.9475756G>ACA351693530SETD5n.2949G>A
c.4090G>A (p.Gly1364Ser)
n.4983G>A
n.2374G>A
n.6236G>A
c.3994G>A (p.Gly1332Ser)
c.*4140G>A (n.*4140G>A)
c.*4063G>A (n.*4063G>A)
c.*4368G>A (n.*4368G>A)
c.*4099G>A (n.*4099G>A)
c.3700G>A (p.Gly1234Ser)
c.2722+600G>A
c.4051G>A (p.Gly1351Ser)
c.3030G>A
n.3335G>A
n.4158G>A
c.4168G>A (p.Gly1390Ser)
c.4147G>A (p.Gly1383Ser)
c.4129G>A (p.Gly1377Ser)
c.4111G>A (p.Gly1371Ser)
c.4072G>A (p.Gly1358Ser)
c.4033G>A (p.Gly1345Ser)
c.3757G>A (p.Gly1253Ser)
c.3718G>A (p.Gly1240Ser)
c.4108G>A (p.Gly1370Ser)
c.4015G>A (p.Gly1339Ser)
c.3490G>A (p.Gly1164Ser)
c.3805G>A (p.Gly1269Ser)
n.8377G>A
3g.9475756G>CCA351693533SETD5n.2949G>C
c.4090G>C (p.Gly1364Arg)
n.4983G>C
n.2374G>C
n.6236G>C
c.3994G>C (p.Gly1332Arg)
c.*4140G>C (n.*4140G>C)
c.*4063G>C (n.*4063G>C)
c.*4368G>C (n.*4368G>C)
c.*4099G>C (n.*4099G>C)
c.3700G>C (p.Gly1234Arg)
c.2722+600G>C
c.4051G>C (p.Gly1351Arg)
c.3030G>C
n.3335G>C
n.4158G>C
c.4168G>C (p.Gly1390Arg)
c.4147G>C (p.Gly1383Arg)
c.4129G>C (p.Gly1377Arg)
c.4111G>C (p.Gly1371Arg)
c.4072G>C (p.Gly1358Arg)
c.4033G>C (p.Gly1345Arg)
c.3757G>C (p.Gly1253Arg)
c.3718G>C (p.Gly1240Arg)
c.4108G>C (p.Gly1370Arg)
c.4015G>C (p.Gly1339Arg)
c.3490G>C (p.Gly1164Arg)
c.3805G>C (p.Gly1269Arg)
n.8377G>C
3g.9475756G>TCA351693538SETD5n.2949G>T
c.4090G>T (p.Gly1364Cys)
n.4983G>T
n.2374G>T
n.6236G>T
c.3994G>T (p.Gly1332Cys)
c.*4140G>T (n.*4140G>T)
c.*4063G>T (n.*4063G>T)
c.*4368G>T (n.*4368G>T)
c.*4099G>T (n.*4099G>T)
c.3700G>T (p.Gly1234Cys)
c.2722+600G>T
c.4051G>T (p.Gly1351Cys)
c.3030G>T
n.3335G>T
n.4158G>T
c.4168G>T (p.Gly1390Cys)
c.4147G>T (p.Gly1383Cys)
c.4129G>T (p.Gly1377Cys)
c.4111G>T (p.Gly1371Cys)
c.4072G>T (p.Gly1358Cys)
c.4033G>T (p.Gly1345Cys)
c.3757G>T (p.Gly1253Cys)
c.3718G>T (p.Gly1240Cys)
c.4108G>T (p.Gly1370Cys)
c.4015G>T (p.Gly1339Cys)
c.3490G>T (p.Gly1164Cys)
c.3805G>T (p.Gly1269Cys)
n.8377G>T
3g.9475757G>ACA351693544SETD5n.2950G>A
c.4091G>A (p.Gly1364Asp)
n.4984G>A
n.2375G>A
n.6237G>A
c.3995G>A (p.Gly1332Asp)
c.*4141G>A (n.*4141G>A)
c.*4064G>A (n.*4064G>A)
c.*4369G>A (n.*4369G>A)
c.*4100G>A (n.*4100G>A)
c.3701G>A (p.Gly1234Asp)
c.2722+601G>A
c.4052G>A (p.Gly1351Asp)
c.3031G>A
n.3336G>A
n.4159G>A
c.4169G>A (p.Gly1390Asp)
c.4148G>A (p.Gly1383Asp)
c.4130G>A (p.Gly1377Asp)
c.4112G>A (p.Gly1371Asp)
c.4073G>A (p.Gly1358Asp)
c.4034G>A (p.Gly1345Asp)
c.3758G>A (p.Gly1253Asp)
c.3719G>A (p.Gly1240Asp)
c.4109G>A (p.Gly1370Asp)
c.4016G>A (p.Gly1339Asp)
c.3491G>A (p.Gly1164Asp)
c.3806G>A (p.Gly1269Asp)
n.8378G>A
3g.9475757G>CCA351693549SETD5n.2950G>C
c.4091G>C (p.Gly1364Ala)
n.4984G>C
n.2375G>C
n.6237G>C
c.3995G>C (p.Gly1332Ala)
c.*4141G>C (n.*4141G>C)
c.*4064G>C (n.*4064G>C)
c.*4369G>C (n.*4369G>C)
c.*4100G>C (n.*4100G>C)
c.3701G>C (p.Gly1234Ala)
c.2722+601G>C
c.4052G>C (p.Gly1351Ala)
c.3031G>C
n.3336G>C
n.4159G>C
c.4169G>C (p.Gly1390Ala)
c.4148G>C (p.Gly1383Ala)
c.4130G>C (p.Gly1377Ala)
c.4112G>C (p.Gly1371Ala)
c.4073G>C (p.Gly1358Ala)
c.4034G>C (p.Gly1345Ala)
c.3758G>C (p.Gly1253Ala)
c.3719G>C (p.Gly1240Ala)
c.4109G>C (p.Gly1370Ala)
c.4016G>C (p.Gly1339Ala)
c.3491G>C (p.Gly1164Ala)
c.3806G>C (p.Gly1269Ala)
n.8378G>C
 gnomAD v4
3g.9475757G>TCA351693546SETD5n.2950G>T
c.4091G>T (p.Gly1364Val)
n.4984G>T
n.2375G>T
n.6237G>T
c.3995G>T (p.Gly1332Val)
c.*4141G>T (n.*4141G>T)
c.*4064G>T (n.*4064G>T)
c.*4369G>T (n.*4369G>T)
c.*4100G>T (n.*4100G>T)
c.3701G>T (p.Gly1234Val)
c.2722+601G>T
c.4052G>T (p.Gly1351Val)
c.3031G>T
n.3336G>T
n.4159G>T
c.4169G>T (p.Gly1390Val)
c.4148G>T (p.Gly1383Val)
c.4130G>T (p.Gly1377Val)
c.4112G>T (p.Gly1371Val)
c.4073G>T (p.Gly1358Val)
c.4034G>T (p.Gly1345Val)
c.3758G>T (p.Gly1253Val)
c.3719G>T (p.Gly1240Val)
c.4109G>T (p.Gly1370Val)
c.4016G>T (p.Gly1339Val)
c.3491G>T (p.Gly1164Val)
c.3806G>T (p.Gly1269Val)
n.8378G>T
3g.9475758C>ACA432528463SETD5n.2951C>A
c.4092C>A (p.Gly1364=)
n.4985C>A
n.2376C>A
n.6238C>A
c.3996C>A (p.Gly1332=)
c.*4142C>A (n.*4142C>A)
c.*4065C>A (n.*4065C>A)
c.*4370C>A (n.*4370C>A)
c.*4101C>A (n.*4101C>A)
c.3702C>A (p.Gly1234=)
c.2722+602C>A
c.4053C>A (p.Gly1351=)
c.3032C>A
n.3337C>A
n.4160C>A
c.4170C>A (p.Gly1390=)
c.4149C>A (p.Gly1383=)
c.4131C>A (p.Gly1377=)
c.4113C>A (p.Gly1371=)
c.4074C>A (p.Gly1358=)
c.4035C>A (p.Gly1345=)
c.3759C>A (p.Gly1253=)
c.3720C>A (p.Gly1240=)
c.4110C>A (p.Gly1370=)
c.4017C>A (p.Gly1339=)
c.3492C>A (p.Gly1164=)
c.3807C>A (p.Gly1269=)
n.8379C>A
3g.9475758C>GCA432528465SETD5n.2951C>G
c.4092C>G (p.Gly1364=)
n.4985C>G
n.2376C>G
n.6238C>G
c.3996C>G (p.Gly1332=)
c.*4142C>G (n.*4142C>G)
c.*4065C>G (n.*4065C>G)
c.*4370C>G (n.*4370C>G)
c.*4101C>G (n.*4101C>G)
c.3702C>G (p.Gly1234=)
c.2722+602C>G
c.4053C>G (p.Gly1351=)
c.3032C>G
n.3337C>G
n.4160C>G
c.4170C>G (p.Gly1390=)
c.4149C>G (p.Gly1383=)
c.4131C>G (p.Gly1377=)
c.4113C>G (p.Gly1371=)
c.4074C>G (p.Gly1358=)
c.4035C>G (p.Gly1345=)
c.3759C>G (p.Gly1253=)
c.3720C>G (p.Gly1240=)
c.4110C>G (p.Gly1370=)
c.4017C>G (p.Gly1339=)
c.3492C>G (p.Gly1164=)
c.3807C>G (p.Gly1269=)
n.8379C>G
3g.9475758C>TCA432528467SETD5n.2951C>T
c.4092C>T (p.Gly1364=)
n.4985C>T
n.2376C>T
n.6238C>T
c.3996C>T (p.Gly1332=)
c.*4142C>T (n.*4142C>T)
c.*4065C>T (n.*4065C>T)
c.*4370C>T (n.*4370C>T)
c.*4101C>T (n.*4101C>T)
c.3702C>T (p.Gly1234=)
c.2722+602C>T
c.4053C>T (p.Gly1351=)
c.3032C>T
n.3337C>T
n.4160C>T
c.4170C>T (p.Gly1390=)
c.4149C>T (p.Gly1383=)
c.4131C>T (p.Gly1377=)
c.4113C>T (p.Gly1371=)
c.4074C>T (p.Gly1358=)
c.4035C>T (p.Gly1345=)
c.3759C>T (p.Gly1253=)
c.3720C>T (p.Gly1240=)
c.4110C>T (p.Gly1370=)
c.4017C>T (p.Gly1339=)
c.3492C>T (p.Gly1164=)
c.3807C>T (p.Gly1269=)
n.8379C>T
 gnomAD v4
3g.9475759A=CA1344742790SETD5n.2952A=
c.4093A= (p.Ser1365=)
n.4986A=
n.2377A=
n.6239A=
c.3997A= (p.Ser1333=)
c.*4143A= (n.*4143A=)
c.*4066A= (n.*4066A=)
c.*4371A= (n.*4371A=)
c.*4102A= (n.*4102A=)
c.3703A= (p.Ser1235=)
c.2722+603A=
c.4054A= (p.Ser1352=)
c.3033A=
n.3338A=
n.4161A=
c.4171A= (p.Ser1391=)
c.4150A= (p.Ser1384=)
c.4132A= (p.Ser1378=)
c.4114A= (p.Ser1372=)
c.4075A= (p.Ser1359=)
c.4036A= (p.Ser1346=)
c.3760A= (p.Ser1254=)
c.3721A= (p.Ser1241=)
c.4111A= (p.Ser1371=)
c.4018A= (p.Ser1340=)
c.3493A= (p.Ser1165=)
c.3808A= (p.Ser1270=)
n.8380A=
3g.9475759A>CCA351693553SETD5n.2952A>C
c.4093A>C (p.Ser1365Arg)
n.4986A>C
n.2377A>C
n.6239A>C
c.3997A>C (p.Ser1333Arg)
c.*4143A>C (n.*4143A>C)
c.*4066A>C (n.*4066A>C)
c.*4371A>C (n.*4371A>C)
c.*4102A>C (n.*4102A>C)
c.3703A>C (p.Ser1235Arg)
c.2722+603A>C
c.4054A>C (p.Ser1352Arg)
c.3033A>C
n.3338A>C
n.4161A>C
c.4171A>C (p.Ser1391Arg)
c.4150A>C (p.Ser1384Arg)
c.4132A>C (p.Ser1378Arg)
c.4114A>C (p.Ser1372Arg)
c.4075A>C (p.Ser1359Arg)
c.4036A>C (p.Ser1346Arg)
c.3760A>C (p.Ser1254Arg)
c.3721A>C (p.Ser1241Arg)
c.4111A>C (p.Ser1371Arg)
c.4018A>C (p.Ser1340Arg)
c.3493A>C (p.Ser1165Arg)
c.3808A>C (p.Ser1270Arg)
n.8380A>C
 gnomAD v4
3g.9475759A>GCA351693556SETD5n.2952A>G
c.4093A>G (p.Ser1365Gly)
n.4986A>G
n.2377A>G
n.6239A>G
c.3997A>G (p.Ser1333Gly)
c.*4143A>G (n.*4143A>G)
c.*4066A>G (n.*4066A>G)
c.*4371A>G (n.*4371A>G)
c.*4102A>G (n.*4102A>G)
c.3703A>G (p.Ser1235Gly)
c.2722+603A>G
c.4054A>G (p.Ser1352Gly)
c.3033A>G
n.3338A>G
n.4161A>G
c.4171A>G (p.Ser1391Gly)
c.4150A>G (p.Ser1384Gly)
c.4132A>G (p.Ser1378Gly)
c.4114A>G (p.Ser1372Gly)
c.4075A>G (p.Ser1359Gly)
c.4036A>G (p.Ser1346Gly)
c.3760A>G (p.Ser1254Gly)
c.3721A>G (p.Ser1241Gly)
c.4111A>G (p.Ser1371Gly)
c.4018A>G (p.Ser1340Gly)
c.3493A>G (p.Ser1165Gly)
c.3808A>G (p.Ser1270Gly)
n.8380A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475759A>TCA351693559SETD5n.2952A>T
c.4093A>T (p.Ser1365Cys)
n.4986A>T
n.2377A>T
n.6239A>T
c.3997A>T (p.Ser1333Cys)
c.*4143A>T (n.*4143A>T)
c.*4066A>T (n.*4066A>T)
c.*4371A>T (n.*4371A>T)
c.*4102A>T (n.*4102A>T)
c.3703A>T (p.Ser1235Cys)
c.2722+603A>T
c.4054A>T (p.Ser1352Cys)
c.3033A>T
n.3338A>T
n.4161A>T
c.4171A>T (p.Ser1391Cys)
c.4150A>T (p.Ser1384Cys)
c.4132A>T (p.Ser1378Cys)
c.4114A>T (p.Ser1372Cys)
c.4075A>T (p.Ser1359Cys)
c.4036A>T (p.Ser1346Cys)
c.3760A>T (p.Ser1254Cys)
c.3721A>T (p.Ser1241Cys)
c.4111A>T (p.Ser1371Cys)
c.4018A>T (p.Ser1340Cys)
c.3493A>T (p.Ser1165Cys)
c.3808A>T (p.Ser1270Cys)
n.8380A>T
3g.9475760G>ACA2239846SETD5n.2953G>A
c.4094G>A (p.Ser1365Asn)
n.4987G>A
n.2378G>A
n.6240G>A
c.3998G>A (p.Ser1333Asn)
c.*4144G>A (n.*4144G>A)
c.*4067G>A (n.*4067G>A)
c.*4372G>A (n.*4372G>A)
c.*4103G>A (n.*4103G>A)
c.3704G>A (p.Ser1235Asn)
c.2722+604G>A
c.4055G>A (p.Ser1352Asn)
c.3034G>A
n.3339G>A
n.4162G>A
c.4172G>A (p.Ser1391Asn)
c.4151G>A (p.Ser1384Asn)
c.4133G>A (p.Ser1378Asn)
c.4115G>A (p.Ser1372Asn)
c.4076G>A (p.Ser1359Asn)
c.4037G>A (p.Ser1346Asn)
c.3761G>A (p.Ser1254Asn)
c.3722G>A (p.Ser1241Asn)
c.4112G>A (p.Ser1371Asn)
c.4019G>A (p.Ser1340Asn)
c.3494G>A (p.Ser1165Asn)
c.3809G>A (p.Ser1270Asn)
n.8381G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475760G>CCA351693570SETD5n.2953G>C
c.4094G>C (p.Ser1365Thr)
n.4987G>C
n.2378G>C
n.6240G>C
c.3998G>C (p.Ser1333Thr)
c.*4144G>C (n.*4144G>C)
c.*4067G>C (n.*4067G>C)
c.*4372G>C (n.*4372G>C)
c.*4103G>C (n.*4103G>C)
c.3704G>C (p.Ser1235Thr)
c.2722+604G>C
c.4055G>C (p.Ser1352Thr)
c.3034G>C
n.3339G>C
n.4162G>C
c.4172G>C (p.Ser1391Thr)
c.4151G>C (p.Ser1384Thr)
c.4133G>C (p.Ser1378Thr)
c.4115G>C (p.Ser1372Thr)
c.4076G>C (p.Ser1359Thr)
c.4037G>C (p.Ser1346Thr)
c.3761G>C (p.Ser1254Thr)
c.3722G>C (p.Ser1241Thr)
c.4112G>C (p.Ser1371Thr)
c.4019G>C (p.Ser1340Thr)
c.3494G>C (p.Ser1165Thr)
c.3809G>C (p.Ser1270Thr)
n.8381G>C
3g.9475760G=CA1344742791SETD5n.2953G=
c.4094G= (p.Ser1365=)
n.4987G=
n.2378G=
n.6240G=
c.3998G= (p.Ser1333=)
c.*4144G= (n.*4144G=)
c.*4067G= (n.*4067G=)
c.*4372G= (n.*4372G=)
c.*4103G= (n.*4103G=)
c.3704G= (p.Ser1235=)
c.2722+604G=
c.4055G= (p.Ser1352=)
c.3034G=
n.3339G=
n.4162G=
c.4172G= (p.Ser1391=)
c.4151G= (p.Ser1384=)
c.4133G= (p.Ser1378=)
c.4115G= (p.Ser1372=)
c.4076G= (p.Ser1359=)
c.4037G= (p.Ser1346=)
c.3761G= (p.Ser1254=)
c.3722G= (p.Ser1241=)
c.4112G= (p.Ser1371=)
c.4019G= (p.Ser1340=)
c.3494G= (p.Ser1165=)
c.3809G= (p.Ser1270=)
n.8381G=
3g.9475760G>TCA351693576SETD5n.2953G>T
c.4094G>T (p.Ser1365Ile)
n.4987G>T
n.2378G>T
n.6240G>T
c.3998G>T (p.Ser1333Ile)
c.*4144G>T (n.*4144G>T)
c.*4067G>T (n.*4067G>T)
c.*4372G>T (n.*4372G>T)
c.*4103G>T (n.*4103G>T)
c.3704G>T (p.Ser1235Ile)
c.2722+604G>T
c.4055G>T (p.Ser1352Ile)
c.3034G>T
n.3339G>T
n.4162G>T
c.4172G>T (p.Ser1391Ile)
c.4151G>T (p.Ser1384Ile)
c.4133G>T (p.Ser1378Ile)
c.4115G>T (p.Ser1372Ile)
c.4076G>T (p.Ser1359Ile)
c.4037G>T (p.Ser1346Ile)
c.3761G>T (p.Ser1254Ile)
c.3722G>T (p.Ser1241Ile)
c.4112G>T (p.Ser1371Ile)
c.4019G>T (p.Ser1340Ile)
c.3494G>T (p.Ser1165Ile)
c.3809G>T (p.Ser1270Ile)
n.8381G>T
3g.9475761C>ACA351693580SETD5n.2954C>A
c.4095C>A (p.Ser1365Arg)
n.4988C>A
n.2379C>A
n.6241C>A
c.3999C>A (p.Ser1333Arg)
c.*4145C>A (n.*4145C>A)
c.*4068C>A (n.*4068C>A)
c.*4373C>A (n.*4373C>A)
c.*4104C>A (n.*4104C>A)
c.3705C>A (p.Ser1235Arg)
c.2722+605C>A
c.4056C>A (p.Ser1352Arg)
c.3035C>A
n.3340C>A
n.4163C>A
c.4173C>A (p.Ser1391Arg)
c.4152C>A (p.Ser1384Arg)
c.4134C>A (p.Ser1378Arg)
c.4116C>A (p.Ser1372Arg)
c.4077C>A (p.Ser1359Arg)
c.4038C>A (p.Ser1346Arg)
c.3762C>A (p.Ser1254Arg)
c.3723C>A (p.Ser1241Arg)
c.4113C>A (p.Ser1371Arg)
c.4020C>A (p.Ser1340Arg)
c.3495C>A (p.Ser1165Arg)
c.3810C>A (p.Ser1270Arg)
n.8382C>A
3g.9475761C>GCA351693584SETD5n.2954C>G
c.4095C>G (p.Ser1365Arg)
n.4988C>G
n.2379C>G
n.6241C>G
c.3999C>G (p.Ser1333Arg)
c.*4145C>G (n.*4145C>G)
c.*4068C>G (n.*4068C>G)
c.*4373C>G (n.*4373C>G)
c.*4104C>G (n.*4104C>G)
c.3705C>G (p.Ser1235Arg)
c.2722+605C>G
c.4056C>G (p.Ser1352Arg)
c.3035C>G
n.3340C>G
n.4163C>G
c.4173C>G (p.Ser1391Arg)
c.4152C>G (p.Ser1384Arg)
c.4134C>G (p.Ser1378Arg)
c.4116C>G (p.Ser1372Arg)
c.4077C>G (p.Ser1359Arg)
c.4038C>G (p.Ser1346Arg)
c.3762C>G (p.Ser1254Arg)
c.3723C>G (p.Ser1241Arg)
c.4113C>G (p.Ser1371Arg)
c.4020C>G (p.Ser1340Arg)
c.3495C>G (p.Ser1165Arg)
c.3810C>G (p.Ser1270Arg)
n.8382C>G
3g.9475761C>TCA432528469SETD5n.2954C>T
c.4095C>T (p.Ser1365=)
n.4988C>T
n.2379C>T
n.6241C>T
c.3999C>T (p.Ser1333=)
c.*4145C>T (n.*4145C>T)
c.*4068C>T (n.*4068C>T)
c.*4373C>T (n.*4373C>T)
c.*4104C>T (n.*4104C>T)
c.3705C>T (p.Ser1235=)
c.2722+605C>T
c.4056C>T (p.Ser1352=)
c.3035C>T
n.3340C>T
n.4163C>T
c.4173C>T (p.Ser1391=)
c.4152C>T (p.Ser1384=)
c.4134C>T (p.Ser1378=)
c.4116C>T (p.Ser1372=)
c.4077C>T (p.Ser1359=)
c.4038C>T (p.Ser1346=)
c.3762C>T (p.Ser1254=)
c.3723C>T (p.Ser1241=)
c.4113C>T (p.Ser1371=)
c.4020C>T (p.Ser1340=)
c.3495C>T (p.Ser1165=)
c.3810C>T (p.Ser1270=)
n.8382C>T
 gnomAD v4
3g.9475762A>CCA351693590SETD5n.2955A>C
c.4096A>C (p.Asn1366His)
n.4989A>C
n.2380A>C
n.6242A>C
c.4000A>C (p.Asn1334His)
c.*4146A>C (n.*4146A>C)
c.*4069A>C (n.*4069A>C)
c.*4374A>C (n.*4374A>C)
c.*4105A>C (n.*4105A>C)
c.3706A>C (p.Asn1236His)
c.2722+606A>C
c.4057A>C (p.Asn1353His)
c.3036A>C
n.3341A>C
n.4164A>C
c.4174A>C (p.Asn1392His)
c.4153A>C (p.Asn1385His)
c.4135A>C (p.Asn1379His)
c.4117A>C (p.Asn1373His)
c.4078A>C (p.Asn1360His)
c.4039A>C (p.Asn1347His)
c.3763A>C (p.Asn1255His)
c.3724A>C (p.Asn1242His)
c.4114A>C (p.Asn1372His)
c.4021A>C (p.Asn1341His)
c.3496A>C (p.Asn1166His)
c.3811A>C (p.Asn1271His)
n.8383A>C
3g.9475762A>GCA351693593SETD5n.2955A>G
c.4096A>G (p.Asn1366Asp)
n.4989A>G
n.2380A>G
n.6242A>G
c.4000A>G (p.Asn1334Asp)
c.*4146A>G (n.*4146A>G)
c.*4069A>G (n.*4069A>G)
c.*4374A>G (n.*4374A>G)
c.*4105A>G (n.*4105A>G)
c.3706A>G (p.Asn1236Asp)
c.2722+606A>G
c.4057A>G (p.Asn1353Asp)
c.3036A>G
n.3341A>G
n.4164A>G
c.4174A>G (p.Asn1392Asp)
c.4153A>G (p.Asn1385Asp)
c.4135A>G (p.Asn1379Asp)
c.4117A>G (p.Asn1373Asp)
c.4078A>G (p.Asn1360Asp)
c.4039A>G (p.Asn1347Asp)
c.3763A>G (p.Asn1255Asp)
c.3724A>G (p.Asn1242Asp)
c.4114A>G (p.Asn1372Asp)
c.4021A>G (p.Asn1341Asp)
c.3496A>G (p.Asn1166Asp)
c.3811A>G (p.Asn1271Asp)
n.8383A>G
3g.9475762A>TCA351693595SETD5n.2955A>T
c.4096A>T (p.Asn1366Tyr)
n.4989A>T
n.2380A>T
n.6242A>T
c.4000A>T (p.Asn1334Tyr)
c.*4146A>T (n.*4146A>T)
c.*4069A>T (n.*4069A>T)
c.*4374A>T (n.*4374A>T)
c.*4105A>T (n.*4105A>T)
c.3706A>T (p.Asn1236Tyr)
c.2722+606A>T
c.4057A>T (p.Asn1353Tyr)
c.3036A>T
n.3341A>T
n.4164A>T
c.4174A>T (p.Asn1392Tyr)
c.4153A>T (p.Asn1385Tyr)
c.4135A>T (p.Asn1379Tyr)
c.4117A>T (p.Asn1373Tyr)
c.4078A>T (p.Asn1360Tyr)
c.4039A>T (p.Asn1347Tyr)
c.3763A>T (p.Asn1255Tyr)
c.3724A>T (p.Asn1242Tyr)
c.4114A>T (p.Asn1372Tyr)
c.4021A>T (p.Asn1341Tyr)
c.3496A>T (p.Asn1166Tyr)
c.3811A>T (p.Asn1271Tyr)
n.8383A>T
3g.9475763A=CA1344742792SETD5n.2956A=
c.4097A= (p.Asn1366=)
n.4990A=
n.2381A=
n.6243A=
c.4001A= (p.Asn1334=)
c.*4147A= (n.*4147A=)
c.*4070A= (n.*4070A=)
c.*4375A= (n.*4375A=)
c.*4106A= (n.*4106A=)
c.3707A= (p.Asn1236=)
c.2722+607A=
c.4058A= (p.Asn1353=)
c.3037A=
n.3342A=
n.4165A=
c.4175A= (p.Asn1392=)
c.4154A= (p.Asn1385=)
c.4136A= (p.Asn1379=)
c.4118A= (p.Asn1373=)
c.4079A= (p.Asn1360=)
c.4040A= (p.Asn1347=)
c.3764A= (p.Asn1255=)
c.3725A= (p.Asn1242=)
c.4115A= (p.Asn1372=)
c.4022A= (p.Asn1341=)
c.3497A= (p.Asn1166=)
c.3812A= (p.Asn1271=)
n.8384A=
3g.9475763A>CCA351693604SETD5n.2956A>C
c.4097A>C (p.Asn1366Thr)
n.4990A>C
n.2381A>C
n.6243A>C
c.4001A>C (p.Asn1334Thr)
c.*4147A>C (n.*4147A>C)
c.*4070A>C (n.*4070A>C)
c.*4375A>C (n.*4375A>C)
c.*4106A>C (n.*4106A>C)
c.3707A>C (p.Asn1236Thr)
c.2722+607A>C
c.4058A>C (p.Asn1353Thr)
c.3037A>C
n.3342A>C
n.4165A>C
c.4175A>C (p.Asn1392Thr)
c.4154A>C (p.Asn1385Thr)
c.4136A>C (p.Asn1379Thr)
c.4118A>C (p.Asn1373Thr)
c.4079A>C (p.Asn1360Thr)
c.4040A>C (p.Asn1347Thr)
c.3764A>C (p.Asn1255Thr)
c.3725A>C (p.Asn1242Thr)
c.4115A>C (p.Asn1372Thr)
c.4022A>C (p.Asn1341Thr)
c.3497A>C (p.Asn1166Thr)
c.3812A>C (p.Asn1271Thr)
n.8384A>C
3g.9475763A>GCA2239847SETD5n.2956A>G
c.4097A>G (p.Asn1366Ser)
n.4990A>G
n.2381A>G
n.6243A>G
c.4001A>G (p.Asn1334Ser)
c.*4147A>G (n.*4147A>G)
c.*4070A>G (n.*4070A>G)
c.*4375A>G (n.*4375A>G)
c.*4106A>G (n.*4106A>G)
c.3707A>G (p.Asn1236Ser)
c.2722+607A>G
c.4058A>G (p.Asn1353Ser)
c.3037A>G
n.3342A>G
n.4165A>G
c.4175A>G (p.Asn1392Ser)
c.4154A>G (p.Asn1385Ser)
c.4136A>G (p.Asn1379Ser)
c.4118A>G (p.Asn1373Ser)
c.4079A>G (p.Asn1360Ser)
c.4040A>G (p.Asn1347Ser)
c.3764A>G (p.Asn1255Ser)
c.3725A>G (p.Asn1242Ser)
c.4115A>G (p.Asn1372Ser)
c.4022A>G (p.Asn1341Ser)
c.3497A>G (p.Asn1166Ser)
c.3812A>G (p.Asn1271Ser)
n.8384A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475763A>TCA351693600SETD5n.2956A>T
c.4097A>T (p.Asn1366Ile)
n.4990A>T
n.2381A>T
n.6243A>T
c.4001A>T (p.Asn1334Ile)
c.*4147A>T (n.*4147A>T)
c.*4070A>T (n.*4070A>T)
c.*4375A>T (n.*4375A>T)
c.*4106A>T (n.*4106A>T)
c.3707A>T (p.Asn1236Ile)
c.2722+607A>T
c.4058A>T (p.Asn1353Ile)
c.3037A>T
n.3342A>T
n.4165A>T
c.4175A>T (p.Asn1392Ile)
c.4154A>T (p.Asn1385Ile)
c.4136A>T (p.Asn1379Ile)
c.4118A>T (p.Asn1373Ile)
c.4079A>T (p.Asn1360Ile)
c.4040A>T (p.Asn1347Ile)
c.3764A>T (p.Asn1255Ile)
c.3725A>T (p.Asn1242Ile)
c.4115A>T (p.Asn1372Ile)
c.4022A>T (p.Asn1341Ile)
c.3497A>T (p.Asn1166Ile)
c.3812A>T (p.Asn1271Ile)
n.8384A>T
3g.9475764T>ACA351693605SETD5n.2957T>A
c.4098T>A (p.Asn1366Lys)
n.4991T>A
n.2382T>A
n.6244T>A
c.4002T>A (p.Asn1334Lys)
c.*4148T>A (n.*4148T>A)
c.*4071T>A (n.*4071T>A)
c.*4376T>A (n.*4376T>A)
c.*4107T>A (n.*4107T>A)
c.3708T>A (p.Asn1236Lys)
c.2722+608T>A
c.4059T>A (p.Asn1353Lys)
c.3038T>A
n.3343T>A
n.4166T>A
c.4176T>A (p.Asn1392Lys)
c.4155T>A (p.Asn1385Lys)
c.4137T>A (p.Asn1379Lys)
c.4119T>A (p.Asn1373Lys)
c.4080T>A (p.Asn1360Lys)
c.4041T>A (p.Asn1347Lys)
c.3765T>A (p.Asn1255Lys)
c.3726T>A (p.Asn1242Lys)
c.4116T>A (p.Asn1372Lys)
c.4023T>A (p.Asn1341Lys)
c.3498T>A (p.Asn1166Lys)
c.3813T>A (p.Asn1271Lys)
n.8385T>A
3g.9475764T>CCA432528477SETD5n.2957T>C
c.4098T>C (p.Asn1366=)
n.4991T>C
n.2382T>C
n.6244T>C
c.4002T>C (p.Asn1334=)
c.*4148T>C (n.*4148T>C)
c.*4071T>C (n.*4071T>C)
c.*4376T>C (n.*4376T>C)
c.*4107T>C (n.*4107T>C)
c.3708T>C (p.Asn1236=)
c.2722+608T>C
c.4059T>C (p.Asn1353=)
c.3038T>C
n.3343T>C
n.4166T>C
c.4176T>C (p.Asn1392=)
c.4155T>C (p.Asn1385=)
c.4137T>C (p.Asn1379=)
c.4119T>C (p.Asn1373=)
c.4080T>C (p.Asn1360=)
c.4041T>C (p.Asn1347=)
c.3765T>C (p.Asn1255=)
c.3726T>C (p.Asn1242=)
c.4116T>C (p.Asn1372=)
c.4023T>C (p.Asn1341=)
c.3498T>C (p.Asn1166=)
c.3813T>C (p.Asn1271=)
n.8385T>C
3g.9475764T>GCA351693608SETD5n.2957T>G
c.4098T>G (p.Asn1366Lys)
n.4991T>G
n.2382T>G
n.6244T>G
c.4002T>G (p.Asn1334Lys)
c.*4148T>G (n.*4148T>G)
c.*4071T>G (n.*4071T>G)
c.*4376T>G (n.*4376T>G)
c.*4107T>G (n.*4107T>G)
c.3708T>G (p.Asn1236Lys)
c.2722+608T>G
c.4059T>G (p.Asn1353Lys)
c.3038T>G
n.3343T>G
n.4166T>G
c.4176T>G (p.Asn1392Lys)
c.4155T>G (p.Asn1385Lys)
c.4137T>G (p.Asn1379Lys)
c.4119T>G (p.Asn1373Lys)
c.4080T>G (p.Asn1360Lys)
c.4041T>G (p.Asn1347Lys)
c.3765T>G (p.Asn1255Lys)
c.3726T>G (p.Asn1242Lys)
c.4116T>G (p.Asn1372Lys)
c.4023T>G (p.Asn1341Lys)
c.3498T>G (p.Asn1166Lys)
c.3813T>G (p.Asn1271Lys)
n.8385T>G
3g.9475765C>ACA351693613SETD5n.2958C>A
c.4099C>A (p.Leu1367Ile)
n.4992C>A
n.2383C>A
n.6245C>A
c.4003C>A (p.Leu1335Ile)
c.*4149C>A (n.*4149C>A)
c.*4072C>A (n.*4072C>A)
c.*4377C>A (n.*4377C>A)
c.*4108C>A (n.*4108C>A)
c.3709C>A (p.Leu1237Ile)
c.2722+609C>A
c.4060C>A (p.Leu1354Ile)
c.3039C>A
n.3344C>A
n.4167C>A
c.4177C>A (p.Leu1393Ile)
c.4156C>A (p.Leu1386Ile)
c.4138C>A (p.Leu1380Ile)
c.4120C>A (p.Leu1374Ile)
c.4081C>A (p.Leu1361Ile)
c.4042C>A (p.Leu1348Ile)
c.3766C>A (p.Leu1256Ile)
c.3727C>A (p.Leu1243Ile)
c.4117C>A (p.Leu1373Ile)
c.4024C>A (p.Leu1342Ile)
c.3499C>A (p.Leu1167Ile)
c.3814C>A (p.Leu1272Ile)
n.8386C>A
3g.9475765C=CA1344742793SETD5n.2958C=
c.4099C= (p.Leu1367=)
n.4992C=
n.2383C=
n.6245C=
c.4003C= (p.Leu1335=)
c.*4149C= (n.*4149C=)
c.*4072C= (n.*4072C=)
c.*4377C= (n.*4377C=)
c.*4108C= (n.*4108C=)
c.3709C= (p.Leu1237=)
c.2722+609C=
c.4060C= (p.Leu1354=)
c.3039C=
n.3344C=
n.4167C=
c.4177C= (p.Leu1393=)
c.4156C= (p.Leu1386=)
c.4138C= (p.Leu1380=)
c.4120C= (p.Leu1374=)
c.4081C= (p.Leu1361=)
c.4042C= (p.Leu1348=)
c.3766C= (p.Leu1256=)
c.3727C= (p.Leu1243=)
c.4117C= (p.Leu1373=)
c.4024C= (p.Leu1342=)
c.3499C= (p.Leu1167=)
c.3814C= (p.Leu1272=)
n.8386C=
3g.9475765C>GCA351693620SETD5n.2958C>G
c.4099C>G (p.Leu1367Val)
n.4992C>G
n.2383C>G
n.6245C>G
c.4003C>G (p.Leu1335Val)
c.*4149C>G (n.*4149C>G)
c.*4072C>G (n.*4072C>G)
c.*4377C>G (n.*4377C>G)
c.*4108C>G (n.*4108C>G)
c.3709C>G (p.Leu1237Val)
c.2722+609C>G
c.4060C>G (p.Leu1354Val)
c.3039C>G
n.3344C>G
n.4167C>G
c.4177C>G (p.Leu1393Val)
c.4156C>G (p.Leu1386Val)
c.4138C>G (p.Leu1380Val)
c.4120C>G (p.Leu1374Val)
c.4081C>G (p.Leu1361Val)
c.4042C>G (p.Leu1348Val)
c.3766C>G (p.Leu1256Val)
c.3727C>G (p.Leu1243Val)
c.4117C>G (p.Leu1373Val)
c.4024C>G (p.Leu1342Val)
c.3499C>G (p.Leu1167Val)
c.3814C>G (p.Leu1272Val)
n.8386C>G
3g.9475765C>TCA351693617SETD5n.2958C>T
c.4099C>T (p.Leu1367Phe)
n.4992C>T
n.2383C>T
n.6245C>T
c.4003C>T (p.Leu1335Phe)
c.*4149C>T (n.*4149C>T)
c.*4072C>T (n.*4072C>T)
c.*4377C>T (n.*4377C>T)
c.*4108C>T (n.*4108C>T)
c.3709C>T (p.Leu1237Phe)
c.2722+609C>T
c.4060C>T (p.Leu1354Phe)
c.3039C>T
n.3344C>T
n.4167C>T
c.4177C>T (p.Leu1393Phe)
c.4156C>T (p.Leu1386Phe)
c.4138C>T (p.Leu1380Phe)
c.4120C>T (p.Leu1374Phe)
c.4081C>T (p.Leu1361Phe)
c.4042C>T (p.Leu1348Phe)
c.3766C>T (p.Leu1256Phe)
c.3727C>T (p.Leu1243Phe)
c.4117C>T (p.Leu1373Phe)
c.4024C>T (p.Leu1342Phe)
c.3499C>T (p.Leu1167Phe)
c.3814C>T (p.Leu1272Phe)
n.8386C>T
 dbSNP gnomAD v2
3g.9475766T>ACA351693624SETD5n.2959T>A
c.4100T>A (p.Leu1367His)
n.4993T>A
n.2384T>A
n.6246T>A
c.4004T>A (p.Leu1335His)
c.*4150T>A (n.*4150T>A)
c.*4073T>A (n.*4073T>A)
c.*4378T>A (n.*4378T>A)
c.*4109T>A (n.*4109T>A)
c.3710T>A (p.Leu1237His)
c.2722+610T>A
c.4061T>A (p.Leu1354His)
c.3040T>A
n.3345T>A
n.4168T>A
c.4178T>A (p.Leu1393His)
c.4157T>A (p.Leu1386His)
c.4139T>A (p.Leu1380His)
c.4121T>A (p.Leu1374His)
c.4082T>A (p.Leu1361His)
c.4043T>A (p.Leu1348His)
c.3767T>A (p.Leu1256His)
c.3728T>A (p.Leu1243His)
c.4118T>A (p.Leu1373His)
c.4025T>A (p.Leu1342His)
c.3500T>A (p.Leu1167His)
c.3815T>A (p.Leu1272His)
n.8387T>A
3g.9475766T>CCA351693631SETD5n.2959T>C
c.4100T>C (p.Leu1367Pro)
n.4993T>C
n.2384T>C
n.6246T>C
c.4004T>C (p.Leu1335Pro)
c.*4150T>C (n.*4150T>C)
c.*4073T>C (n.*4073T>C)
c.*4378T>C (n.*4378T>C)
c.*4109T>C (n.*4109T>C)
c.3710T>C (p.Leu1237Pro)
c.2722+610T>C
c.4061T>C (p.Leu1354Pro)
c.3040T>C
n.3345T>C
n.4168T>C
c.4178T>C (p.Leu1393Pro)
c.4157T>C (p.Leu1386Pro)
c.4139T>C (p.Leu1380Pro)
c.4121T>C (p.Leu1374Pro)
c.4082T>C (p.Leu1361Pro)
c.4043T>C (p.Leu1348Pro)
c.3767T>C (p.Leu1256Pro)
c.3728T>C (p.Leu1243Pro)
c.4118T>C (p.Leu1373Pro)
c.4025T>C (p.Leu1342Pro)
c.3500T>C (p.Leu1167Pro)
c.3815T>C (p.Leu1272Pro)
n.8387T>C
3g.9475766T>GCA351693627SETD5n.2959T>G
c.4100T>G (p.Leu1367Arg)
n.4993T>G
n.2384T>G
n.6246T>G
c.4004T>G (p.Leu1335Arg)
c.*4150T>G (n.*4150T>G)
c.*4073T>G (n.*4073T>G)
c.*4378T>G (n.*4378T>G)
c.*4109T>G (n.*4109T>G)
c.3710T>G (p.Leu1237Arg)
c.2722+610T>G
c.4061T>G (p.Leu1354Arg)
c.3040T>G
n.3345T>G
n.4168T>G
c.4178T>G (p.Leu1393Arg)
c.4157T>G (p.Leu1386Arg)
c.4139T>G (p.Leu1380Arg)
c.4121T>G (p.Leu1374Arg)
c.4082T>G (p.Leu1361Arg)
c.4043T>G (p.Leu1348Arg)
c.3767T>G (p.Leu1256Arg)
c.3728T>G (p.Leu1243Arg)
c.4118T>G (p.Leu1373Arg)
c.4025T>G (p.Leu1342Arg)
c.3500T>G (p.Leu1167Arg)
c.3815T>G (p.Leu1272Arg)
n.8387T>G
3g.9475767T>ACA432528482SETD5n.2960T>A
c.4101T>A (p.Leu1367=)
n.4994T>A
n.2385T>A
n.6247T>A
c.4005T>A (p.Leu1335=)
c.*4151T>A (n.*4151T>A)
c.*4074T>A (n.*4074T>A)
c.*4379T>A (n.*4379T>A)
c.*4110T>A (n.*4110T>A)
c.3711T>A (p.Leu1237=)
c.2722+611T>A
c.4062T>A (p.Leu1354=)
c.3041T>A
n.3346T>A
n.4169T>A
c.4179T>A (p.Leu1393=)
c.4158T>A (p.Leu1386=)
c.4140T>A (p.Leu1380=)
c.4122T>A (p.Leu1374=)
c.4083T>A (p.Leu1361=)
c.4044T>A (p.Leu1348=)
c.3768T>A (p.Leu1256=)
c.3729T>A (p.Leu1243=)
c.4119T>A (p.Leu1373=)
c.4026T>A (p.Leu1342=)
c.3501T>A (p.Leu1167=)
c.3816T>A (p.Leu1272=)
n.8388T>A
3g.9475767T>CCA432528483SETD5n.2960T>C
c.4101T>C (p.Leu1367=)
n.4994T>C
n.2385T>C
n.6247T>C
c.4005T>C (p.Leu1335=)
c.*4151T>C (n.*4151T>C)
c.*4074T>C (n.*4074T>C)
c.*4379T>C (n.*4379T>C)
c.*4110T>C (n.*4110T>C)
c.3711T>C (p.Leu1237=)
c.2722+611T>C
c.4062T>C (p.Leu1354=)
c.3041T>C
n.3346T>C
n.4169T>C
c.4179T>C (p.Leu1393=)
c.4158T>C (p.Leu1386=)
c.4140T>C (p.Leu1380=)
c.4122T>C (p.Leu1374=)
c.4083T>C (p.Leu1361=)
c.4044T>C (p.Leu1348=)
c.3768T>C (p.Leu1256=)
c.3729T>C (p.Leu1243=)
c.4119T>C (p.Leu1373=)
c.4026T>C (p.Leu1342=)
c.3501T>C (p.Leu1167=)
c.3816T>C (p.Leu1272=)
n.8388T>C
3g.9475767T>GCA432528484SETD5n.2960T>G
c.4101T>G (p.Leu1367=)
n.4994T>G
n.2385T>G
n.6247T>G
c.4005T>G (p.Leu1335=)
c.*4151T>G (n.*4151T>G)
c.*4074T>G (n.*4074T>G)
c.*4379T>G (n.*4379T>G)
c.*4110T>G (n.*4110T>G)
c.3711T>G (p.Leu1237=)
c.2722+611T>G
c.4062T>G (p.Leu1354=)
c.3041T>G
n.3346T>G
n.4169T>G
c.4179T>G (p.Leu1393=)
c.4158T>G (p.Leu1386=)
c.4140T>G (p.Leu1380=)
c.4122T>G (p.Leu1374=)
c.4083T>G (p.Leu1361=)
c.4044T>G (p.Leu1348=)
c.3768T>G (p.Leu1256=)
c.3729T>G (p.Leu1243=)
c.4119T>G (p.Leu1373=)
c.4026T>G (p.Leu1342=)
c.3501T>G (p.Leu1167=)
c.3816T>G (p.Leu1272=)
n.8388T>G
3g.9475768C>ACA351693637SETD5n.2961C>A
c.4102C>A (p.Pro1368Thr)
n.4995C>A
n.2386C>A
n.6248C>A
c.4006C>A (p.Pro1336Thr)
c.*4152C>A (n.*4152C>A)
c.*4075C>A (n.*4075C>A)
c.*4380C>A (n.*4380C>A)
c.*4111C>A (n.*4111C>A)
c.3712C>A (p.Pro1238Thr)
c.2722+612C>A
c.4063C>A (p.Pro1355Thr)
c.3042C>A
n.3347C>A
n.4170C>A
c.4180C>A (p.Pro1394Thr)
c.4159C>A (p.Pro1387Thr)
c.4141C>A (p.Pro1381Thr)
c.4123C>A (p.Pro1375Thr)
c.4084C>A (p.Pro1362Thr)
c.4045C>A (p.Pro1349Thr)
c.3769C>A (p.Pro1257Thr)
c.3730C>A (p.Pro1244Thr)
c.4120C>A (p.Pro1374Thr)
c.4027C>A (p.Pro1343Thr)
c.3502C>A (p.Pro1168Thr)
c.3817C>A (p.Pro1273Thr)
n.8389C>A
3g.9475768C=CA1344742794SETD5n.2961C=
c.4102C= (p.Pro1368=)
n.4995C=
n.2386C=
n.6248C=
c.4006C= (p.Pro1336=)
c.*4152C= (n.*4152C=)
c.*4075C= (n.*4075C=)
c.*4380C= (n.*4380C=)
c.*4111C= (n.*4111C=)
c.3712C= (p.Pro1238=)
c.2722+612C=
c.4063C= (p.Pro1355=)
c.3042C=
n.3347C=
n.4170C=
c.4180C= (p.Pro1394=)
c.4159C= (p.Pro1387=)
c.4141C= (p.Pro1381=)
c.4123C= (p.Pro1375=)
c.4084C= (p.Pro1362=)
c.4045C= (p.Pro1349=)
c.3769C= (p.Pro1257=)
c.3730C= (p.Pro1244=)
c.4120C= (p.Pro1374=)
c.4027C= (p.Pro1343=)
c.3502C= (p.Pro1168=)
c.3817C= (p.Pro1273=)
n.8389C=
3g.9475768C>GCA351693640SETD5n.2961C>G
c.4102C>G (p.Pro1368Ala)
n.4995C>G
n.2386C>G
n.6248C>G
c.4006C>G (p.Pro1336Ala)
c.*4152C>G (n.*4152C>G)
c.*4075C>G (n.*4075C>G)
c.*4380C>G (n.*4380C>G)
c.*4111C>G (n.*4111C>G)
c.3712C>G (p.Pro1238Ala)
c.2722+612C>G
c.4063C>G (p.Pro1355Ala)
c.3042C>G
n.3347C>G
n.4170C>G
c.4180C>G (p.Pro1394Ala)
c.4159C>G (p.Pro1387Ala)
c.4141C>G (p.Pro1381Ala)
c.4123C>G (p.Pro1375Ala)
c.4084C>G (p.Pro1362Ala)
c.4045C>G (p.Pro1349Ala)
c.3769C>G (p.Pro1257Ala)
c.3730C>G (p.Pro1244Ala)
c.4120C>G (p.Pro1374Ala)
c.4027C>G (p.Pro1343Ala)
c.3502C>G (p.Pro1168Ala)
c.3817C>G (p.Pro1273Ala)
n.8389C>G
 dbSNP gnomAD v2 gnomAD v4
3g.9475768C>TCA2239848SETD5n.2961C>T
c.4102C>T (p.Pro1368Ser)
n.4995C>T
n.2386C>T
n.6248C>T
c.4006C>T (p.Pro1336Ser)
c.*4152C>T (n.*4152C>T)
c.*4075C>T (n.*4075C>T)
c.*4380C>T (n.*4380C>T)
c.*4111C>T (n.*4111C>T)
c.3712C>T (p.Pro1238Ser)
c.2722+612C>T
c.4063C>T (p.Pro1355Ser)
c.3042C>T
n.3347C>T
n.4170C>T
c.4180C>T (p.Pro1394Ser)
c.4159C>T (p.Pro1387Ser)
c.4141C>T (p.Pro1381Ser)
c.4123C>T (p.Pro1375Ser)
c.4084C>T (p.Pro1362Ser)
c.4045C>T (p.Pro1349Ser)
c.3769C>T (p.Pro1257Ser)
c.3730C>T (p.Pro1244Ser)
c.4120C>T (p.Pro1374Ser)
c.4027C>T (p.Pro1343Ser)
c.3502C>T (p.Pro1168Ser)
c.3817C>T (p.Pro1273Ser)
n.8389C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475769C>ACA351693651SETD5n.2962C>A
c.4103C>A (p.Pro1368Gln)
n.4996C>A
n.2387C>A
n.6249C>A
c.4007C>A (p.Pro1336Gln)
c.*4153C>A (n.*4153C>A)
c.*4076C>A (n.*4076C>A)
c.*4381C>A (n.*4381C>A)
c.*4112C>A (n.*4112C>A)
c.3713C>A (p.Pro1238Gln)
c.2722+613C>A
c.4064C>A (p.Pro1355Gln)
c.3043C>A
n.3348C>A
n.4171C>A
c.4181C>A (p.Pro1394Gln)
c.4160C>A (p.Pro1387Gln)
c.4142C>A (p.Pro1381Gln)
c.4124C>A (p.Pro1375Gln)
c.4085C>A (p.Pro1362Gln)
c.4046C>A (p.Pro1349Gln)
c.3770C>A (p.Pro1257Gln)
c.3731C>A (p.Pro1244Gln)
c.4121C>A (p.Pro1374Gln)
c.4028C>A (p.Pro1343Gln)
c.3503C>A (p.Pro1168Gln)
c.3818C>A (p.Pro1273Gln)
n.8390C>A
3g.9475769C=CA1344742795SETD5n.2962C=
c.4103C= (p.Pro1368=)
n.4996C=
n.2387C=
n.6249C=
c.4007C= (p.Pro1336=)
c.*4153C= (n.*4153C=)
c.*4076C= (n.*4076C=)
c.*4381C= (n.*4381C=)
c.*4112C= (n.*4112C=)
c.3713C= (p.Pro1238=)
c.2722+613C=
c.4064C= (p.Pro1355=)
c.3043C=
n.3348C=
n.4171C=
c.4181C= (p.Pro1394=)
c.4160C= (p.Pro1387=)
c.4142C= (p.Pro1381=)
c.4124C= (p.Pro1375=)
c.4085C= (p.Pro1362=)
c.4046C= (p.Pro1349=)
c.3770C= (p.Pro1257=)
c.3731C= (p.Pro1244=)
c.4121C= (p.Pro1374=)
c.4028C= (p.Pro1343=)
c.3503C= (p.Pro1168=)
c.3818C= (p.Pro1273=)
n.8390C=
3g.9475769C>GCA351693655SETD5n.2962C>G
c.4103C>G (p.Pro1368Arg)
n.4996C>G
n.2387C>G
n.6249C>G
c.4007C>G (p.Pro1336Arg)
c.*4153C>G (n.*4153C>G)
c.*4076C>G (n.*4076C>G)
c.*4381C>G (n.*4381C>G)
c.*4112C>G (n.*4112C>G)
c.3713C>G (p.Pro1238Arg)
c.2722+613C>G
c.4064C>G (p.Pro1355Arg)
c.3043C>G
n.3348C>G
n.4171C>G
c.4181C>G (p.Pro1394Arg)
c.4160C>G (p.Pro1387Arg)
c.4142C>G (p.Pro1381Arg)
c.4124C>G (p.Pro1375Arg)
c.4085C>G (p.Pro1362Arg)
c.4046C>G (p.Pro1349Arg)
c.3770C>G (p.Pro1257Arg)
c.3731C>G (p.Pro1244Arg)
c.4121C>G (p.Pro1374Arg)
c.4028C>G (p.Pro1343Arg)
c.3503C>G (p.Pro1168Arg)
c.3818C>G (p.Pro1273Arg)
n.8390C>G
3g.9475769C>TCA2239849SETD5n.2962C>T
c.4103C>T (p.Pro1368Leu)
n.4996C>T
n.2387C>T
n.6249C>T
c.4007C>T (p.Pro1336Leu)
c.*4153C>T (n.*4153C>T)
c.*4076C>T (n.*4076C>T)
c.*4381C>T (n.*4381C>T)
c.*4112C>T (n.*4112C>T)
c.3713C>T (p.Pro1238Leu)
c.2722+613C>T
c.4064C>T (p.Pro1355Leu)
c.3043C>T
n.3348C>T
n.4171C>T
c.4181C>T (p.Pro1394Leu)
c.4160C>T (p.Pro1387Leu)
c.4142C>T (p.Pro1381Leu)
c.4124C>T (p.Pro1375Leu)
c.4085C>T (p.Pro1362Leu)
c.4046C>T (p.Pro1349Leu)
c.3770C>T (p.Pro1257Leu)
c.3731C>T (p.Pro1244Leu)
c.4121C>T (p.Pro1374Leu)
c.4028C>T (p.Pro1343Leu)
c.3503C>T (p.Pro1168Leu)
c.3818C>T (p.Pro1273Leu)
n.8390C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475770A>CCA432528489SETD5n.2963A>C
c.4104A>C (p.Pro1368=)
n.4997A>C
n.2388A>C
n.6250A>C
c.4008A>C (p.Pro1336=)
c.*4154A>C (n.*4154A>C)
c.*4077A>C (n.*4077A>C)
c.*4382A>C (n.*4382A>C)
c.*4113A>C (n.*4113A>C)
c.3714A>C (p.Pro1238=)
c.2722+614A>C
c.4065A>C (p.Pro1355=)
c.3044A>C
n.3349A>C
n.4172A>C
c.4182A>C (p.Pro1394=)
c.4161A>C (p.Pro1387=)
c.4143A>C (p.Pro1381=)
c.4125A>C (p.Pro1375=)
c.4086A>C (p.Pro1362=)
c.4047A>C (p.Pro1349=)
c.3771A>C (p.Pro1257=)
c.3732A>C (p.Pro1244=)
c.4122A>C (p.Pro1374=)
c.4029A>C (p.Pro1343=)
c.3504A>C (p.Pro1168=)
c.3819A>C (p.Pro1273=)
n.8391A>C
3g.9475770A>GCA432528491SETD5n.2963A>G
c.4104A>G (p.Pro1368=)
n.4997A>G
n.2388A>G
n.6250A>G
c.4008A>G (p.Pro1336=)
c.*4154A>G (n.*4154A>G)
c.*4077A>G (n.*4077A>G)
c.*4382A>G (n.*4382A>G)
c.*4113A>G (n.*4113A>G)
c.3714A>G (p.Pro1238=)
c.2722+614A>G
c.4065A>G (p.Pro1355=)
c.3044A>G
n.3349A>G
n.4172A>G
c.4182A>G (p.Pro1394=)
c.4161A>G (p.Pro1387=)
c.4143A>G (p.Pro1381=)
c.4125A>G (p.Pro1375=)
c.4086A>G (p.Pro1362=)
c.4047A>G (p.Pro1349=)
c.3771A>G (p.Pro1257=)
c.3732A>G (p.Pro1244=)
c.4122A>G (p.Pro1374=)
c.4029A>G (p.Pro1343=)
c.3504A>G (p.Pro1168=)
c.3819A>G (p.Pro1273=)
n.8391A>G
3g.9475770A>TCA432528493SETD5n.2963A>T
c.4104A>T (p.Pro1368=)
n.4997A>T
n.2388A>T
n.6250A>T
c.4008A>T (p.Pro1336=)
c.*4154A>T (n.*4154A>T)
c.*4077A>T (n.*4077A>T)
c.*4382A>T (n.*4382A>T)
c.*4113A>T (n.*4113A>T)
c.3714A>T (p.Pro1238=)
c.2722+614A>T
c.4065A>T (p.Pro1355=)
c.3044A>T
n.3349A>T
n.4172A>T
c.4182A>T (p.Pro1394=)
c.4161A>T (p.Pro1387=)
c.4143A>T (p.Pro1381=)
c.4125A>T (p.Pro1375=)
c.4086A>T (p.Pro1362=)
c.4047A>T (p.Pro1349=)
c.3771A>T (p.Pro1257=)
c.3732A>T (p.Pro1244=)
c.4122A>T (p.Pro1374=)
c.4029A>T (p.Pro1343=)
c.3504A>T (p.Pro1168=)
c.3819A>T (p.Pro1273=)
n.8391A>T
3g.9475771A>CCA432528495SETD5n.2964A>C
c.4105A>C (p.Arg1369=)
n.4998A>C
n.2389A>C
n.6251A>C
c.4009A>C (p.Arg1337=)
c.*4155A>C (n.*4155A>C)
c.*4078A>C (n.*4078A>C)
c.*4383A>C (n.*4383A>C)
c.*4114A>C (n.*4114A>C)
c.3715A>C (p.Arg1239=)
c.2722+615A>C
c.4066A>C (p.Arg1356=)
c.3045A>C
n.3350A>C
n.4173A>C
c.4183A>C (p.Arg1395=)
c.4162A>C (p.Arg1388=)
c.4144A>C (p.Arg1382=)
c.4126A>C (p.Arg1376=)
c.4087A>C (p.Arg1363=)
c.4048A>C (p.Arg1350=)
c.3772A>C (p.Arg1258=)
c.3733A>C (p.Arg1245=)
c.4123A>C (p.Arg1375=)
c.4030A>C (p.Arg1344=)
c.3505A>C (p.Arg1169=)
c.3820A>C (p.Arg1274=)
n.8392A>C
3g.9475771A>GCA351693663SETD5n.2964A>G
c.4105A>G (p.Arg1369Gly)
n.4998A>G
n.2389A>G
n.6251A>G
c.4009A>G (p.Arg1337Gly)
c.*4155A>G (n.*4155A>G)
c.*4078A>G (n.*4078A>G)
c.*4383A>G (n.*4383A>G)
c.*4114A>G (n.*4114A>G)
c.3715A>G (p.Arg1239Gly)
c.2722+615A>G
c.4066A>G (p.Arg1356Gly)
c.3045A>G
n.3350A>G
n.4173A>G
c.4183A>G (p.Arg1395Gly)
c.4162A>G (p.Arg1388Gly)
c.4144A>G (p.Arg1382Gly)
c.4126A>G (p.Arg1376Gly)
c.4087A>G (p.Arg1363Gly)
c.4048A>G (p.Arg1350Gly)
c.3772A>G (p.Arg1258Gly)
c.3733A>G (p.Arg1245Gly)
c.4123A>G (p.Arg1375Gly)
c.4030A>G (p.Arg1344Gly)
c.3505A>G (p.Arg1169Gly)
c.3820A>G (p.Arg1274Gly)
n.8392A>G
3g.9475771A>TCA351693667SETD5n.2964A>T
c.4105A>T (p.Arg1369Trp)
n.4998A>T
n.2389A>T
n.6251A>T
c.4009A>T (p.Arg1337Trp)
c.*4155A>T (n.*4155A>T)
c.*4078A>T (n.*4078A>T)
c.*4383A>T (n.*4383A>T)
c.*4114A>T (n.*4114A>T)
c.3715A>T (p.Arg1239Trp)
c.2722+615A>T
c.4066A>T (p.Arg1356Trp)
c.3045A>T
n.3350A>T
n.4173A>T
c.4183A>T (p.Arg1395Trp)
c.4162A>T (p.Arg1388Trp)
c.4144A>T (p.Arg1382Trp)
c.4126A>T (p.Arg1376Trp)
c.4087A>T (p.Arg1363Trp)
c.4048A>T (p.Arg1350Trp)
c.3772A>T (p.Arg1258Trp)
c.3733A>T (p.Arg1245Trp)
c.4123A>T (p.Arg1375Trp)
c.4030A>T (p.Arg1344Trp)
c.3505A>T (p.Arg1169Trp)
c.3820A>T (p.Arg1274Trp)
n.8392A>T
3g.9475772G>ACA351693671SETD5n.2965G>A
c.4106G>A (p.Arg1369Lys)
n.4999G>A
n.2390G>A
n.6252G>A
c.4010G>A (p.Arg1337Lys)
c.*4156G>A (n.*4156G>A)
c.*4079G>A (n.*4079G>A)
c.*4384G>A (n.*4384G>A)
c.*4115G>A (n.*4115G>A)
c.3716G>A (p.Arg1239Lys)
c.2722+616G>A
c.4067G>A (p.Arg1356Lys)
c.3046G>A
n.3351G>A
n.4174G>A
c.4184G>A (p.Arg1395Lys)
c.4163G>A (p.Arg1388Lys)
c.4145G>A (p.Arg1382Lys)
c.4127G>A (p.Arg1376Lys)
c.4088G>A (p.Arg1363Lys)
c.4049G>A (p.Arg1350Lys)
c.3773G>A (p.Arg1258Lys)
c.3734G>A (p.Arg1245Lys)
c.4124G>A (p.Arg1375Lys)
c.4031G>A (p.Arg1344Lys)
c.3506G>A (p.Arg1169Lys)
c.3821G>A (p.Arg1274Lys)
n.8393G>A
 gnomAD v4
3g.9475772G>CCA351693675SETD5n.2965G>C
c.4106G>C (p.Arg1369Thr)
n.4999G>C
n.2390G>C
n.6252G>C
c.4010G>C (p.Arg1337Thr)
c.*4156G>C (n.*4156G>C)
c.*4079G>C (n.*4079G>C)
c.*4384G>C (n.*4384G>C)
c.*4115G>C (n.*4115G>C)
c.3716G>C (p.Arg1239Thr)
c.2722+616G>C
c.4067G>C (p.Arg1356Thr)
c.3046G>C
n.3351G>C
n.4174G>C
c.4184G>C (p.Arg1395Thr)
c.4163G>C (p.Arg1388Thr)
c.4145G>C (p.Arg1382Thr)
c.4127G>C (p.Arg1376Thr)
c.4088G>C (p.Arg1363Thr)
c.4049G>C (p.Arg1350Thr)
c.3773G>C (p.Arg1258Thr)
c.3734G>C (p.Arg1245Thr)
c.4124G>C (p.Arg1375Thr)
c.4031G>C (p.Arg1344Thr)
c.3506G>C (p.Arg1169Thr)
c.3821G>C (p.Arg1274Thr)
n.8393G>C
3g.9475772G>TCA351693680SETD5n.2965G>T
c.4106G>T (p.Arg1369Met)
n.4999G>T
n.2390G>T
n.6252G>T
c.4010G>T (p.Arg1337Met)
c.*4156G>T (n.*4156G>T)
c.*4079G>T (n.*4079G>T)
c.*4384G>T (n.*4384G>T)
c.*4115G>T (n.*4115G>T)
c.3716G>T (p.Arg1239Met)
c.2722+616G>T
c.4067G>T (p.Arg1356Met)
c.3046G>T
n.3351G>T
n.4174G>T
c.4184G>T (p.Arg1395Met)
c.4163G>T (p.Arg1388Met)
c.4145G>T (p.Arg1382Met)
c.4127G>T (p.Arg1376Met)
c.4088G>T (p.Arg1363Met)
c.4049G>T (p.Arg1350Met)
c.3773G>T (p.Arg1258Met)
c.3734G>T (p.Arg1245Met)
c.4124G>T (p.Arg1375Met)
c.4031G>T (p.Arg1344Met)
c.3506G>T (p.Arg1169Met)
c.3821G>T (p.Arg1274Met)
n.8393G>T
3g.9475773G>ACA432528498SETD5n.2966G>A
c.4107G>A (p.Arg1369=)
n.5000G>A
n.2391G>A
n.6253G>A
c.4011G>A (p.Arg1337=)
c.*4157G>A (n.*4157G>A)
c.*4080G>A (n.*4080G>A)
c.*4385G>A (n.*4385G>A)
c.*4116G>A (n.*4116G>A)
c.3717G>A (p.Arg1239=)
c.2722+617G>A
c.4068G>A (p.Arg1356=)
c.3047G>A
n.3352G>A
n.4175G>A
c.4185G>A (p.Arg1395=)
c.4164G>A (p.Arg1388=)
c.4146G>A (p.Arg1382=)
c.4128G>A (p.Arg1376=)
c.4089G>A (p.Arg1363=)
c.4050G>A (p.Arg1350=)
c.3774G>A (p.Arg1258=)
c.3735G>A (p.Arg1245=)
c.4125G>A (p.Arg1375=)
c.4032G>A (p.Arg1344=)
c.3507G>A (p.Arg1169=)
c.3822G>A (p.Arg1274=)
n.8394G>A
3g.9475773G>CCA351693684SETD5n.2966G>C
c.4107G>C (p.Arg1369Ser)
n.5000G>C
n.2391G>C
n.6253G>C
c.4011G>C (p.Arg1337Ser)
c.*4157G>C (n.*4157G>C)
c.*4080G>C (n.*4080G>C)
c.*4385G>C (n.*4385G>C)
c.*4116G>C (n.*4116G>C)
c.3717G>C (p.Arg1239Ser)
c.2722+617G>C
c.4068G>C (p.Arg1356Ser)
c.3047G>C
n.3352G>C
n.4175G>C
c.4185G>C (p.Arg1395Ser)
c.4164G>C (p.Arg1388Ser)
c.4146G>C (p.Arg1382Ser)
c.4128G>C (p.Arg1376Ser)
c.4089G>C (p.Arg1363Ser)
c.4050G>C (p.Arg1350Ser)
c.3774G>C (p.Arg1258Ser)
c.3735G>C (p.Arg1245Ser)
c.4125G>C (p.Arg1375Ser)
c.4032G>C (p.Arg1344Ser)
c.3507G>C (p.Arg1169Ser)
c.3822G>C (p.Arg1274Ser)
n.8394G>C
 dbSNP gnomAD v3 gnomAD v4
3g.9475773G=CA1344742796SETD5n.2966G=
c.4107G= (p.Arg1369=)
n.5000G=
n.2391G=
n.6253G=
c.4011G= (p.Arg1337=)
c.*4157G= (n.*4157G=)
c.*4080G= (n.*4080G=)
c.*4385G= (n.*4385G=)
c.*4116G= (n.*4116G=)
c.3717G= (p.Arg1239=)
c.2722+617G=
c.4068G= (p.Arg1356=)
c.3047G=
n.3352G=
n.4175G=
c.4185G= (p.Arg1395=)
c.4164G= (p.Arg1388=)
c.4146G= (p.Arg1382=)
c.4128G= (p.Arg1376=)
c.4089G= (p.Arg1363=)
c.4050G= (p.Arg1350=)
c.3774G= (p.Arg1258=)
c.3735G= (p.Arg1245=)
c.4125G= (p.Arg1375=)
c.4032G= (p.Arg1344=)
c.3507G= (p.Arg1169=)
c.3822G= (p.Arg1274=)
n.8394G=
3g.9475773G>TCA351693687SETD5n.2966G>T
c.4107G>T (p.Arg1369Ser)
n.5000G>T
n.2391G>T
n.6253G>T
c.4011G>T (p.Arg1337Ser)
c.*4157G>T (n.*4157G>T)
c.*4080G>T (n.*4080G>T)
c.*4385G>T (n.*4385G>T)
c.*4116G>T (n.*4116G>T)
c.3717G>T (p.Arg1239Ser)
c.2722+617G>T
c.4068G>T (p.Arg1356Ser)
c.3047G>T
n.3352G>T
n.4175G>T
c.4185G>T (p.Arg1395Ser)
c.4164G>T (p.Arg1388Ser)
c.4146G>T (p.Arg1382Ser)
c.4128G>T (p.Arg1376Ser)
c.4089G>T (p.Arg1363Ser)
c.4050G>T (p.Arg1350Ser)
c.3774G>T (p.Arg1258Ser)
c.3735G>T (p.Arg1245Ser)
c.4125G>T (p.Arg1375Ser)
c.4032G>T (p.Arg1344Ser)
c.3507G>T (p.Arg1169Ser)
c.3822G>T (p.Arg1274Ser)
n.8394G>T
3g.9475774A>CCA432528502SETD5n.2967A>C
c.4108A>C (p.Arg1370=)
n.5001A>C
n.2392A>C
n.6254A>C
c.4012A>C (p.Arg1338=)
c.*4158A>C (n.*4158A>C)
c.*4081A>C (n.*4081A>C)
c.*4386A>C (n.*4386A>C)
c.*4117A>C (n.*4117A>C)
c.3718A>C (p.Arg1240=)
c.2722+618A>C
c.4069A>C (p.Arg1357=)
c.3048A>C
n.3353A>C
n.4176A>C
c.4186A>C (p.Arg1396=)
c.4165A>C (p.Arg1389=)
c.4147A>C (p.Arg1383=)
c.4129A>C (p.Arg1377=)
c.4090A>C (p.Arg1364=)
c.4051A>C (p.Arg1351=)
c.3775A>C (p.Arg1259=)
c.3736A>C (p.Arg1246=)
c.4126A>C (p.Arg1376=)
c.4033A>C (p.Arg1345=)
c.3508A>C (p.Arg1170=)
c.3823A>C (p.Arg1275=)
n.8395A>C
3g.9475774A>GCA351693691SETD5n.2967A>G
c.4108A>G (p.Arg1370Gly)
n.5001A>G
n.2392A>G
n.6254A>G
c.4012A>G (p.Arg1338Gly)
c.*4158A>G (n.*4158A>G)
c.*4081A>G (n.*4081A>G)
c.*4386A>G (n.*4386A>G)
c.*4117A>G (n.*4117A>G)
c.3718A>G (p.Arg1240Gly)
c.2722+618A>G
c.4069A>G (p.Arg1357Gly)
c.3048A>G
n.3353A>G
n.4176A>G
c.4186A>G (p.Arg1396Gly)
c.4165A>G (p.Arg1389Gly)
c.4147A>G (p.Arg1383Gly)
c.4129A>G (p.Arg1377Gly)
c.4090A>G (p.Arg1364Gly)
c.4051A>G (p.Arg1351Gly)
c.3775A>G (p.Arg1259Gly)
c.3736A>G (p.Arg1246Gly)
c.4126A>G (p.Arg1376Gly)
c.4033A>G (p.Arg1345Gly)
c.3508A>G (p.Arg1170Gly)
c.3823A>G (p.Arg1275Gly)
n.8395A>G
3g.9475774A>TCA351693694SETD5n.2967A>T
c.4108A>T (p.Arg1370Trp)
n.5001A>T
n.2392A>T
n.6254A>T
c.4012A>T (p.Arg1338Trp)
c.*4158A>T (n.*4158A>T)
c.*4081A>T (n.*4081A>T)
c.*4386A>T (n.*4386A>T)
c.*4117A>T (n.*4117A>T)
c.3718A>T (p.Arg1240Trp)
c.2722+618A>T
c.4069A>T (p.Arg1357Trp)
c.3048A>T
n.3353A>T
n.4176A>T
c.4186A>T (p.Arg1396Trp)
c.4165A>T (p.Arg1389Trp)
c.4147A>T (p.Arg1383Trp)
c.4129A>T (p.Arg1377Trp)
c.4090A>T (p.Arg1364Trp)
c.4051A>T (p.Arg1351Trp)
c.3775A>T (p.Arg1259Trp)
c.3736A>T (p.Arg1246Trp)
c.4126A>T (p.Arg1376Trp)
c.4033A>T (p.Arg1345Trp)
c.3508A>T (p.Arg1170Trp)
c.3823A>T (p.Arg1275Trp)
n.8395A>T
3g.9475775G>ACA2239850SETD5n.2968G>A
c.4109G>A (p.Arg1370Lys)
n.5002G>A
n.2393G>A
n.6255G>A
c.4013G>A (p.Arg1338Lys)
c.*4159G>A (n.*4159G>A)
c.*4082G>A (n.*4082G>A)
c.*4387G>A (n.*4387G>A)
c.*4118G>A (n.*4118G>A)
c.3719G>A (p.Arg1240Lys)
c.2722+619G>A
c.4070G>A (p.Arg1357Lys)
c.3049G>A
n.3354G>A
n.4177G>A
c.4187G>A (p.Arg1396Lys)
c.4166G>A (p.Arg1389Lys)
c.4148G>A (p.Arg1383Lys)
c.4130G>A (p.Arg1377Lys)
c.4091G>A (p.Arg1364Lys)
c.4052G>A (p.Arg1351Lys)
c.3776G>A (p.Arg1259Lys)
c.3737G>A (p.Arg1246Lys)
c.4127G>A (p.Arg1376Lys)
c.4034G>A (p.Arg1345Lys)
c.3509G>A (p.Arg1170Lys)
c.3824G>A (p.Arg1275Lys)
n.8396G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475775G>CCA351693699SETD5n.2968G>C
c.4109G>C (p.Arg1370Thr)
n.5002G>C
n.2393G>C
n.6255G>C
c.4013G>C (p.Arg1338Thr)
c.*4159G>C (n.*4159G>C)
c.*4082G>C (n.*4082G>C)
c.*4387G>C (n.*4387G>C)
c.*4118G>C (n.*4118G>C)
c.3719G>C (p.Arg1240Thr)
c.2722+619G>C
c.4070G>C (p.Arg1357Thr)
c.3049G>C
n.3354G>C
n.4177G>C
c.4187G>C (p.Arg1396Thr)
c.4166G>C (p.Arg1389Thr)
c.4148G>C (p.Arg1383Thr)
c.4130G>C (p.Arg1377Thr)
c.4091G>C (p.Arg1364Thr)
c.4052G>C (p.Arg1351Thr)
c.3776G>C (p.Arg1259Thr)
c.3737G>C (p.Arg1246Thr)
c.4127G>C (p.Arg1376Thr)
c.4034G>C (p.Arg1345Thr)
c.3509G>C (p.Arg1170Thr)
c.3824G>C (p.Arg1275Thr)
n.8396G>C
3g.9475775G=CA1344742797SETD5n.2968G=
c.4109G= (p.Arg1370=)
n.5002G=
n.2393G=
n.6255G=
c.4013G= (p.Arg1338=)
c.*4159G= (n.*4159G=)
c.*4082G= (n.*4082G=)
c.*4387G= (n.*4387G=)
c.*4118G= (n.*4118G=)
c.3719G= (p.Arg1240=)
c.2722+619G=
c.4070G= (p.Arg1357=)
c.3049G=
n.3354G=
n.4177G=
c.4187G= (p.Arg1396=)
c.4166G= (p.Arg1389=)
c.4148G= (p.Arg1383=)
c.4130G= (p.Arg1377=)
c.4091G= (p.Arg1364=)
c.4052G= (p.Arg1351=)
c.3776G= (p.Arg1259=)
c.3737G= (p.Arg1246=)
c.4127G= (p.Arg1376=)
c.4034G= (p.Arg1345=)
c.3509G= (p.Arg1170=)
c.3824G= (p.Arg1275=)
n.8396G=
3g.9475775G>TCA351693704SETD5n.2968G>T
c.4109G>T (p.Arg1370Met)
n.5002G>T
n.2393G>T
n.6255G>T
c.4013G>T (p.Arg1338Met)
c.*4159G>T (n.*4159G>T)
c.*4082G>T (n.*4082G>T)
c.*4387G>T (n.*4387G>T)
c.*4118G>T (n.*4118G>T)
c.3719G>T (p.Arg1240Met)
c.2722+619G>T
c.4070G>T (p.Arg1357Met)
c.3049G>T
n.3354G>T
n.4177G>T
c.4187G>T (p.Arg1396Met)
c.4166G>T (p.Arg1389Met)
c.4148G>T (p.Arg1383Met)
c.4130G>T (p.Arg1377Met)
c.4091G>T (p.Arg1364Met)
c.4052G>T (p.Arg1351Met)
c.3776G>T (p.Arg1259Met)
c.3737G>T (p.Arg1246Met)
c.4127G>T (p.Arg1376Met)
c.4034G>T (p.Arg1345Met)
c.3509G>T (p.Arg1170Met)
c.3824G>T (p.Arg1275Met)
n.8396G>T
3g.9475776G>ACA432528507SETD5n.2969G>A
c.4110G>A (p.Arg1370=)
n.5003G>A
n.2394G>A
n.6256G>A
c.4014G>A (p.Arg1338=)
c.*4160G>A (n.*4160G>A)
c.*4083G>A (n.*4083G>A)
c.*4388G>A (n.*4388G>A)
c.*4119G>A (n.*4119G>A)
c.3720G>A (p.Arg1240=)
c.2722+620G>A
c.4071G>A (p.Arg1357=)
c.3050G>A
n.3355G>A
n.4178G>A
c.4188G>A (p.Arg1396=)
c.4167G>A (p.Arg1389=)
c.4149G>A (p.Arg1383=)
c.4131G>A (p.Arg1377=)
c.4092G>A (p.Arg1364=)
c.4053G>A (p.Arg1351=)
c.3777G>A (p.Arg1259=)
c.3738G>A (p.Arg1246=)
c.4128G>A (p.Arg1376=)
c.4035G>A (p.Arg1345=)
c.3510G>A (p.Arg1170=)
c.3825G>A (p.Arg1275=)
n.8397G>A
3g.9475776G>CCA351693707SETD5n.2969G>C
c.4110G>C (p.Arg1370Ser)
n.5003G>C
n.2394G>C
n.6256G>C
c.4014G>C (p.Arg1338Ser)
c.*4160G>C (n.*4160G>C)
c.*4083G>C (n.*4083G>C)
c.*4388G>C (n.*4388G>C)
c.*4119G>C (n.*4119G>C)
c.3720G>C (p.Arg1240Ser)
c.2722+620G>C
c.4071G>C (p.Arg1357Ser)
c.3050G>C
n.3355G>C
n.4178G>C
c.4188G>C (p.Arg1396Ser)
c.4167G>C (p.Arg1389Ser)
c.4149G>C (p.Arg1383Ser)
c.4131G>C (p.Arg1377Ser)
c.4092G>C (p.Arg1364Ser)
c.4053G>C (p.Arg1351Ser)
c.3777G>C (p.Arg1259Ser)
c.3738G>C (p.Arg1246Ser)
c.4128G>C (p.Arg1376Ser)
c.4035G>C (p.Arg1345Ser)
c.3510G>C (p.Arg1170Ser)
c.3825G>C (p.Arg1275Ser)
n.8397G>C
 ClinVar dbSNP
3g.9475776G>TCA351693710SETD5n.2969G>T
c.4110G>T (p.Arg1370Ser)
n.5003G>T
n.2394G>T
n.6256G>T
c.4014G>T (p.Arg1338Ser)
c.*4160G>T (n.*4160G>T)
c.*4083G>T (n.*4083G>T)
c.*4388G>T (n.*4388G>T)
c.*4119G>T (n.*4119G>T)
c.3720G>T (p.Arg1240Ser)
c.2722+620G>T
c.4071G>T (p.Arg1357Ser)
c.3050G>T
n.3355G>T
n.4178G>T
c.4188G>T (p.Arg1396Ser)
c.4167G>T (p.Arg1389Ser)
c.4149G>T (p.Arg1383Ser)
c.4131G>T (p.Arg1377Ser)
c.4092G>T (p.Arg1364Ser)
c.4053G>T (p.Arg1351Ser)
c.3777G>T (p.Arg1259Ser)
c.3738G>T (p.Arg1246Ser)
c.4128G>T (p.Arg1376Ser)
c.4035G>T (p.Arg1345Ser)
c.3510G>T (p.Arg1170Ser)
c.3825G>T (p.Arg1275Ser)
n.8397G>T
3g.9475777A>CCA351693716SETD5n.2970A>C
c.4111A>C (p.Ser1371Arg)
n.5004A>C
n.2395A>C
n.6257A>C
c.4015A>C (p.Ser1339Arg)
c.*4161A>C (n.*4161A>C)
c.*4084A>C (n.*4084A>C)
c.*4389A>C (n.*4389A>C)
c.*4120A>C (n.*4120A>C)
c.3721A>C (p.Ser1241Arg)
c.2722+621A>C
c.4072A>C (p.Ser1358Arg)
c.3051A>C
n.3356A>C
n.4179A>C
c.4189A>C (p.Ser1397Arg)
c.4168A>C (p.Ser1390Arg)
c.4150A>C (p.Ser1384Arg)
c.4132A>C (p.Ser1378Arg)
c.4093A>C (p.Ser1365Arg)
c.4054A>C (p.Ser1352Arg)
c.3778A>C (p.Ser1260Arg)
c.3739A>C (p.Ser1247Arg)
c.4129A>C (p.Ser1377Arg)
c.4036A>C (p.Ser1346Arg)
c.3511A>C (p.Ser1171Arg)
c.3826A>C (p.Ser1276Arg)
n.8398A>C
3g.9475777A>GCA351693718SETD5n.2970A>G
c.4111A>G (p.Ser1371Gly)
n.5004A>G
n.2395A>G
n.6257A>G
c.4015A>G (p.Ser1339Gly)
c.*4161A>G (n.*4161A>G)
c.*4084A>G (n.*4084A>G)
c.*4389A>G (n.*4389A>G)
c.*4120A>G (n.*4120A>G)
c.3721A>G (p.Ser1241Gly)
c.2722+621A>G
c.4072A>G (p.Ser1358Gly)
c.3051A>G
n.3356A>G
n.4179A>G
c.4189A>G (p.Ser1397Gly)
c.4168A>G (p.Ser1390Gly)
c.4150A>G (p.Ser1384Gly)
c.4132A>G (p.Ser1378Gly)
c.4093A>G (p.Ser1365Gly)
c.4054A>G (p.Ser1352Gly)
c.3778A>G (p.Ser1260Gly)
c.3739A>G (p.Ser1247Gly)
c.4129A>G (p.Ser1377Gly)
c.4036A>G (p.Ser1346Gly)
c.3511A>G (p.Ser1171Gly)
c.3826A>G (p.Ser1276Gly)
n.8398A>G
 ClinVar
3g.9475777A>TCA351693720SETD5n.2970A>T
c.4111A>T (p.Ser1371Cys)
n.5004A>T
n.2395A>T
n.6257A>T
c.4015A>T (p.Ser1339Cys)
c.*4161A>T (n.*4161A>T)
c.*4084A>T (n.*4084A>T)
c.*4389A>T (n.*4389A>T)
c.*4120A>T (n.*4120A>T)
c.3721A>T (p.Ser1241Cys)
c.2722+621A>T
c.4072A>T (p.Ser1358Cys)
c.3051A>T
n.3356A>T
n.4179A>T
c.4189A>T (p.Ser1397Cys)
c.4168A>T (p.Ser1390Cys)
c.4150A>T (p.Ser1384Cys)
c.4132A>T (p.Ser1378Cys)
c.4093A>T (p.Ser1365Cys)
c.4054A>T (p.Ser1352Cys)
c.3778A>T (p.Ser1260Cys)
c.3739A>T (p.Ser1247Cys)
c.4129A>T (p.Ser1377Cys)
c.4036A>T (p.Ser1346Cys)
c.3511A>T (p.Ser1171Cys)
c.3826A>T (p.Ser1276Cys)
n.8398A>T
3g.9475778G>ACA351693738SETD5n.2971G>A
c.4112G>A (p.Ser1371Asn)
n.5005G>A
n.2396G>A
n.6258G>A
c.4016G>A (p.Ser1339Asn)
c.*4162G>A (n.*4162G>A)
c.*4085G>A (n.*4085G>A)
c.*4390G>A (n.*4390G>A)
c.*4121G>A (n.*4121G>A)
c.3722G>A (p.Ser1241Asn)
c.2722+622G>A
c.4073G>A (p.Ser1358Asn)
c.3052G>A
n.3357G>A
n.4180G>A
c.4190G>A (p.Ser1397Asn)
c.4169G>A (p.Ser1390Asn)
c.4151G>A (p.Ser1384Asn)
c.4133G>A (p.Ser1378Asn)
c.4094G>A (p.Ser1365Asn)
c.4055G>A (p.Ser1352Asn)
c.3779G>A (p.Ser1260Asn)
c.3740G>A (p.Ser1247Asn)
c.4130G>A (p.Ser1377Asn)
c.4037G>A (p.Ser1346Asn)
c.3512G>A (p.Ser1171Asn)
c.3827G>A (p.Ser1276Asn)
n.8399G>A
 gnomAD v4
3g.9475778G>CCA351693740SETD5n.2971G>C
c.4112G>C (p.Ser1371Thr)
n.5005G>C
n.2396G>C
n.6258G>C
c.4016G>C (p.Ser1339Thr)
c.*4162G>C (n.*4162G>C)
c.*4085G>C (n.*4085G>C)
c.*4390G>C (n.*4390G>C)
c.*4121G>C (n.*4121G>C)
c.3722G>C (p.Ser1241Thr)
c.2722+622G>C
c.4073G>C (p.Ser1358Thr)
c.3052G>C
n.3357G>C
n.4180G>C
c.4190G>C (p.Ser1397Thr)
c.4169G>C (p.Ser1390Thr)
c.4151G>C (p.Ser1384Thr)
c.4133G>C (p.Ser1378Thr)
c.4094G>C (p.Ser1365Thr)
c.4055G>C (p.Ser1352Thr)
c.3779G>C (p.Ser1260Thr)
c.3740G>C (p.Ser1247Thr)
c.4130G>C (p.Ser1377Thr)
c.4037G>C (p.Ser1346Thr)
c.3512G>C (p.Ser1171Thr)
c.3827G>C (p.Ser1276Thr)
n.8399G>C
3g.9475778G>TCA351693736SETD5n.2971G>T
c.4112G>T (p.Ser1371Ile)
n.5005G>T
n.2396G>T
n.6258G>T
c.4016G>T (p.Ser1339Ile)
c.*4162G>T (n.*4162G>T)
c.*4085G>T (n.*4085G>T)
c.*4390G>T (n.*4390G>T)
c.*4121G>T (n.*4121G>T)
c.3722G>T (p.Ser1241Ile)
c.2722+622G>T
c.4073G>T (p.Ser1358Ile)
c.3052G>T
n.3357G>T
n.4180G>T
c.4190G>T (p.Ser1397Ile)
c.4169G>T (p.Ser1390Ile)
c.4151G>T (p.Ser1384Ile)
c.4133G>T (p.Ser1378Ile)
c.4094G>T (p.Ser1365Ile)
c.4055G>T (p.Ser1352Ile)
c.3779G>T (p.Ser1260Ile)
c.3740G>T (p.Ser1247Ile)
c.4130G>T (p.Ser1377Ile)
c.4037G>T (p.Ser1346Ile)
c.3512G>T (p.Ser1171Ile)
c.3827G>T (p.Ser1276Ile)
n.8399G>T
3g.9475779C>ACA351693744SETD5n.2972C>A
c.4113C>A (p.Ser1371Arg)
n.5006C>A
n.2397C>A
n.6259C>A
c.4017C>A (p.Ser1339Arg)
c.*4163C>A (n.*4163C>A)
c.*4086C>A (n.*4086C>A)
c.*4391C>A (n.*4391C>A)
c.*4122C>A (n.*4122C>A)
c.3723C>A (p.Ser1241Arg)
c.2722+623C>A
c.4074C>A (p.Ser1358Arg)
c.3053C>A
n.3358C>A
n.4181C>A
c.4191C>A (p.Ser1397Arg)
c.4170C>A (p.Ser1390Arg)
c.4152C>A (p.Ser1384Arg)
c.4134C>A (p.Ser1378Arg)
c.4095C>A (p.Ser1365Arg)
c.4056C>A (p.Ser1352Arg)
c.3780C>A (p.Ser1260Arg)
c.3741C>A (p.Ser1247Arg)
c.4131C>A (p.Ser1377Arg)
c.4038C>A (p.Ser1346Arg)
c.3513C>A (p.Ser1171Arg)
c.3828C>A (p.Ser1276Arg)
n.8400C>A
3g.9475779C>GCA351693746SETD5n.2972C>G
c.4113C>G (p.Ser1371Arg)
n.5006C>G
n.2397C>G
n.6259C>G
c.4017C>G (p.Ser1339Arg)
c.*4163C>G (n.*4163C>G)
c.*4086C>G (n.*4086C>G)
c.*4391C>G (n.*4391C>G)
c.*4122C>G (n.*4122C>G)
c.3723C>G (p.Ser1241Arg)
c.2722+623C>G
c.4074C>G (p.Ser1358Arg)
c.3053C>G
n.3358C>G
n.4181C>G
c.4191C>G (p.Ser1397Arg)
c.4170C>G (p.Ser1390Arg)
c.4152C>G (p.Ser1384Arg)
c.4134C>G (p.Ser1378Arg)
c.4095C>G (p.Ser1365Arg)
c.4056C>G (p.Ser1352Arg)
c.3780C>G (p.Ser1260Arg)
c.3741C>G (p.Ser1247Arg)
c.4131C>G (p.Ser1377Arg)
c.4038C>G (p.Ser1346Arg)
c.3513C>G (p.Ser1171Arg)
c.3828C>G (p.Ser1276Arg)
n.8400C>G
3g.9475779C>TCA432528514SETD5n.2972C>T
c.4113C>T (p.Ser1371=)
n.5006C>T
n.2397C>T
n.6259C>T
c.4017C>T (p.Ser1339=)
c.*4163C>T (n.*4163C>T)
c.*4086C>T (n.*4086C>T)
c.*4391C>T (n.*4391C>T)
c.*4122C>T (n.*4122C>T)
c.3723C>T (p.Ser1241=)
c.2722+623C>T
c.4074C>T (p.Ser1358=)
c.3053C>T
n.3358C>T
n.4181C>T
c.4191C>T (p.Ser1397=)
c.4170C>T (p.Ser1390=)
c.4152C>T (p.Ser1384=)
c.4134C>T (p.Ser1378=)
c.4095C>T (p.Ser1365=)
c.4056C>T (p.Ser1352=)
c.3780C>T (p.Ser1260=)
c.3741C>T (p.Ser1247=)
c.4131C>T (p.Ser1377=)
c.4038C>T (p.Ser1346=)
c.3513C>T (p.Ser1171=)
c.3828C>T (p.Ser1276=)
n.8400C>T
 dbSNP
3g.9475780T>ACA351693750SETD5n.2973T>A
c.4114T>A (p.Cys1372Ser)
n.5007T>A
n.2398T>A
n.6260T>A
c.4018T>A (p.Cys1340Ser)
c.*4164T>A (n.*4164T>A)
c.*4087T>A (n.*4087T>A)
c.*4392T>A (n.*4392T>A)
c.*4123T>A (n.*4123T>A)
c.3724T>A (p.Cys1242Ser)
c.2722+624T>A
c.4075T>A (p.Cys1359Ser)
c.3054T>A
n.3359T>A
n.4182T>A
c.4192T>A (p.Cys1398Ser)
c.4171T>A (p.Cys1391Ser)
c.4153T>A (p.Cys1385Ser)
c.4135T>A (p.Cys1379Ser)
c.4096T>A (p.Cys1366Ser)
c.4057T>A (p.Cys1353Ser)
c.3781T>A (p.Cys1261Ser)
c.3742T>A (p.Cys1248Ser)
c.4132T>A (p.Cys1378Ser)
c.4039T>A (p.Cys1347Ser)
c.3514T>A (p.Cys1172Ser)
c.3829T>A (p.Cys1277Ser)
n.8401T>A
3g.9475780T>CCA351693753SETD5n.2973T>C
c.4114T>C (p.Cys1372Arg)
n.5007T>C
n.2398T>C
n.6260T>C
c.4018T>C (p.Cys1340Arg)
c.*4164T>C (n.*4164T>C)
c.*4087T>C (n.*4087T>C)
c.*4392T>C (n.*4392T>C)
c.*4123T>C (n.*4123T>C)
c.3724T>C (p.Cys1242Arg)
c.2722+624T>C
c.4075T>C (p.Cys1359Arg)
c.3054T>C
n.3359T>C
n.4182T>C
c.4192T>C (p.Cys1398Arg)
c.4171T>C (p.Cys1391Arg)
c.4153T>C (p.Cys1385Arg)
c.4135T>C (p.Cys1379Arg)
c.4096T>C (p.Cys1366Arg)
c.4057T>C (p.Cys1353Arg)
c.3781T>C (p.Cys1261Arg)
c.3742T>C (p.Cys1248Arg)
c.4132T>C (p.Cys1378Arg)
c.4039T>C (p.Cys1347Arg)
c.3514T>C (p.Cys1172Arg)
c.3829T>C (p.Cys1277Arg)
n.8401T>C
 gnomAD v4
3g.9475780T>GCA351693757SETD5n.2973T>G
c.4114T>G (p.Cys1372Gly)
n.5007T>G
n.2398T>G
n.6260T>G
c.4018T>G (p.Cys1340Gly)
c.*4164T>G (n.*4164T>G)
c.*4087T>G (n.*4087T>G)
c.*4392T>G (n.*4392T>G)
c.*4123T>G (n.*4123T>G)
c.3724T>G (p.Cys1242Gly)
c.2722+624T>G
c.4075T>G (p.Cys1359Gly)
c.3054T>G
n.3359T>G
n.4182T>G
c.4192T>G (p.Cys1398Gly)
c.4171T>G (p.Cys1391Gly)
c.4153T>G (p.Cys1385Gly)
c.4135T>G (p.Cys1379Gly)
c.4096T>G (p.Cys1366Gly)
c.4057T>G (p.Cys1353Gly)
c.3781T>G (p.Cys1261Gly)
c.3742T>G (p.Cys1248Gly)
c.4132T>G (p.Cys1378Gly)
c.4039T>G (p.Cys1347Gly)
c.3514T>G (p.Cys1172Gly)
c.3829T>G (p.Cys1277Gly)
n.8401T>G
3g.9475781G>ACA351693764SETD5n.2974G>A
c.4115G>A (p.Cys1372Tyr)
n.5008G>A
n.2399G>A
n.6261G>A
c.4019G>A (p.Cys1340Tyr)
c.*4165G>A (n.*4165G>A)
c.*4088G>A (n.*4088G>A)
c.*4393G>A (n.*4393G>A)
c.*4124G>A (n.*4124G>A)
c.3725G>A (p.Cys1242Tyr)
c.2722+625G>A
c.4076G>A (p.Cys1359Tyr)
c.3055G>A
n.3360G>A
n.4183G>A
c.4193G>A (p.Cys1398Tyr)
c.4172G>A (p.Cys1391Tyr)
c.4154G>A (p.Cys1385Tyr)
c.4136G>A (p.Cys1379Tyr)
c.4097G>A (p.Cys1366Tyr)
c.4058G>A (p.Cys1353Tyr)
c.3782G>A (p.Cys1261Tyr)
c.3743G>A (p.Cys1248Tyr)
c.4133G>A (p.Cys1378Tyr)
c.4040G>A (p.Cys1347Tyr)
c.3515G>A (p.Cys1172Tyr)
c.3830G>A (p.Cys1277Tyr)
n.8402G>A
 gnomAD v4
3g.9475781G>CCA351693760SETD5n.2974G>C
c.4115G>C (p.Cys1372Ser)
n.5008G>C
n.2399G>C
n.6261G>C
c.4019G>C (p.Cys1340Ser)
c.*4165G>C (n.*4165G>C)
c.*4088G>C (n.*4088G>C)
c.*4393G>C (n.*4393G>C)
c.*4124G>C (n.*4124G>C)
c.3725G>C (p.Cys1242Ser)
c.2722+625G>C
c.4076G>C (p.Cys1359Ser)
c.3055G>C
n.3360G>C
n.4183G>C
c.4193G>C (p.Cys1398Ser)
c.4172G>C (p.Cys1391Ser)
c.4154G>C (p.Cys1385Ser)
c.4136G>C (p.Cys1379Ser)
c.4097G>C (p.Cys1366Ser)
c.4058G>C (p.Cys1353Ser)
c.3782G>C (p.Cys1261Ser)
c.3743G>C (p.Cys1248Ser)
c.4133G>C (p.Cys1378Ser)
c.4040G>C (p.Cys1347Ser)
c.3515G>C (p.Cys1172Ser)
c.3830G>C (p.Cys1277Ser)
n.8402G>C
3g.9475781G>TCA351693762SETD5n.2974G>T
c.4115G>T (p.Cys1372Phe)
n.5008G>T
n.2399G>T
n.6261G>T
c.4019G>T (p.Cys1340Phe)
c.*4165G>T (n.*4165G>T)
c.*4088G>T (n.*4088G>T)
c.*4393G>T (n.*4393G>T)
c.*4124G>T (n.*4124G>T)
c.3725G>T (p.Cys1242Phe)
c.2722+625G>T
c.4076G>T (p.Cys1359Phe)
c.3055G>T
n.3360G>T
n.4183G>T
c.4193G>T (p.Cys1398Phe)
c.4172G>T (p.Cys1391Phe)
c.4154G>T (p.Cys1385Phe)
c.4136G>T (p.Cys1379Phe)
c.4097G>T (p.Cys1366Phe)
c.4058G>T (p.Cys1353Phe)
c.3782G>T (p.Cys1261Phe)
c.3743G>T (p.Cys1248Phe)
c.4133G>T (p.Cys1378Phe)
c.4040G>T (p.Cys1347Phe)
c.3515G>T (p.Cys1172Phe)
c.3830G>T (p.Cys1277Phe)
n.8402G>T
3g.9475782C>ACA351693767SETD5n.2975C>A
c.4116C>A (p.Cys1372Ter)
n.5009C>A
n.2400C>A
n.6262C>A
c.4020C>A (p.Cys1340Ter)
c.*4166C>A (n.*4166C>A)
c.*4089C>A (n.*4089C>A)
c.*4394C>A (n.*4394C>A)
c.*4125C>A (n.*4125C>A)
c.3726C>A (p.Cys1242Ter)
c.2722+626C>A
c.4077C>A (p.Cys1359Ter)
c.3056C>A
n.3361C>A
n.4184C>A
c.4194C>A (p.Cys1398Ter)
c.4173C>A (p.Cys1391Ter)
c.4155C>A (p.Cys1385Ter)
c.4137C>A (p.Cys1379Ter)
c.4098C>A (p.Cys1366Ter)
c.4059C>A (p.Cys1353Ter)
c.3783C>A (p.Cys1261Ter)
c.3744C>A (p.Cys1248Ter)
c.4134C>A (p.Cys1378Ter)
c.4041C>A (p.Cys1347Ter)
c.3516C>A (p.Cys1172Ter)
c.3831C>A (p.Cys1277Ter)
n.8403C>A
3g.9475782C>GCA351693770SETD5n.2975C>G
c.4116C>G (p.Cys1372Trp)
n.5009C>G
n.2400C>G
n.6262C>G
c.4020C>G (p.Cys1340Trp)
c.*4166C>G (n.*4166C>G)
c.*4089C>G (n.*4089C>G)
c.*4394C>G (n.*4394C>G)
c.*4125C>G (n.*4125C>G)
c.3726C>G (p.Cys1242Trp)
c.2722+626C>G
c.4077C>G (p.Cys1359Trp)
c.3056C>G
n.3361C>G
n.4184C>G
c.4194C>G (p.Cys1398Trp)
c.4173C>G (p.Cys1391Trp)
c.4155C>G (p.Cys1385Trp)
c.4137C>G (p.Cys1379Trp)
c.4098C>G (p.Cys1366Trp)
c.4059C>G (p.Cys1353Trp)
c.3783C>G (p.Cys1261Trp)
c.3744C>G (p.Cys1248Trp)
c.4134C>G (p.Cys1378Trp)
c.4041C>G (p.Cys1347Trp)
c.3516C>G (p.Cys1172Trp)
c.3831C>G (p.Cys1277Trp)
n.8403C>G
3g.9475782C>TCA432528519SETD5n.2975C>T
c.4116C>T (p.Cys1372=)
n.5009C>T
n.2400C>T
n.6262C>T
c.4020C>T (p.Cys1340=)
c.*4166C>T (n.*4166C>T)
c.*4089C>T (n.*4089C>T)
c.*4394C>T (n.*4394C>T)
c.*4125C>T (n.*4125C>T)
c.3726C>T (p.Cys1242=)
c.2722+626C>T
c.4077C>T (p.Cys1359=)
c.3056C>T
n.3361C>T
n.4184C>T
c.4194C>T (p.Cys1398=)
c.4173C>T (p.Cys1391=)
c.4155C>T (p.Cys1385=)
c.4137C>T (p.Cys1379=)
c.4098C>T (p.Cys1366=)
c.4059C>T (p.Cys1353=)
c.3783C>T (p.Cys1261=)
c.3744C>T (p.Cys1248=)
c.4134C>T (p.Cys1378=)
c.4041C>T (p.Cys1347=)
c.3516C>T (p.Cys1172=)
c.3831C>T (p.Cys1277=)
n.8403C>T
3g.9475783C>ACA351693775SETD5n.2976C>A
c.4117C>A (p.Pro1373Thr)
n.5010C>A
n.2401C>A
n.6263C>A
c.4021C>A (p.Pro1341Thr)
c.*4167C>A (n.*4167C>A)
c.*4090C>A (n.*4090C>A)
c.*4395C>A (n.*4395C>A)
c.*4126C>A (n.*4126C>A)
c.3727C>A (p.Pro1243Thr)
c.2722+627C>A
c.4078C>A (p.Pro1360Thr)
c.3057C>A
n.3362C>A
n.4185C>A
c.4195C>A (p.Pro1399Thr)
c.4174C>A (p.Pro1392Thr)
c.4156C>A (p.Pro1386Thr)
c.4138C>A (p.Pro1380Thr)
c.4099C>A (p.Pro1367Thr)
c.4060C>A (p.Pro1354Thr)
c.3784C>A (p.Pro1262Thr)
c.3745C>A (p.Pro1249Thr)
c.4135C>A (p.Pro1379Thr)
c.4042C>A (p.Pro1348Thr)
c.3517C>A (p.Pro1173Thr)
c.3832C>A (p.Pro1278Thr)
n.8404C>A
3g.9475783C>GCA351693777SETD5n.2976C>G
c.4117C>G (p.Pro1373Ala)
n.5010C>G
n.2401C>G
n.6263C>G
c.4021C>G (p.Pro1341Ala)
c.*4167C>G (n.*4167C>G)
c.*4090C>G (n.*4090C>G)
c.*4395C>G (n.*4395C>G)
c.*4126C>G (n.*4126C>G)
c.3727C>G (p.Pro1243Ala)
c.2722+627C>G
c.4078C>G (p.Pro1360Ala)
c.3057C>G
n.3362C>G
n.4185C>G
c.4195C>G (p.Pro1399Ala)
c.4174C>G (p.Pro1392Ala)
c.4156C>G (p.Pro1386Ala)
c.4138C>G (p.Pro1380Ala)
c.4099C>G (p.Pro1367Ala)
c.4060C>G (p.Pro1354Ala)
c.3784C>G (p.Pro1262Ala)
c.3745C>G (p.Pro1249Ala)
c.4135C>G (p.Pro1379Ala)
c.4042C>G (p.Pro1348Ala)
c.3517C>G (p.Pro1173Ala)
c.3832C>G (p.Pro1278Ala)
n.8404C>G
 gnomAD v4
3g.9475783C>TCA351693780SETD5n.2976C>T
c.4117C>T (p.Pro1373Ser)
n.5010C>T
n.2401C>T
n.6263C>T
c.4021C>T (p.Pro1341Ser)
c.*4167C>T (n.*4167C>T)
c.*4090C>T (n.*4090C>T)
c.*4395C>T (n.*4395C>T)
c.*4126C>T (n.*4126C>T)
c.3727C>T (p.Pro1243Ser)
c.2722+627C>T
c.4078C>T (p.Pro1360Ser)
c.3057C>T
n.3362C>T
n.4185C>T
c.4195C>T (p.Pro1399Ser)
c.4174C>T (p.Pro1392Ser)
c.4156C>T (p.Pro1386Ser)
c.4138C>T (p.Pro1380Ser)
c.4099C>T (p.Pro1367Ser)
c.4060C>T (p.Pro1354Ser)
c.3784C>T (p.Pro1262Ser)
c.3745C>T (p.Pro1249Ser)
c.4135C>T (p.Pro1379Ser)
c.4042C>T (p.Pro1348Ser)
c.3517C>T (p.Pro1173Ser)
c.3832C>T (p.Pro1278Ser)
n.8404C>T
 gnomAD v4
3g.9475784C>ACA351693785SETD5n.2977C>A
c.4118C>A (p.Pro1373His)
n.5011C>A
n.2402C>A
n.6264C>A
c.4022C>A (p.Pro1341His)
c.*4168C>A (n.*4168C>A)
c.*4091C>A (n.*4091C>A)
c.*4396C>A (n.*4396C>A)
c.*4127C>A (n.*4127C>A)
c.3728C>A (p.Pro1243His)
c.2722+628C>A
c.4079C>A (p.Pro1360His)
c.3058C>A
n.3363C>A
n.4186C>A
c.4196C>A (p.Pro1399His)
c.4175C>A (p.Pro1392His)
c.4157C>A (p.Pro1386His)
c.4139C>A (p.Pro1380His)
c.4100C>A (p.Pro1367His)
c.4061C>A (p.Pro1354His)
c.3785C>A (p.Pro1262His)
c.3746C>A (p.Pro1249His)
c.4136C>A (p.Pro1379His)
c.4043C>A (p.Pro1348His)
c.3518C>A (p.Pro1173His)
c.3833C>A (p.Pro1278His)
n.8405C>A
 gnomAD v4
3g.9475784C=CA1344742798SETD5n.2977C=
c.4118C= (p.Pro1373=)
n.5011C=
n.2402C=
n.6264C=
c.4022C= (p.Pro1341=)
c.*4168C= (n.*4168C=)
c.*4091C= (n.*4091C=)
c.*4396C= (n.*4396C=)
c.*4127C= (n.*4127C=)
c.3728C= (p.Pro1243=)
c.2722+628C=
c.4079C= (p.Pro1360=)
c.3058C=
n.3363C=
n.4186C=
c.4196C= (p.Pro1399=)
c.4175C= (p.Pro1392=)
c.4157C= (p.Pro1386=)
c.4139C= (p.Pro1380=)
c.4100C= (p.Pro1367=)
c.4061C= (p.Pro1354=)
c.3785C= (p.Pro1262=)
c.3746C= (p.Pro1249=)
c.4136C= (p.Pro1379=)
c.4043C= (p.Pro1348=)
c.3518C= (p.Pro1173=)
c.3833C= (p.Pro1278=)
n.8405C=
3g.9475784C>GCA351693791SETD5n.2977C>G
c.4118C>G (p.Pro1373Arg)
n.5011C>G
n.2402C>G
n.6264C>G
c.4022C>G (p.Pro1341Arg)
c.*4168C>G (n.*4168C>G)
c.*4091C>G (n.*4091C>G)
c.*4396C>G (n.*4396C>G)
c.*4127C>G (n.*4127C>G)
c.3728C>G (p.Pro1243Arg)
c.2722+628C>G
c.4079C>G (p.Pro1360Arg)
c.3058C>G
n.3363C>G
n.4186C>G
c.4196C>G (p.Pro1399Arg)
c.4175C>G (p.Pro1392Arg)
c.4157C>G (p.Pro1386Arg)
c.4139C>G (p.Pro1380Arg)
c.4100C>G (p.Pro1367Arg)
c.4061C>G (p.Pro1354Arg)
c.3785C>G (p.Pro1262Arg)
c.3746C>G (p.Pro1249Arg)
c.4136C>G (p.Pro1379Arg)
c.4043C>G (p.Pro1348Arg)
c.3518C>G (p.Pro1173Arg)
c.3833C>G (p.Pro1278Arg)
n.8405C>G
3g.9475784C>TCA351693788SETD5n.2977C>T
c.4118C>T (p.Pro1373Leu)
n.5011C>T
n.2402C>T
n.6264C>T
c.4022C>T (p.Pro1341Leu)
c.*4168C>T (n.*4168C>T)
c.*4091C>T (n.*4091C>T)
c.*4396C>T (n.*4396C>T)
c.*4127C>T (n.*4127C>T)
c.3728C>T (p.Pro1243Leu)
c.2722+628C>T
c.4079C>T (p.Pro1360Leu)
c.3058C>T
n.3363C>T
n.4186C>T
c.4196C>T (p.Pro1399Leu)
c.4175C>T (p.Pro1392Leu)
c.4157C>T (p.Pro1386Leu)
c.4139C>T (p.Pro1380Leu)
c.4100C>T (p.Pro1367Leu)
c.4061C>T (p.Pro1354Leu)
c.3785C>T (p.Pro1262Leu)
c.3746C>T (p.Pro1249Leu)
c.4136C>T (p.Pro1379Leu)
c.4043C>T (p.Pro1348Leu)
c.3518C>T (p.Pro1173Leu)
c.3833C>T (p.Pro1278Leu)
n.8405C>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475785T>ACA432528526SETD5n.2978T>A
c.4119T>A (p.Pro1373=)
n.5012T>A
n.2403T>A
n.6265T>A
c.4023T>A (p.Pro1341=)
c.*4169T>A (n.*4169T>A)
c.*4092T>A (n.*4092T>A)
c.*4397T>A (n.*4397T>A)
c.*4128T>A (n.*4128T>A)
c.3729T>A (p.Pro1243=)
c.2722+629T>A
c.4080T>A (p.Pro1360=)
c.3059T>A
n.3364T>A
n.4187T>A
c.4197T>A (p.Pro1399=)
c.4176T>A (p.Pro1392=)
c.4158T>A (p.Pro1386=)
c.4140T>A (p.Pro1380=)
c.4101T>A (p.Pro1367=)
c.4062T>A (p.Pro1354=)
c.3786T>A (p.Pro1262=)
c.3747T>A (p.Pro1249=)
c.4137T>A (p.Pro1379=)
c.4044T>A (p.Pro1348=)
c.3519T>A (p.Pro1173=)
c.3834T>A (p.Pro1278=)
n.8406T>A
3g.9475785T>CCA432528528SETD5n.2978T>C
c.4119T>C (p.Pro1373=)
n.5012T>C
n.2403T>C
n.6265T>C
c.4023T>C (p.Pro1341=)
c.*4169T>C (n.*4169T>C)
c.*4092T>C (n.*4092T>C)
c.*4397T>C (n.*4397T>C)
c.*4128T>C (n.*4128T>C)
c.3729T>C (p.Pro1243=)
c.2722+629T>C
c.4080T>C (p.Pro1360=)
c.3059T>C
n.3364T>C
n.4187T>C
c.4197T>C (p.Pro1399=)
c.4176T>C (p.Pro1392=)
c.4158T>C (p.Pro1386=)
c.4140T>C (p.Pro1380=)
c.4101T>C (p.Pro1367=)
c.4062T>C (p.Pro1354=)
c.3786T>C (p.Pro1262=)
c.3747T>C (p.Pro1249=)
c.4137T>C (p.Pro1379=)
c.4044T>C (p.Pro1348=)
c.3519T>C (p.Pro1173=)
c.3834T>C (p.Pro1278=)
n.8406T>C
3g.9475785T>GCA432528529SETD5n.2978T>G
c.4119T>G (p.Pro1373=)
n.5012T>G
n.2403T>G
n.6265T>G
c.4023T>G (p.Pro1341=)
c.*4169T>G (n.*4169T>G)
c.*4092T>G (n.*4092T>G)
c.*4397T>G (n.*4397T>G)
c.*4128T>G (n.*4128T>G)
c.3729T>G (p.Pro1243=)
c.2722+629T>G
c.4080T>G (p.Pro1360=)
c.3059T>G
n.3364T>G
n.4187T>G
c.4197T>G (p.Pro1399=)
c.4176T>G (p.Pro1392=)
c.4158T>G (p.Pro1386=)
c.4140T>G (p.Pro1380=)
c.4101T>G (p.Pro1367=)
c.4062T>G (p.Pro1354=)
c.3786T>G (p.Pro1262=)
c.3747T>G (p.Pro1249=)
c.4137T>G (p.Pro1379=)
c.4044T>G (p.Pro1348=)
c.3519T>G (p.Pro1173=)
c.3834T>G (p.Pro1278=)
n.8406T>G
3g.9475786T>ACA351693795SETD5n.2979T>A
c.4120T>A (p.Ser1374Thr)
n.5013T>A
n.2404T>A
n.6266T>A
c.4024T>A (p.Ser1342Thr)
c.*4170T>A (n.*4170T>A)
c.*4093T>A (n.*4093T>A)
c.*4398T>A (n.*4398T>A)
c.*4129T>A (n.*4129T>A)
c.3730T>A (p.Ser1244Thr)
c.2722+630T>A
c.4081T>A (p.Ser1361Thr)
c.3060T>A
n.3365T>A
n.4188T>A
c.4198T>A (p.Ser1400Thr)
c.4177T>A (p.Ser1393Thr)
c.4159T>A (p.Ser1387Thr)
c.4141T>A (p.Ser1381Thr)
c.4102T>A (p.Ser1368Thr)
c.4063T>A (p.Ser1355Thr)
c.3787T>A (p.Ser1263Thr)
c.3748T>A (p.Ser1250Thr)
c.4138T>A (p.Ser1380Thr)
c.4045T>A (p.Ser1349Thr)
c.3520T>A (p.Ser1174Thr)
c.3835T>A (p.Ser1279Thr)
n.8407T>A
3g.9475786T>CCA351693797SETD5n.2979T>C
c.4120T>C (p.Ser1374Pro)
n.5013T>C
n.2404T>C
n.6266T>C
c.4024T>C (p.Ser1342Pro)
c.*4170T>C (n.*4170T>C)
c.*4093T>C (n.*4093T>C)
c.*4398T>C (n.*4398T>C)
c.*4129T>C (n.*4129T>C)
c.3730T>C (p.Ser1244Pro)
c.2722+630T>C
c.4081T>C (p.Ser1361Pro)
c.3060T>C
n.3365T>C
n.4188T>C
c.4198T>C (p.Ser1400Pro)
c.4177T>C (p.Ser1393Pro)
c.4159T>C (p.Ser1387Pro)
c.4141T>C (p.Ser1381Pro)
c.4102T>C (p.Ser1368Pro)
c.4063T>C (p.Ser1355Pro)
c.3787T>C (p.Ser1263Pro)
c.3748T>C (p.Ser1250Pro)
c.4138T>C (p.Ser1380Pro)
c.4045T>C (p.Ser1349Pro)
c.3520T>C (p.Ser1174Pro)
c.3835T>C (p.Ser1279Pro)
n.8407T>C
3g.9475786T>GCA351693800SETD5n.2979T>G
c.4120T>G (p.Ser1374Ala)
n.5013T>G
n.2404T>G
n.6266T>G
c.4024T>G (p.Ser1342Ala)
c.*4170T>G (n.*4170T>G)
c.*4093T>G (n.*4093T>G)
c.*4398T>G (n.*4398T>G)
c.*4129T>G (n.*4129T>G)
c.3730T>G (p.Ser1244Ala)
c.2722+630T>G
c.4081T>G (p.Ser1361Ala)
c.3060T>G
n.3365T>G
n.4188T>G
c.4198T>G (p.Ser1400Ala)
c.4177T>G (p.Ser1393Ala)
c.4159T>G (p.Ser1387Ala)
c.4141T>G (p.Ser1381Ala)
c.4102T>G (p.Ser1368Ala)
c.4063T>G (p.Ser1355Ala)
c.3787T>G (p.Ser1263Ala)
c.3748T>G (p.Ser1250Ala)
c.4138T>G (p.Ser1380Ala)
c.4045T>G (p.Ser1349Ala)
c.3520T>G (p.Ser1174Ala)
c.3835T>G (p.Ser1279Ala)
n.8407T>G
3g.9475787C>ACA351693804SETD5n.2980C>A
c.4121C>A (p.Ser1374Tyr)
n.5014C>A
n.2405C>A
n.6267C>A
c.4025C>A (p.Ser1342Tyr)
c.*4171C>A (n.*4171C>A)
c.*4094C>A (n.*4094C>A)
c.*4399C>A (n.*4399C>A)
c.*4130C>A (n.*4130C>A)
c.3731C>A (p.Ser1244Tyr)
c.2722+631C>A
c.4082C>A (p.Ser1361Tyr)
c.3061C>A
n.3366C>A
n.4189C>A
c.4199C>A (p.Ser1400Tyr)
c.4178C>A (p.Ser1393Tyr)
c.4160C>A (p.Ser1387Tyr)
c.4142C>A (p.Ser1381Tyr)
c.4103C>A (p.Ser1368Tyr)
c.4064C>A (p.Ser1355Tyr)
c.3788C>A (p.Ser1263Tyr)
c.3749C>A (p.Ser1250Tyr)
c.4139C>A (p.Ser1380Tyr)
c.4046C>A (p.Ser1349Tyr)
c.3521C>A (p.Ser1174Tyr)
c.3836C>A (p.Ser1279Tyr)
n.8408C>A
 gnomAD v4
3g.9475787C>GCA351693811SETD5n.2980C>G
c.4121C>G (p.Ser1374Cys)
n.5014C>G
n.2405C>G
n.6267C>G
c.4025C>G (p.Ser1342Cys)
c.*4171C>G (n.*4171C>G)
c.*4094C>G (n.*4094C>G)
c.*4399C>G (n.*4399C>G)
c.*4130C>G (n.*4130C>G)
c.3731C>G (p.Ser1244Cys)
c.2722+631C>G
c.4082C>G (p.Ser1361Cys)
c.3061C>G
n.3366C>G
n.4189C>G
c.4199C>G (p.Ser1400Cys)
c.4178C>G (p.Ser1393Cys)
c.4160C>G (p.Ser1387Cys)
c.4142C>G (p.Ser1381Cys)
c.4103C>G (p.Ser1368Cys)
c.4064C>G (p.Ser1355Cys)
c.3788C>G (p.Ser1263Cys)
c.3749C>G (p.Ser1250Cys)
c.4139C>G (p.Ser1380Cys)
c.4046C>G (p.Ser1349Cys)
c.3521C>G (p.Ser1174Cys)
c.3836C>G (p.Ser1279Cys)
n.8408C>G
3g.9475787C>TCA351693815SETD5n.2980C>T
c.4121C>T (p.Ser1374Phe)
n.5014C>T
n.2405C>T
n.6267C>T
c.4025C>T (p.Ser1342Phe)
c.*4171C>T (n.*4171C>T)
c.*4094C>T (n.*4094C>T)
c.*4399C>T (n.*4399C>T)
c.*4130C>T (n.*4130C>T)
c.3731C>T (p.Ser1244Phe)
c.2722+631C>T
c.4082C>T (p.Ser1361Phe)
c.3061C>T
n.3366C>T
n.4189C>T
c.4199C>T (p.Ser1400Phe)
c.4178C>T (p.Ser1393Phe)
c.4160C>T (p.Ser1387Phe)
c.4142C>T (p.Ser1381Phe)
c.4103C>T (p.Ser1368Phe)
c.4064C>T (p.Ser1355Phe)
c.3788C>T (p.Ser1263Phe)
c.3749C>T (p.Ser1250Phe)
c.4139C>T (p.Ser1380Phe)
c.4046C>T (p.Ser1349Phe)
c.3521C>T (p.Ser1174Phe)
c.3836C>T (p.Ser1279Phe)
n.8408C>T
3g.9475788T>ACA432528532SETD5n.2981T>A
c.4122T>A (p.Ser1374=)
n.5015T>A
n.2406T>A
n.6268T>A
c.4026T>A (p.Ser1342=)
c.*4172T>A (n.*4172T>A)
c.*4095T>A (n.*4095T>A)
c.*4400T>A (n.*4400T>A)
c.*4131T>A (n.*4131T>A)
c.3732T>A (p.Ser1244=)
c.2722+632T>A
c.4083T>A (p.Ser1361=)
c.3062T>A
n.3367T>A
n.4190T>A
c.4200T>A (p.Ser1400=)
c.4179T>A (p.Ser1393=)
c.4161T>A (p.Ser1387=)
c.4143T>A (p.Ser1381=)
c.4104T>A (p.Ser1368=)
c.4065T>A (p.Ser1355=)
c.3789T>A (p.Ser1263=)
c.3750T>A (p.Ser1250=)
c.4140T>A (p.Ser1380=)
c.4047T>A (p.Ser1349=)
c.3522T>A (p.Ser1174=)
c.3837T>A (p.Ser1279=)
n.8409T>A
3g.9475788T>CCA432528534SETD5n.2981T>C
c.4122T>C (p.Ser1374=)
n.5015T>C
n.2406T>C
n.6268T>C
c.4026T>C (p.Ser1342=)
c.*4172T>C (n.*4172T>C)
c.*4095T>C (n.*4095T>C)
c.*4400T>C (n.*4400T>C)
c.*4131T>C (n.*4131T>C)
c.3732T>C (p.Ser1244=)
c.2722+632T>C
c.4083T>C (p.Ser1361=)
c.3062T>C
n.3367T>C
n.4190T>C
c.4200T>C (p.Ser1400=)
c.4179T>C (p.Ser1393=)
c.4161T>C (p.Ser1387=)
c.4143T>C (p.Ser1381=)
c.4104T>C (p.Ser1368=)
c.4065T>C (p.Ser1355=)
c.3789T>C (p.Ser1263=)
c.3750T>C (p.Ser1250=)
c.4140T>C (p.Ser1380=)
c.4047T>C (p.Ser1349=)
c.3522T>C (p.Ser1174=)
c.3837T>C (p.Ser1279=)
n.8409T>C
 gnomAD v4
3g.9475788T>GCA432528535SETD5n.2981T>G
c.4122T>G (p.Ser1374=)
n.5015T>G
n.2406T>G
n.6268T>G
c.4026T>G (p.Ser1342=)
c.*4172T>G (n.*4172T>G)
c.*4095T>G (n.*4095T>G)
c.*4400T>G (n.*4400T>G)
c.*4131T>G (n.*4131T>G)
c.3732T>G (p.Ser1244=)
c.2722+632T>G
c.4083T>G (p.Ser1361=)
c.3062T>G
n.3367T>G
n.4190T>G
c.4200T>G (p.Ser1400=)
c.4179T>G (p.Ser1393=)
c.4161T>G (p.Ser1387=)
c.4143T>G (p.Ser1381=)
c.4104T>G (p.Ser1368=)
c.4065T>G (p.Ser1355=)
c.3789T>G (p.Ser1263=)
c.3750T>G (p.Ser1250=)
c.4140T>G (p.Ser1380=)
c.4047T>G (p.Ser1349=)
c.3522T>G (p.Ser1174=)
c.3837T>G (p.Ser1279=)
n.8409T>G
3g.9475789A>CCA351693820SETD5n.2982A>C
c.4123A>C (p.Ser1375Arg)
n.5016A>C
n.2407A>C
n.6269A>C
c.4027A>C (p.Ser1343Arg)
c.*4173A>C (n.*4173A>C)
c.*4096A>C (n.*4096A>C)
c.*4401A>C (n.*4401A>C)
c.*4132A>C (n.*4132A>C)
c.3733A>C (p.Ser1245Arg)
c.2722+633A>C
c.4084A>C (p.Ser1362Arg)
c.3063A>C
n.3368A>C
n.4191A>C
c.4201A>C (p.Ser1401Arg)
c.4180A>C (p.Ser1394Arg)
c.4162A>C (p.Ser1388Arg)
c.4144A>C (p.Ser1382Arg)
c.4105A>C (p.Ser1369Arg)
c.4066A>C (p.Ser1356Arg)
c.3790A>C (p.Ser1264Arg)
c.3751A>C (p.Ser1251Arg)
c.4141A>C (p.Ser1381Arg)
c.4048A>C (p.Ser1350Arg)
c.3523A>C (p.Ser1175Arg)
c.3838A>C (p.Ser1280Arg)
n.8410A>C
3g.9475789A>GCA351693823SETD5n.2982A>G
c.4123A>G (p.Ser1375Gly)
n.5016A>G
n.2407A>G
n.6269A>G
c.4027A>G (p.Ser1343Gly)
c.*4173A>G (n.*4173A>G)
c.*4096A>G (n.*4096A>G)
c.*4401A>G (n.*4401A>G)
c.*4132A>G (n.*4132A>G)
c.3733A>G (p.Ser1245Gly)
c.2722+633A>G
c.4084A>G (p.Ser1362Gly)
c.3063A>G
n.3368A>G
n.4191A>G
c.4201A>G (p.Ser1401Gly)
c.4180A>G (p.Ser1394Gly)
c.4162A>G (p.Ser1388Gly)
c.4144A>G (p.Ser1382Gly)
c.4105A>G (p.Ser1369Gly)
c.4066A>G (p.Ser1356Gly)
c.3790A>G (p.Ser1264Gly)
c.3751A>G (p.Ser1251Gly)
c.4141A>G (p.Ser1381Gly)
c.4048A>G (p.Ser1350Gly)
c.3523A>G (p.Ser1175Gly)
c.3838A>G (p.Ser1280Gly)
n.8410A>G
 gnomAD v4
3g.9475789A>TCA351693828SETD5n.2982A>T
c.4123A>T (p.Ser1375Cys)
n.5016A>T
n.2407A>T
n.6269A>T
c.4027A>T (p.Ser1343Cys)
c.*4173A>T (n.*4173A>T)
c.*4096A>T (n.*4096A>T)
c.*4401A>T (n.*4401A>T)
c.*4132A>T (n.*4132A>T)
c.3733A>T (p.Ser1245Cys)
c.2722+633A>T
c.4084A>T (p.Ser1362Cys)
c.3063A>T
n.3368A>T
n.4191A>T
c.4201A>T (p.Ser1401Cys)
c.4180A>T (p.Ser1394Cys)
c.4162A>T (p.Ser1388Cys)
c.4144A>T (p.Ser1382Cys)
c.4105A>T (p.Ser1369Cys)
c.4066A>T (p.Ser1356Cys)
c.3790A>T (p.Ser1264Cys)
c.3751A>T (p.Ser1251Cys)
c.4141A>T (p.Ser1381Cys)
c.4048A>T (p.Ser1350Cys)
c.3523A>T (p.Ser1175Cys)
c.3838A>T (p.Ser1280Cys)
n.8410A>T
3g.9475790G>ACA2239851SETD5n.2983G>A
c.4124G>A (p.Ser1375Asn)
n.5017G>A
n.2408G>A
n.6270G>A
c.4028G>A (p.Ser1343Asn)
c.*4174G>A (n.*4174G>A)
c.*4097G>A (n.*4097G>A)
c.*4402G>A (n.*4402G>A)
c.*4133G>A (n.*4133G>A)
c.3734G>A (p.Ser1245Asn)
c.2722+634G>A
c.4085G>A (p.Ser1362Asn)
c.3064G>A
n.3369G>A
n.4192G>A
c.4202G>A (p.Ser1401Asn)
c.4181G>A (p.Ser1394Asn)
c.4163G>A (p.Ser1388Asn)
c.4145G>A (p.Ser1382Asn)
c.4106G>A (p.Ser1369Asn)
c.4067G>A (p.Ser1356Asn)
c.3791G>A (p.Ser1264Asn)
c.3752G>A (p.Ser1251Asn)
c.4142G>A (p.Ser1381Asn)
c.4049G>A (p.Ser1350Asn)
c.3524G>A (p.Ser1175Asn)
c.3839G>A (p.Ser1280Asn)
n.8411G>A
 dbSNP ExAC
3g.9475790G>CCA351693834SETD5n.2983G>C
c.4124G>C (p.Ser1375Thr)
n.5017G>C
n.2408G>C
n.6270G>C
c.4028G>C (p.Ser1343Thr)
c.*4174G>C (n.*4174G>C)
c.*4097G>C (n.*4097G>C)
c.*4402G>C (n.*4402G>C)
c.*4133G>C (n.*4133G>C)
c.3734G>C (p.Ser1245Thr)
c.2722+634G>C
c.4085G>C (p.Ser1362Thr)
c.3064G>C
n.3369G>C
n.4192G>C
c.4202G>C (p.Ser1401Thr)
c.4181G>C (p.Ser1394Thr)
c.4163G>C (p.Ser1388Thr)
c.4145G>C (p.Ser1382Thr)
c.4106G>C (p.Ser1369Thr)
c.4067G>C (p.Ser1356Thr)
c.3791G>C (p.Ser1264Thr)
c.3752G>C (p.Ser1251Thr)
c.4142G>C (p.Ser1381Thr)
c.4049G>C (p.Ser1350Thr)
c.3524G>C (p.Ser1175Thr)
c.3839G>C (p.Ser1280Thr)
n.8411G>C
 dbSNP
3g.9475790G=CA1344742799SETD5n.2983G=
c.4124G= (p.Ser1375=)
n.5017G=
n.2408G=
n.6270G=
c.4028G= (p.Ser1343=)
c.*4174G= (n.*4174G=)
c.*4097G= (n.*4097G=)
c.*4402G= (n.*4402G=)
c.*4133G= (n.*4133G=)
c.3734G= (p.Ser1245=)
c.2722+634G=
c.4085G= (p.Ser1362=)
c.3064G=
n.3369G=
n.4192G=
c.4202G= (p.Ser1401=)
c.4181G= (p.Ser1394=)
c.4163G= (p.Ser1388=)
c.4145G= (p.Ser1382=)
c.4106G= (p.Ser1369=)
c.4067G= (p.Ser1356=)
c.3791G= (p.Ser1264=)
c.3752G= (p.Ser1251=)
c.4142G= (p.Ser1381=)
c.4049G= (p.Ser1350=)
c.3524G= (p.Ser1175=)
c.3839G= (p.Ser1280=)
n.8411G=
3g.9475790G>TCA351693836SETD5n.2983G>T
c.4124G>T (p.Ser1375Ile)
n.5017G>T
n.2408G>T
n.6270G>T
c.4028G>T (p.Ser1343Ile)
c.*4174G>T (n.*4174G>T)
c.*4097G>T (n.*4097G>T)
c.*4402G>T (n.*4402G>T)
c.*4133G>T (n.*4133G>T)
c.3734G>T (p.Ser1245Ile)
c.2722+634G>T
c.4085G>T (p.Ser1362Ile)
c.3064G>T
n.3369G>T
n.4192G>T
c.4202G>T (p.Ser1401Ile)
c.4181G>T (p.Ser1394Ile)
c.4163G>T (p.Ser1388Ile)
c.4145G>T (p.Ser1382Ile)
c.4106G>T (p.Ser1369Ile)
c.4067G>T (p.Ser1356Ile)
c.3791G>T (p.Ser1264Ile)
c.3752G>T (p.Ser1251Ile)
c.4142G>T (p.Ser1381Ile)
c.4049G>T (p.Ser1350Ile)
c.3524G>T (p.Ser1175Ile)
c.3839G>T (p.Ser1280Ile)
n.8411G>T
3g.9475791T>ACA351693844SETD5n.2984T>A
c.4125T>A (p.Ser1375Arg)
n.5018T>A
n.2409T>A
n.6271T>A
c.4029T>A (p.Ser1343Arg)
c.*4175T>A (n.*4175T>A)
c.*4098T>A (n.*4098T>A)
c.*4403T>A (n.*4403T>A)
c.*4134T>A (n.*4134T>A)
c.3735T>A (p.Ser1245Arg)
c.2722+635T>A
c.4086T>A (p.Ser1362Arg)
c.3065T>A
n.3370T>A
n.4193T>A
c.4203T>A (p.Ser1401Arg)
c.4182T>A (p.Ser1394Arg)
c.4164T>A (p.Ser1388Arg)
c.4146T>A (p.Ser1382Arg)
c.4107T>A (p.Ser1369Arg)
c.4068T>A (p.Ser1356Arg)
c.3792T>A (p.Ser1264Arg)
c.3753T>A (p.Ser1251Arg)
c.4143T>A (p.Ser1381Arg)
c.4050T>A (p.Ser1350Arg)
c.3525T>A (p.Ser1175Arg)
c.3840T>A (p.Ser1280Arg)
n.8412T>A
3g.9475791T>CCA432528538SETD5n.2984T>C
c.4125T>C (p.Ser1375=)
n.5018T>C
n.2409T>C
n.6271T>C
c.4029T>C (p.Ser1343=)
c.*4175T>C (n.*4175T>C)
c.*4098T>C (n.*4098T>C)
c.*4403T>C (n.*4403T>C)
c.*4134T>C (n.*4134T>C)
c.3735T>C (p.Ser1245=)
c.2722+635T>C
c.4086T>C (p.Ser1362=)
c.3065T>C
n.3370T>C
n.4193T>C
c.4203T>C (p.Ser1401=)
c.4182T>C (p.Ser1394=)
c.4164T>C (p.Ser1388=)
c.4146T>C (p.Ser1382=)
c.4107T>C (p.Ser1369=)
c.4068T>C (p.Ser1356=)
c.3792T>C (p.Ser1264=)
c.3753T>C (p.Ser1251=)
c.4143T>C (p.Ser1381=)
c.4050T>C (p.Ser1350=)
c.3525T>C (p.Ser1175=)
c.3840T>C (p.Ser1280=)
n.8412T>C
3g.9475791T>GCA351693842SETD5n.2984T>G
c.4125T>G (p.Ser1375Arg)
n.5018T>G
n.2409T>G
n.6271T>G
c.4029T>G (p.Ser1343Arg)
c.*4175T>G (n.*4175T>G)
c.*4098T>G (n.*4098T>G)
c.*4403T>G (n.*4403T>G)
c.*4134T>G (n.*4134T>G)
c.3735T>G (p.Ser1245Arg)
c.2722+635T>G
c.4086T>G (p.Ser1362Arg)
c.3065T>G
n.3370T>G
n.4193T>G
c.4203T>G (p.Ser1401Arg)
c.4182T>G (p.Ser1394Arg)
c.4164T>G (p.Ser1388Arg)
c.4146T>G (p.Ser1382Arg)
c.4107T>G (p.Ser1369Arg)
c.4068T>G (p.Ser1356Arg)
c.3792T>G (p.Ser1264Arg)
c.3753T>G (p.Ser1251Arg)
c.4143T>G (p.Ser1381Arg)
c.4050T>G (p.Ser1350Arg)
c.3525T>G (p.Ser1175Arg)
c.3840T>G (p.Ser1280Arg)
n.8412T>G
 gnomAD v4
3g.9475792G>ACA2239852SETD5n.2985G>A
c.4126G>A (p.Ala1376Thr)
n.5019G>A
n.2410G>A
n.6272G>A
c.4030G>A (p.Ala1344Thr)
c.*4176G>A (n.*4176G>A)
c.*4099G>A (n.*4099G>A)
c.*4404G>A (n.*4404G>A)
c.*4135G>A (n.*4135G>A)
c.3736G>A (p.Ala1246Thr)
c.2722+636G>A
c.4087G>A (p.Ala1363Thr)
c.3066G>A
n.3371G>A
n.4194G>A
c.4204G>A (p.Ala1402Thr)
c.4183G>A (p.Ala1395Thr)
c.4165G>A (p.Ala1389Thr)
c.4147G>A (p.Ala1383Thr)
c.4108G>A (p.Ala1370Thr)
c.4069G>A (p.Ala1357Thr)
c.3793G>A (p.Ala1265Thr)
c.3754G>A (p.Ala1252Thr)
c.4144G>A (p.Ala1382Thr)
c.4051G>A (p.Ala1351Thr)
c.3526G>A (p.Ala1176Thr)
c.3841G>A (p.Ala1281Thr)
n.8413G>A
 dbSNP ExAC gnomAD v2
3g.9475792G>CCA351693856SETD5n.2985G>C
c.4126G>C (p.Ala1376Pro)
n.5019G>C
n.2410G>C
n.6272G>C
c.4030G>C (p.Ala1344Pro)
c.*4176G>C (n.*4176G>C)
c.*4099G>C (n.*4099G>C)
c.*4404G>C (n.*4404G>C)
c.*4135G>C (n.*4135G>C)
c.3736G>C (p.Ala1246Pro)
c.2722+636G>C
c.4087G>C (p.Ala1363Pro)
c.3066G>C
n.3371G>C
n.4194G>C
c.4204G>C (p.Ala1402Pro)
c.4183G>C (p.Ala1395Pro)
c.4165G>C (p.Ala1389Pro)
c.4147G>C (p.Ala1383Pro)
c.4108G>C (p.Ala1370Pro)
c.4069G>C (p.Ala1357Pro)
c.3793G>C (p.Ala1265Pro)
c.3754G>C (p.Ala1252Pro)
c.4144G>C (p.Ala1382Pro)
c.4051G>C (p.Ala1351Pro)
c.3526G>C (p.Ala1176Pro)
c.3841G>C (p.Ala1281Pro)
n.8413G>C
3g.9475792G=CA1344742800SETD5n.2985G=
c.4126G= (p.Ala1376=)
n.5019G=
n.2410G=
n.6272G=
c.4030G= (p.Ala1344=)
c.*4176G= (n.*4176G=)
c.*4099G= (n.*4099G=)
c.*4404G= (n.*4404G=)
c.*4135G= (n.*4135G=)
c.3736G= (p.Ala1246=)
c.2722+636G=
c.4087G= (p.Ala1363=)
c.3066G=
n.3371G=
n.4194G=
c.4204G= (p.Ala1402=)
c.4183G= (p.Ala1395=)
c.4165G= (p.Ala1389=)
c.4147G= (p.Ala1383=)
c.4108G= (p.Ala1370=)
c.4069G= (p.Ala1357=)
c.3793G= (p.Ala1265=)
c.3754G= (p.Ala1252=)
c.4144G= (p.Ala1382=)
c.4051G= (p.Ala1351=)
c.3526G= (p.Ala1176=)
c.3841G= (p.Ala1281=)
n.8413G=
3g.9475792G>TCA351693852SETD5n.2985G>T
c.4126G>T (p.Ala1376Ser)
n.5019G>T
n.2410G>T
n.6272G>T
c.4030G>T (p.Ala1344Ser)
c.*4176G>T (n.*4176G>T)
c.*4099G>T (n.*4099G>T)
c.*4404G>T (n.*4404G>T)
c.*4135G>T (n.*4135G>T)
c.3736G>T (p.Ala1246Ser)
c.2722+636G>T
c.4087G>T (p.Ala1363Ser)
c.3066G>T
n.3371G>T
n.4194G>T
c.4204G>T (p.Ala1402Ser)
c.4183G>T (p.Ala1395Ser)
c.4165G>T (p.Ala1389Ser)
c.4147G>T (p.Ala1383Ser)
c.4108G>T (p.Ala1370Ser)
c.4069G>T (p.Ala1357Ser)
c.3793G>T (p.Ala1265Ser)
c.3754G>T (p.Ala1252Ser)
c.4144G>T (p.Ala1382Ser)
c.4051G>T (p.Ala1351Ser)
c.3526G>T (p.Ala1176Ser)
c.3841G>T (p.Ala1281Ser)
n.8413G>T
3g.9475793C>ACA351693858SETD5n.2986C>A
c.4127C>A (p.Ala1376Asp)
n.5020C>A
n.2411C>A
n.6273C>A
c.4031C>A (p.Ala1344Asp)
c.*4177C>A (n.*4177C>A)
c.*4100C>A (n.*4100C>A)
c.*4405C>A (n.*4405C>A)
c.*4136C>A (n.*4136C>A)
c.3737C>A (p.Ala1246Asp)
c.2722+637C>A
c.4088C>A (p.Ala1363Asp)
c.3067C>A
n.3372C>A
n.4195C>A
c.4205C>A (p.Ala1402Asp)
c.4184C>A (p.Ala1395Asp)
c.4166C>A (p.Ala1389Asp)
c.4148C>A (p.Ala1383Asp)
c.4109C>A (p.Ala1370Asp)
c.4070C>A (p.Ala1357Asp)
c.3794C>A (p.Ala1265Asp)
c.3755C>A (p.Ala1252Asp)
c.4145C>A (p.Ala1382Asp)
c.4052C>A (p.Ala1351Asp)
c.3527C>A (p.Ala1176Asp)
c.3842C>A (p.Ala1281Asp)
n.8414C>A
3g.9475793C=CA1344742801SETD5n.2986C=
c.4127C= (p.Ala1376=)
n.5020C=
n.2411C=
n.6273C=
c.4031C= (p.Ala1344=)
c.*4177C= (n.*4177C=)
c.*4100C= (n.*4100C=)
c.*4405C= (n.*4405C=)
c.*4136C= (n.*4136C=)
c.3737C= (p.Ala1246=)
c.2722+637C=
c.4088C= (p.Ala1363=)
c.3067C=
n.3372C=
n.4195C=
c.4205C= (p.Ala1402=)
c.4184C= (p.Ala1395=)
c.4166C= (p.Ala1389=)
c.4148C= (p.Ala1383=)
c.4109C= (p.Ala1370=)
c.4070C= (p.Ala1357=)
c.3794C= (p.Ala1265=)
c.3755C= (p.Ala1252=)
c.4145C= (p.Ala1382=)
c.4052C= (p.Ala1351=)
c.3527C= (p.Ala1176=)
c.3842C= (p.Ala1281=)
n.8414C=
3g.9475793C>GCA351693861SETD5n.2986C>G
c.4127C>G (p.Ala1376Gly)
n.5020C>G
n.2411C>G
n.6273C>G
c.4031C>G (p.Ala1344Gly)
c.*4177C>G (n.*4177C>G)
c.*4100C>G (n.*4100C>G)
c.*4405C>G (n.*4405C>G)
c.*4136C>G (n.*4136C>G)
c.3737C>G (p.Ala1246Gly)
c.2722+637C>G
c.4088C>G (p.Ala1363Gly)
c.3067C>G
n.3372C>G
n.4195C>G
c.4205C>G (p.Ala1402Gly)
c.4184C>G (p.Ala1395Gly)
c.4166C>G (p.Ala1389Gly)
c.4148C>G (p.Ala1383Gly)
c.4109C>G (p.Ala1370Gly)
c.4070C>G (p.Ala1357Gly)
c.3794C>G (p.Ala1265Gly)
c.3755C>G (p.Ala1252Gly)
c.4145C>G (p.Ala1382Gly)
c.4052C>G (p.Ala1351Gly)
c.3527C>G (p.Ala1176Gly)
c.3842C>G (p.Ala1281Gly)
n.8414C>G
 gnomAD v4
3g.9475793C>TCA351693864SETD5n.2986C>T
c.4127C>T (p.Ala1376Val)
n.5020C>T
n.2411C>T
n.6273C>T
c.4031C>T (p.Ala1344Val)
c.*4177C>T (n.*4177C>T)
c.*4100C>T (n.*4100C>T)
c.*4405C>T (n.*4405C>T)
c.*4136C>T (n.*4136C>T)
c.3737C>T (p.Ala1246Val)
c.2722+637C>T
c.4088C>T (p.Ala1363Val)
c.3067C>T
n.3372C>T
n.4195C>T
c.4205C>T (p.Ala1402Val)
c.4184C>T (p.Ala1395Val)
c.4166C>T (p.Ala1389Val)
c.4148C>T (p.Ala1383Val)
c.4109C>T (p.Ala1370Val)
c.4070C>T (p.Ala1357Val)
c.3794C>T (p.Ala1265Val)
c.3755C>T (p.Ala1252Val)
c.4145C>T (p.Ala1382Val)
c.4052C>T (p.Ala1351Val)
c.3527C>T (p.Ala1176Val)
c.3842C>T (p.Ala1281Val)
n.8414C>T
 dbSNP gnomAD v4
3g.9475794T>ACA432528546SETD5n.2987T>A
c.4128T>A (p.Ala1376=)
n.5021T>A
n.2412T>A
n.6274T>A
c.4032T>A (p.Ala1344=)
c.*4178T>A (n.*4178T>A)
c.*4101T>A (n.*4101T>A)
c.*4406T>A (n.*4406T>A)
c.*4137T>A (n.*4137T>A)
c.3738T>A (p.Ala1246=)
c.2722+638T>A
c.4089T>A (p.Ala1363=)
c.3068T>A
n.3373T>A
n.4196T>A
c.4206T>A (p.Ala1402=)
c.4185T>A (p.Ala1395=)
c.4167T>A (p.Ala1389=)
c.4149T>A (p.Ala1383=)
c.4110T>A (p.Ala1370=)
c.4071T>A (p.Ala1357=)
c.3795T>A (p.Ala1265=)
c.3756T>A (p.Ala1252=)
c.4146T>A (p.Ala1382=)
c.4053T>A (p.Ala1351=)
c.3528T>A (p.Ala1176=)
c.3843T>A (p.Ala1281=)
n.8415T>A
3g.9475794T>CCA432528548SETD5n.2987T>C
c.4128T>C (p.Ala1376=)
n.5021T>C
n.2412T>C
n.6274T>C
c.4032T>C (p.Ala1344=)
c.*4178T>C (n.*4178T>C)
c.*4101T>C (n.*4101T>C)
c.*4406T>C (n.*4406T>C)
c.*4137T>C (n.*4137T>C)
c.3738T>C (p.Ala1246=)
c.2722+638T>C
c.4089T>C (p.Ala1363=)
c.3068T>C
n.3373T>C
n.4196T>C
c.4206T>C (p.Ala1402=)
c.4185T>C (p.Ala1395=)
c.4167T>C (p.Ala1389=)
c.4149T>C (p.Ala1383=)
c.4110T>C (p.Ala1370=)
c.4071T>C (p.Ala1357=)
c.3795T>C (p.Ala1265=)
c.3756T>C (p.Ala1252=)
c.4146T>C (p.Ala1382=)
c.4053T>C (p.Ala1351=)
c.3528T>C (p.Ala1176=)
c.3843T>C (p.Ala1281=)
n.8415T>C
3g.9475794T>GCA432528550SETD5n.2987T>G
c.4128T>G (p.Ala1376=)
n.5021T>G
n.2412T>G
n.6274T>G
c.4032T>G (p.Ala1344=)
c.*4178T>G (n.*4178T>G)
c.*4101T>G (n.*4101T>G)
c.*4406T>G (n.*4406T>G)
c.*4137T>G (n.*4137T>G)
c.3738T>G (p.Ala1246=)
c.2722+638T>G
c.4089T>G (p.Ala1363=)
c.3068T>G
n.3373T>G
n.4196T>G
c.4206T>G (p.Ala1402=)
c.4185T>G (p.Ala1395=)
c.4167T>G (p.Ala1389=)
c.4149T>G (p.Ala1383=)
c.4110T>G (p.Ala1370=)
c.4071T>G (p.Ala1357=)
c.3795T>G (p.Ala1265=)
c.3756T>G (p.Ala1252=)
c.4146T>G (p.Ala1382=)
c.4053T>G (p.Ala1351=)
c.3528T>G (p.Ala1176=)
c.3843T>G (p.Ala1281=)
n.8415T>G
3g.9475795G>ACA351693868SETD5n.2988G>A
c.4129G>A (p.Ala1377Thr)
n.5022G>A
n.2413G>A
n.6275G>A
c.4033G>A (p.Ala1345Thr)
c.*4179G>A (n.*4179G>A)
c.*4102G>A (n.*4102G>A)
c.*4407G>A (n.*4407G>A)
c.*4138G>A (n.*4138G>A)
c.3739G>A (p.Ala1247Thr)
c.2722+639G>A
c.4090G>A (p.Ala1364Thr)
c.3069G>A
n.3374G>A
n.4197G>A
c.4207G>A (p.Ala1403Thr)
c.4186G>A (p.Ala1396Thr)
c.4168G>A (p.Ala1390Thr)
c.4150G>A (p.Ala1384Thr)
c.4111G>A (p.Ala1371Thr)
c.4072G>A (p.Ala1358Thr)
c.3796G>A (p.Ala1266Thr)
c.3757G>A (p.Ala1253Thr)
c.4147G>A (p.Ala1383Thr)
c.4054G>A (p.Ala1352Thr)
c.3529G>A (p.Ala1177Thr)
c.3844G>A (p.Ala1282Thr)
n.8416G>A
3g.9475795G>CCA351693869SETD5n.2988G>C
c.4129G>C (p.Ala1377Pro)
n.5022G>C
n.2413G>C
n.6275G>C
c.4033G>C (p.Ala1345Pro)
c.*4179G>C (n.*4179G>C)
c.*4102G>C (n.*4102G>C)
c.*4407G>C (n.*4407G>C)
c.*4138G>C (n.*4138G>C)
c.3739G>C (p.Ala1247Pro)
c.2722+639G>C
c.4090G>C (p.Ala1364Pro)
c.3069G>C
n.3374G>C
n.4197G>C
c.4207G>C (p.Ala1403Pro)
c.4186G>C (p.Ala1396Pro)
c.4168G>C (p.Ala1390Pro)
c.4150G>C (p.Ala1384Pro)
c.4111G>C (p.Ala1371Pro)
c.4072G>C (p.Ala1358Pro)
c.3796G>C (p.Ala1266Pro)
c.3757G>C (p.Ala1253Pro)
c.4147G>C (p.Ala1383Pro)
c.4054G>C (p.Ala1352Pro)
c.3529G>C (p.Ala1177Pro)
c.3844G>C (p.Ala1282Pro)
n.8416G>C
 dbSNP
3g.9475795G=CA1344742802SETD5n.2988G=
c.4129G= (p.Ala1377=)
n.5022G=
n.2413G=
n.6275G=
c.4033G= (p.Ala1345=)
c.*4179G= (n.*4179G=)
c.*4102G= (n.*4102G=)
c.*4407G= (n.*4407G=)
c.*4138G= (n.*4138G=)
c.3739G= (p.Ala1247=)
c.2722+639G=
c.4090G= (p.Ala1364=)
c.3069G=
n.3374G=
n.4197G=
c.4207G= (p.Ala1403=)
c.4186G= (p.Ala1396=)
c.4168G= (p.Ala1390=)
c.4150G= (p.Ala1384=)
c.4111G= (p.Ala1371=)
c.4072G= (p.Ala1358=)
c.3796G= (p.Ala1266=)
c.3757G= (p.Ala1253=)
c.4147G= (p.Ala1383=)
c.4054G= (p.Ala1352=)
c.3529G= (p.Ala1177=)
c.3844G= (p.Ala1282=)
n.8416G=
3g.9475795G>TCA351693871SETD5n.2988G>T
c.4129G>T (p.Ala1377Ser)
n.5022G>T
n.2413G>T
n.6275G>T
c.4033G>T (p.Ala1345Ser)
c.*4179G>T (n.*4179G>T)
c.*4102G>T (n.*4102G>T)
c.*4407G>T (n.*4407G>T)
c.*4138G>T (n.*4138G>T)
c.3739G>T (p.Ala1247Ser)
c.2722+639G>T
c.4090G>T (p.Ala1364Ser)
c.3069G>T
n.3374G>T
n.4197G>T
c.4207G>T (p.Ala1403Ser)
c.4186G>T (p.Ala1396Ser)
c.4168G>T (p.Ala1390Ser)
c.4150G>T (p.Ala1384Ser)
c.4111G>T (p.Ala1371Ser)
c.4072G>T (p.Ala1358Ser)
c.3796G>T (p.Ala1266Ser)
c.3757G>T (p.Ala1253Ser)
c.4147G>T (p.Ala1383Ser)
c.4054G>T (p.Ala1352Ser)
c.3529G>T (p.Ala1177Ser)
c.3844G>T (p.Ala1282Ser)
n.8416G>T
3g.9475796C>ACA351693872SETD5n.2989C>A
c.4130C>A (p.Ala1377Asp)
n.5023C>A
n.2414C>A
n.6276C>A
c.4034C>A (p.Ala1345Asp)
c.*4180C>A (n.*4180C>A)
c.*4103C>A (n.*4103C>A)
c.*4408C>A (n.*4408C>A)
c.*4139C>A (n.*4139C>A)
c.3740C>A (p.Ala1247Asp)
c.2722+640C>A
c.4091C>A (p.Ala1364Asp)
c.3070C>A
n.3375C>A
n.4198C>A
c.4208C>A (p.Ala1403Asp)
c.4187C>A (p.Ala1396Asp)
c.4169C>A (p.Ala1390Asp)
c.4151C>A (p.Ala1384Asp)
c.4112C>A (p.Ala1371Asp)
c.4073C>A (p.Ala1358Asp)
c.3797C>A (p.Ala1266Asp)
c.3758C>A (p.Ala1253Asp)
c.4148C>A (p.Ala1383Asp)
c.4055C>A (p.Ala1352Asp)
c.3530C>A (p.Ala1177Asp)
c.3845C>A (p.Ala1282Asp)
n.8417C>A
3g.9475796C=CA1344742803SETD5n.2989C=
c.4130C= (p.Ala1377=)
n.5023C=
n.2414C=
n.6276C=
c.4034C= (p.Ala1345=)
c.*4180C= (n.*4180C=)
c.*4103C= (n.*4103C=)
c.*4408C= (n.*4408C=)
c.*4139C= (n.*4139C=)
c.3740C= (p.Ala1247=)
c.2722+640C=
c.4091C= (p.Ala1364=)
c.3070C=
n.3375C=
n.4198C=
c.4208C= (p.Ala1403=)
c.4187C= (p.Ala1396=)
c.4169C= (p.Ala1390=)
c.4151C= (p.Ala1384=)
c.4112C= (p.Ala1371=)
c.4073C= (p.Ala1358=)
c.3797C= (p.Ala1266=)
c.3758C= (p.Ala1253=)
c.4148C= (p.Ala1383=)
c.4055C= (p.Ala1352=)
c.3530C= (p.Ala1177=)
c.3845C= (p.Ala1282=)
n.8417C=
3g.9475796C>GCA351693874SETD5n.2989C>G
c.4130C>G (p.Ala1377Gly)
n.5023C>G
n.2414C>G
n.6276C>G
c.4034C>G (p.Ala1345Gly)
c.*4180C>G (n.*4180C>G)
c.*4103C>G (n.*4103C>G)
c.*4408C>G (n.*4408C>G)
c.*4139C>G (n.*4139C>G)
c.3740C>G (p.Ala1247Gly)
c.2722+640C>G
c.4091C>G (p.Ala1364Gly)
c.3070C>G
n.3375C>G
n.4198C>G
c.4208C>G (p.Ala1403Gly)
c.4187C>G (p.Ala1396Gly)
c.4169C>G (p.Ala1390Gly)
c.4151C>G (p.Ala1384Gly)
c.4112C>G (p.Ala1371Gly)
c.4073C>G (p.Ala1358Gly)
c.3797C>G (p.Ala1266Gly)
c.3758C>G (p.Ala1253Gly)
c.4148C>G (p.Ala1383Gly)
c.4055C>G (p.Ala1352Gly)
c.3530C>G (p.Ala1177Gly)
c.3845C>G (p.Ala1282Gly)
n.8417C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475796C>TCA351693876SETD5n.2989C>T
c.4130C>T (p.Ala1377Val)
n.5023C>T
n.2414C>T
n.6276C>T
c.4034C>T (p.Ala1345Val)
c.*4180C>T (n.*4180C>T)
c.*4103C>T (n.*4103C>T)
c.*4408C>T (n.*4408C>T)
c.*4139C>T (n.*4139C>T)
c.3740C>T (p.Ala1247Val)
c.2722+640C>T
c.4091C>T (p.Ala1364Val)
c.3070C>T
n.3375C>T
n.4198C>T
c.4208C>T (p.Ala1403Val)
c.4187C>T (p.Ala1396Val)
c.4169C>T (p.Ala1390Val)
c.4151C>T (p.Ala1384Val)
c.4112C>T (p.Ala1371Val)
c.4073C>T (p.Ala1358Val)
c.3797C>T (p.Ala1266Val)
c.3758C>T (p.Ala1253Val)
c.4148C>T (p.Ala1383Val)
c.4055C>T (p.Ala1352Val)
c.3530C>T (p.Ala1177Val)
c.3845C>T (p.Ala1282Val)
n.8417C>T
3g.9475797T>ACA432528551SETD5n.2990T>A
c.4131T>A (p.Ala1377=)
n.5024T>A
n.2415T>A
n.6277T>A
c.4035T>A (p.Ala1345=)
c.*4181T>A (n.*4181T>A)
c.*4104T>A (n.*4104T>A)
c.*4409T>A (n.*4409T>A)
c.*4140T>A (n.*4140T>A)
c.3741T>A (p.Ala1247=)
c.2722+641T>A
c.4092T>A (p.Ala1364=)
c.3071T>A
n.3376T>A
n.4199T>A
c.4209T>A (p.Ala1403=)
c.4188T>A (p.Ala1396=)
c.4170T>A (p.Ala1390=)
c.4152T>A (p.Ala1384=)
c.4113T>A (p.Ala1371=)
c.4074T>A (p.Ala1358=)
c.3798T>A (p.Ala1266=)
c.3759T>A (p.Ala1253=)
c.4149T>A (p.Ala1383=)
c.4056T>A (p.Ala1352=)
c.3531T>A (p.Ala1177=)
c.3846T>A (p.Ala1282=)
n.8418T>A
3g.9475797T>CCA432528552SETD5n.2990T>C
c.4131T>C (p.Ala1377=)
n.5024T>C
n.2415T>C
n.6277T>C
c.4035T>C (p.Ala1345=)
c.*4181T>C (n.*4181T>C)
c.*4104T>C (n.*4104T>C)
c.*4409T>C (n.*4409T>C)
c.*4140T>C (n.*4140T>C)
c.3741T>C (p.Ala1247=)
c.2722+641T>C
c.4092T>C (p.Ala1364=)
c.3071T>C
n.3376T>C
n.4199T>C
c.4209T>C (p.Ala1403=)
c.4188T>C (p.Ala1396=)
c.4170T>C (p.Ala1390=)
c.4152T>C (p.Ala1384=)
c.4113T>C (p.Ala1371=)
c.4074T>C (p.Ala1358=)
c.3798T>C (p.Ala1266=)
c.3759T>C (p.Ala1253=)
c.4149T>C (p.Ala1383=)
c.4056T>C (p.Ala1352=)
c.3531T>C (p.Ala1177=)
c.3846T>C (p.Ala1282=)
n.8418T>C
3g.9475797T>GCA432528553SETD5n.2990T>G
c.4131T>G (p.Ala1377=)
n.5024T>G
n.2415T>G
n.6277T>G
c.4035T>G (p.Ala1345=)
c.*4181T>G (n.*4181T>G)
c.*4104T>G (n.*4104T>G)
c.*4409T>G (n.*4409T>G)
c.*4140T>G (n.*4140T>G)
c.3741T>G (p.Ala1247=)
c.2722+641T>G
c.4092T>G (p.Ala1364=)
c.3071T>G
n.3376T>G
n.4199T>G
c.4209T>G (p.Ala1403=)
c.4188T>G (p.Ala1396=)
c.4170T>G (p.Ala1390=)
c.4152T>G (p.Ala1384=)
c.4113T>G (p.Ala1371=)
c.4074T>G (p.Ala1358=)
c.3798T>G (p.Ala1266=)
c.3759T>G (p.Ala1253=)
c.4149T>G (p.Ala1383=)
c.4056T>G (p.Ala1352=)
c.3531T>G (p.Ala1177=)
c.3846T>G (p.Ala1282=)
n.8418T>G
3g.9475798A>CCA351693878SETD5n.2991A>C
c.4132A>C (p.Ser1378Arg)
n.5025A>C
n.2416A>C
n.6278A>C
c.4036A>C (p.Ser1346Arg)
c.*4182A>C (n.*4182A>C)
c.*4105A>C (n.*4105A>C)
c.*4410A>C (n.*4410A>C)
c.*4141A>C (n.*4141A>C)
c.3742A>C (p.Ser1248Arg)
c.2722+642A>C
c.4093A>C (p.Ser1365Arg)
c.3072A>C
n.3377A>C
n.4200A>C
c.4210A>C (p.Ser1404Arg)
c.4189A>C (p.Ser1397Arg)
c.4171A>C (p.Ser1391Arg)
c.4153A>C (p.Ser1385Arg)
c.4114A>C (p.Ser1372Arg)
c.4075A>C (p.Ser1359Arg)
c.3799A>C (p.Ser1267Arg)
c.3760A>C (p.Ser1254Arg)
c.4150A>C (p.Ser1384Arg)
c.4057A>C (p.Ser1353Arg)
c.3532A>C (p.Ser1178Arg)
c.3847A>C (p.Ser1283Arg)
n.8419A>C
3g.9475798A>GCA351693879SETD5n.2991A>G
c.4132A>G (p.Ser1378Gly)
n.5025A>G
n.2416A>G
n.6278A>G
c.4036A>G (p.Ser1346Gly)
c.*4182A>G (n.*4182A>G)
c.*4105A>G (n.*4105A>G)
c.*4410A>G (n.*4410A>G)
c.*4141A>G (n.*4141A>G)
c.3742A>G (p.Ser1248Gly)
c.2722+642A>G
c.4093A>G (p.Ser1365Gly)
c.3072A>G
n.3377A>G
n.4200A>G
c.4210A>G (p.Ser1404Gly)
c.4189A>G (p.Ser1397Gly)
c.4171A>G (p.Ser1391Gly)
c.4153A>G (p.Ser1385Gly)
c.4114A>G (p.Ser1372Gly)
c.4075A>G (p.Ser1359Gly)
c.3799A>G (p.Ser1267Gly)
c.3760A>G (p.Ser1254Gly)
c.4150A>G (p.Ser1384Gly)
c.4057A>G (p.Ser1353Gly)
c.3532A>G (p.Ser1178Gly)
c.3847A>G (p.Ser1283Gly)
n.8419A>G
3g.9475798A>TCA351693880SETD5n.2991A>T
c.4132A>T (p.Ser1378Cys)
n.5025A>T
n.2416A>T
n.6278A>T
c.4036A>T (p.Ser1346Cys)
c.*4182A>T (n.*4182A>T)
c.*4105A>T (n.*4105A>T)
c.*4410A>T (n.*4410A>T)
c.*4141A>T (n.*4141A>T)
c.3742A>T (p.Ser1248Cys)
c.2722+642A>T
c.4093A>T (p.Ser1365Cys)
c.3072A>T
n.3377A>T
n.4200A>T
c.4210A>T (p.Ser1404Cys)
c.4189A>T (p.Ser1397Cys)
c.4171A>T (p.Ser1391Cys)
c.4153A>T (p.Ser1385Cys)
c.4114A>T (p.Ser1372Cys)
c.4075A>T (p.Ser1359Cys)
c.3799A>T (p.Ser1267Cys)
c.3760A>T (p.Ser1254Cys)
c.4150A>T (p.Ser1384Cys)
c.4057A>T (p.Ser1353Cys)
c.3532A>T (p.Ser1178Cys)
c.3847A>T (p.Ser1283Cys)
n.8419A>T
3g.9475799G>ACA351693886SETD5n.2992G>A
c.4133G>A (p.Ser1378Asn)
n.5026G>A
n.2417G>A
n.6279G>A
c.4037G>A (p.Ser1346Asn)
c.*4183G>A (n.*4183G>A)
c.*4106G>A (n.*4106G>A)
c.*4411G>A (n.*4411G>A)
c.*4142G>A (n.*4142G>A)
c.3743G>A (p.Ser1248Asn)
c.2722+643G>A
c.4094G>A (p.Ser1365Asn)
c.3073G>A
n.3378G>A
n.4201G>A
c.4211G>A (p.Ser1404Asn)
c.4190G>A (p.Ser1397Asn)
c.4172G>A (p.Ser1391Asn)
c.4154G>A (p.Ser1385Asn)
c.4115G>A (p.Ser1372Asn)
c.4076G>A (p.Ser1359Asn)
c.3800G>A (p.Ser1267Asn)
c.3761G>A (p.Ser1254Asn)
c.4151G>A (p.Ser1384Asn)
c.4058G>A (p.Ser1353Asn)
c.3533G>A (p.Ser1178Asn)
c.3848G>A (p.Ser1283Asn)
n.8420G>A
3g.9475799G>CCA351693883SETD5n.2992G>C
c.4133G>C (p.Ser1378Thr)
n.5026G>C
n.2417G>C
n.6279G>C
c.4037G>C (p.Ser1346Thr)
c.*4183G>C (n.*4183G>C)
c.*4106G>C (n.*4106G>C)
c.*4411G>C (n.*4411G>C)
c.*4142G>C (n.*4142G>C)
c.3743G>C (p.Ser1248Thr)
c.2722+643G>C
c.4094G>C (p.Ser1365Thr)
c.3073G>C
n.3378G>C
n.4201G>C
c.4211G>C (p.Ser1404Thr)
c.4190G>C (p.Ser1397Thr)
c.4172G>C (p.Ser1391Thr)
c.4154G>C (p.Ser1385Thr)
c.4115G>C (p.Ser1372Thr)
c.4076G>C (p.Ser1359Thr)
c.3800G>C (p.Ser1267Thr)
c.3761G>C (p.Ser1254Thr)
c.4151G>C (p.Ser1384Thr)
c.4058G>C (p.Ser1353Thr)
c.3533G>C (p.Ser1178Thr)
c.3848G>C (p.Ser1283Thr)
n.8420G>C
 gnomAD v4
3g.9475799G>TCA351693884SETD5n.2992G>T
c.4133G>T (p.Ser1378Ile)
n.5026G>T
n.2417G>T
n.6279G>T
c.4037G>T (p.Ser1346Ile)
c.*4183G>T (n.*4183G>T)
c.*4106G>T (n.*4106G>T)
c.*4411G>T (n.*4411G>T)
c.*4142G>T (n.*4142G>T)
c.3743G>T (p.Ser1248Ile)
c.2722+643G>T
c.4094G>T (p.Ser1365Ile)
c.3073G>T
n.3378G>T
n.4201G>T
c.4211G>T (p.Ser1404Ile)
c.4190G>T (p.Ser1397Ile)
c.4172G>T (p.Ser1391Ile)
c.4154G>T (p.Ser1385Ile)
c.4115G>T (p.Ser1372Ile)
c.4076G>T (p.Ser1359Ile)
c.3800G>T (p.Ser1267Ile)
c.3761G>T (p.Ser1254Ile)
c.4151G>T (p.Ser1384Ile)
c.4058G>T (p.Ser1353Ile)
c.3533G>T (p.Ser1178Ile)
c.3848G>T (p.Ser1283Ile)
n.8420G>T
 gnomAD v4
3g.9475800C>ACA351693889SETD5n.2993C>A
c.4134C>A (p.Ser1378Arg)
n.5027C>A
n.2418C>A
n.6280C>A
c.4038C>A (p.Ser1346Arg)
c.*4184C>A (n.*4184C>A)
c.*4107C>A (n.*4107C>A)
c.*4412C>A (n.*4412C>A)
c.*4143C>A (n.*4143C>A)
c.3744C>A (p.Ser1248Arg)
c.2722+644C>A
c.4095C>A (p.Ser1365Arg)
c.3074C>A
n.3379C>A
n.4202C>A
c.4212C>A (p.Ser1404Arg)
c.4191C>A (p.Ser1397Arg)
c.4173C>A (p.Ser1391Arg)
c.4155C>A (p.Ser1385Arg)
c.4116C>A (p.Ser1372Arg)
c.4077C>A (p.Ser1359Arg)
c.3801C>A (p.Ser1267Arg)
c.3762C>A (p.Ser1254Arg)
c.4152C>A (p.Ser1384Arg)
c.4059C>A (p.Ser1353Arg)
c.3534C>A (p.Ser1178Arg)
c.3849C>A (p.Ser1283Arg)
n.8421C>A
3g.9475800C=CA1344742804SETD5n.2993C=
c.4134C= (p.Ser1378=)
n.5027C=
n.2418C=
n.6280C=
c.4038C= (p.Ser1346=)
c.*4184C= (n.*4184C=)
c.*4107C= (n.*4107C=)
c.*4412C= (n.*4412C=)
c.*4143C= (n.*4143C=)
c.3744C= (p.Ser1248=)
c.2722+644C=
c.4095C= (p.Ser1365=)
c.3074C=
n.3379C=
n.4202C=
c.4212C= (p.Ser1404=)
c.4191C= (p.Ser1397=)
c.4173C= (p.Ser1391=)
c.4155C= (p.Ser1385=)
c.4116C= (p.Ser1372=)
c.4077C= (p.Ser1359=)
c.3801C= (p.Ser1267=)
c.3762C= (p.Ser1254=)
c.4152C= (p.Ser1384=)
c.4059C= (p.Ser1353=)
c.3534C= (p.Ser1178=)
c.3849C= (p.Ser1283=)
n.8421C=
3g.9475800C>GCA351693890SETD5n.2993C>G
c.4134C>G (p.Ser1378Arg)
n.5027C>G
n.2418C>G
n.6280C>G
c.4038C>G (p.Ser1346Arg)
c.*4184C>G (n.*4184C>G)
c.*4107C>G (n.*4107C>G)
c.*4412C>G (n.*4412C>G)
c.*4143C>G (n.*4143C>G)
c.3744C>G (p.Ser1248Arg)
c.2722+644C>G
c.4095C>G (p.Ser1365Arg)
c.3074C>G
n.3379C>G
n.4202C>G
c.4212C>G (p.Ser1404Arg)
c.4191C>G (p.Ser1397Arg)
c.4173C>G (p.Ser1391Arg)
c.4155C>G (p.Ser1385Arg)
c.4116C>G (p.Ser1372Arg)
c.4077C>G (p.Ser1359Arg)
c.3801C>G (p.Ser1267Arg)
c.3762C>G (p.Ser1254Arg)
c.4152C>G (p.Ser1384Arg)
c.4059C>G (p.Ser1353Arg)
c.3534C>G (p.Ser1178Arg)
c.3849C>G (p.Ser1283Arg)
n.8421C>G
3g.9475800C>TCA432528561SETD5n.2993C>T
c.4134C>T (p.Ser1378=)
n.5027C>T
n.2418C>T
n.6280C>T
c.4038C>T (p.Ser1346=)
c.*4184C>T (n.*4184C>T)
c.*4107C>T (n.*4107C>T)
c.*4412C>T (n.*4412C>T)
c.*4143C>T (n.*4143C>T)
c.3744C>T (p.Ser1248=)
c.2722+644C>T
c.4095C>T (p.Ser1365=)
c.3074C>T
n.3379C>T
n.4202C>T
c.4212C>T (p.Ser1404=)
c.4191C>T (p.Ser1397=)
c.4173C>T (p.Ser1391=)
c.4155C>T (p.Ser1385=)
c.4116C>T (p.Ser1372=)
c.4077C>T (p.Ser1359=)
c.3801C>T (p.Ser1267=)
c.3762C>T (p.Ser1254=)
c.4152C>T (p.Ser1384=)
c.4059C>T (p.Ser1353=)
c.3534C>T (p.Ser1178=)
c.3849C>T (p.Ser1283=)
n.8421C>T
 dbSNP gnomAD v4
3g.9475801C>ACA351693891SETD5n.2994C>A
c.4135C>A (p.Pro1379Thr)
n.5028C>A
n.2419C>A
n.6281C>A
c.4039C>A (p.Pro1347Thr)
c.*4185C>A (n.*4185C>A)
c.*4108C>A (n.*4108C>A)
c.*4413C>A (n.*4413C>A)
c.*4144C>A (n.*4144C>A)
c.3745C>A (p.Pro1249Thr)
c.2722+645C>A
c.4096C>A (p.Pro1366Thr)
c.3075C>A
n.3380C>A
n.4203C>A
c.4213C>A (p.Pro1405Thr)
c.4192C>A (p.Pro1398Thr)
c.4174C>A (p.Pro1392Thr)
c.4156C>A (p.Pro1386Thr)
c.4117C>A (p.Pro1373Thr)
c.4078C>A (p.Pro1360Thr)
c.3802C>A (p.Pro1268Thr)
c.3763C>A (p.Pro1255Thr)
c.4153C>A (p.Pro1385Thr)
c.4060C>A (p.Pro1354Thr)
c.3535C>A (p.Pro1179Thr)
c.3850C>A (p.Pro1284Thr)
n.8422C>A
 COSMIC COSMIC
3g.9475801C>GCA351693892SETD5n.2994C>G
c.4135C>G (p.Pro1379Ala)
n.5028C>G
n.2419C>G
n.6281C>G
c.4039C>G (p.Pro1347Ala)
c.*4185C>G (n.*4185C>G)
c.*4108C>G (n.*4108C>G)
c.*4413C>G (n.*4413C>G)
c.*4144C>G (n.*4144C>G)
c.3745C>G (p.Pro1249Ala)
c.2722+645C>G
c.4096C>G (p.Pro1366Ala)
c.3075C>G
n.3380C>G
n.4203C>G
c.4213C>G (p.Pro1405Ala)
c.4192C>G (p.Pro1398Ala)
c.4174C>G (p.Pro1392Ala)
c.4156C>G (p.Pro1386Ala)
c.4117C>G (p.Pro1373Ala)
c.4078C>G (p.Pro1360Ala)
c.3802C>G (p.Pro1268Ala)
c.3763C>G (p.Pro1255Ala)
c.4153C>G (p.Pro1385Ala)
c.4060C>G (p.Pro1354Ala)
c.3535C>G (p.Pro1179Ala)
c.3850C>G (p.Pro1284Ala)
n.8422C>G
3g.9475801C>TCA351693894SETD5n.2994C>T
c.4135C>T (p.Pro1379Ser)
n.5028C>T
n.2419C>T
n.6281C>T
c.4039C>T (p.Pro1347Ser)
c.*4185C>T (n.*4185C>T)
c.*4108C>T (n.*4108C>T)
c.*4413C>T (n.*4413C>T)
c.*4144C>T (n.*4144C>T)
c.3745C>T (p.Pro1249Ser)
c.2722+645C>T
c.4096C>T (p.Pro1366Ser)
c.3075C>T
n.3380C>T
n.4203C>T
c.4213C>T (p.Pro1405Ser)
c.4192C>T (p.Pro1398Ser)
c.4174C>T (p.Pro1392Ser)
c.4156C>T (p.Pro1386Ser)
c.4117C>T (p.Pro1373Ser)
c.4078C>T (p.Pro1360Ser)
c.3802C>T (p.Pro1268Ser)
c.3763C>T (p.Pro1255Ser)
c.4153C>T (p.Pro1385Ser)
c.4060C>T (p.Pro1354Ser)
c.3535C>T (p.Pro1179Ser)
c.3850C>T (p.Pro1284Ser)
n.8422C>T
 gnomAD v4
3g.9475802C>ACA351693895SETD5n.2995C>A
c.4136C>A (p.Pro1379His)
n.5029C>A
n.2420C>A
n.6282C>A
c.4040C>A (p.Pro1347His)
c.*4186C>A (n.*4186C>A)
c.*4109C>A (n.*4109C>A)
c.*4414C>A (n.*4414C>A)
c.*4145C>A (n.*4145C>A)
c.3746C>A (p.Pro1249His)
c.2722+646C>A
c.4097C>A (p.Pro1366His)
c.3076C>A
n.3381C>A
n.4204C>A
c.4214C>A (p.Pro1405His)
c.4193C>A (p.Pro1398His)
c.4175C>A (p.Pro1392His)
c.4157C>A (p.Pro1386His)
c.4118C>A (p.Pro1373His)
c.4079C>A (p.Pro1360His)
c.3803C>A (p.Pro1268His)
c.3764C>A (p.Pro1255His)
c.4154C>A (p.Pro1385His)
c.4061C>A (p.Pro1354His)
c.3536C>A (p.Pro1179His)
c.3851C>A (p.Pro1284His)
n.8423C>A
3g.9475802C>GCA351693896SETD5n.2995C>G
c.4136C>G (p.Pro1379Arg)
n.5029C>G
n.2420C>G
n.6282C>G
c.4040C>G (p.Pro1347Arg)
c.*4186C>G (n.*4186C>G)
c.*4109C>G (n.*4109C>G)
c.*4414C>G (n.*4414C>G)
c.*4145C>G (n.*4145C>G)
c.3746C>G (p.Pro1249Arg)
c.2722+646C>G
c.4097C>G (p.Pro1366Arg)
c.3076C>G
n.3381C>G
n.4204C>G
c.4214C>G (p.Pro1405Arg)
c.4193C>G (p.Pro1398Arg)
c.4175C>G (p.Pro1392Arg)
c.4157C>G (p.Pro1386Arg)
c.4118C>G (p.Pro1373Arg)
c.4079C>G (p.Pro1360Arg)
c.3803C>G (p.Pro1268Arg)
c.3764C>G (p.Pro1255Arg)
c.4154C>G (p.Pro1385Arg)
c.4061C>G (p.Pro1354Arg)
c.3536C>G (p.Pro1179Arg)
c.3851C>G (p.Pro1284Arg)
n.8423C>G
3g.9475802C>TCA351693898SETD5n.2995C>T
c.4136C>T (p.Pro1379Leu)
n.5029C>T
n.2420C>T
n.6282C>T
c.4040C>T (p.Pro1347Leu)
c.*4186C>T (n.*4186C>T)
c.*4109C>T (n.*4109C>T)
c.*4414C>T (n.*4414C>T)
c.*4145C>T (n.*4145C>T)
c.3746C>T (p.Pro1249Leu)
c.2722+646C>T
c.4097C>T (p.Pro1366Leu)
c.3076C>T
n.3381C>T
n.4204C>T
c.4214C>T (p.Pro1405Leu)
c.4193C>T (p.Pro1398Leu)
c.4175C>T (p.Pro1392Leu)
c.4157C>T (p.Pro1386Leu)
c.4118C>T (p.Pro1373Leu)
c.4079C>T (p.Pro1360Leu)
c.3803C>T (p.Pro1268Leu)
c.3764C>T (p.Pro1255Leu)
c.4154C>T (p.Pro1385Leu)
c.4061C>T (p.Pro1354Leu)
c.3536C>T (p.Pro1179Leu)
c.3851C>T (p.Pro1284Leu)
n.8423C>T
3g.9475803T>ACA432528563SETD5n.2996T>A
c.4137T>A (p.Pro1379=)
n.5030T>A
n.2421T>A
n.6283T>A
c.4041T>A (p.Pro1347=)
c.*4187T>A (n.*4187T>A)
c.*4110T>A (n.*4110T>A)
c.*4415T>A (n.*4415T>A)
c.*4146T>A (n.*4146T>A)
c.3747T>A (p.Pro1249=)
c.2722+647T>A
c.4098T>A (p.Pro1366=)
c.3077T>A
n.3382T>A
n.4205T>A
c.4215T>A (p.Pro1405=)
c.4194T>A (p.Pro1398=)
c.4176T>A (p.Pro1392=)
c.4158T>A (p.Pro1386=)
c.4119T>A (p.Pro1373=)
c.4080T>A (p.Pro1360=)
c.3804T>A (p.Pro1268=)
c.3765T>A (p.Pro1255=)
c.4155T>A (p.Pro1385=)
c.4062T>A (p.Pro1354=)
c.3537T>A (p.Pro1179=)
c.3852T>A (p.Pro1284=)
n.8424T>A
3g.9475803T>CCA432528565SETD5n.2996T>C
c.4137T>C (p.Pro1379=)
n.5030T>C
n.2421T>C
n.6283T>C
c.4041T>C (p.Pro1347=)
c.*4187T>C (n.*4187T>C)
c.*4110T>C (n.*4110T>C)
c.*4415T>C (n.*4415T>C)
c.*4146T>C (n.*4146T>C)
c.3747T>C (p.Pro1249=)
c.2722+647T>C
c.4098T>C (p.Pro1366=)
c.3077T>C
n.3382T>C
n.4205T>C
c.4215T>C (p.Pro1405=)
c.4194T>C (p.Pro1398=)
c.4176T>C (p.Pro1392=)
c.4158T>C (p.Pro1386=)
c.4119T>C (p.Pro1373=)
c.4080T>C (p.Pro1360=)
c.3804T>C (p.Pro1268=)
c.3765T>C (p.Pro1255=)
c.4155T>C (p.Pro1385=)
c.4062T>C (p.Pro1354=)
c.3537T>C (p.Pro1179=)
c.3852T>C (p.Pro1284=)
n.8424T>C
3g.9475803T>GCA432528566SETD5n.2996T>G
c.4137T>G (p.Pro1379=)
n.5030T>G
n.2421T>G
n.6283T>G
c.4041T>G (p.Pro1347=)
c.*4187T>G (n.*4187T>G)
c.*4110T>G (n.*4110T>G)
c.*4415T>G (n.*4415T>G)
c.*4146T>G (n.*4146T>G)
c.3747T>G (p.Pro1249=)
c.2722+647T>G
c.4098T>G (p.Pro1366=)
c.3077T>G
n.3382T>G
n.4205T>G
c.4215T>G (p.Pro1405=)
c.4194T>G (p.Pro1398=)
c.4176T>G (p.Pro1392=)
c.4158T>G (p.Pro1386=)
c.4119T>G (p.Pro1373=)
c.4080T>G (p.Pro1360=)
c.3804T>G (p.Pro1268=)
c.3765T>G (p.Pro1255=)
c.4155T>G (p.Pro1385=)
c.4062T>G (p.Pro1354=)
c.3537T>G (p.Pro1179=)
c.3852T>G (p.Pro1284=)
n.8424T>G
3g.9475804A=CA1344742805SETD5n.2997A=
c.4138A= (p.Thr1380=)
n.5031A=
n.2422A=
n.6284A=
c.4042A= (p.Thr1348=)
c.*4188A= (n.*4188A=)
c.*4111A= (n.*4111A=)
c.*4416A= (n.*4416A=)
c.*4147A= (n.*4147A=)
c.3748A= (p.Thr1250=)
c.2722+648A=
c.4099A= (p.Thr1367=)
c.3078A=
n.3383A=
n.4206A=
c.4216A= (p.Thr1406=)
c.4195A= (p.Thr1399=)
c.4177A= (p.Thr1393=)
c.4159A= (p.Thr1387=)
c.4120A= (p.Thr1374=)
c.4081A= (p.Thr1361=)
c.3805A= (p.Thr1269=)
c.3766A= (p.Thr1256=)
c.4156A= (p.Thr1386=)
c.4063A= (p.Thr1355=)
c.3538A= (p.Thr1180=)
c.3853A= (p.Thr1285=)
n.8425A=
3g.9475804A>CCA351693900SETD5n.2997A>C
c.4138A>C (p.Thr1380Pro)
n.5031A>C
n.2422A>C
n.6284A>C
c.4042A>C (p.Thr1348Pro)
c.*4188A>C (n.*4188A>C)
c.*4111A>C (n.*4111A>C)
c.*4416A>C (n.*4416A>C)
c.*4147A>C (n.*4147A>C)
c.3748A>C (p.Thr1250Pro)
c.2722+648A>C
c.4099A>C (p.Thr1367Pro)
c.3078A>C
n.3383A>C
n.4206A>C
c.4216A>C (p.Thr1406Pro)
c.4195A>C (p.Thr1399Pro)
c.4177A>C (p.Thr1393Pro)
c.4159A>C (p.Thr1387Pro)
c.4120A>C (p.Thr1374Pro)
c.4081A>C (p.Thr1361Pro)
c.3805A>C (p.Thr1269Pro)
c.3766A>C (p.Thr1256Pro)
c.4156A>C (p.Thr1386Pro)
c.4063A>C (p.Thr1355Pro)
c.3538A>C (p.Thr1180Pro)
c.3853A>C (p.Thr1285Pro)
n.8425A>C
3g.9475804A>GCA351693902SETD5n.2997A>G
c.4138A>G (p.Thr1380Ala)
n.5031A>G
n.2422A>G
n.6284A>G
c.4042A>G (p.Thr1348Ala)
c.*4188A>G (n.*4188A>G)
c.*4111A>G (n.*4111A>G)
c.*4416A>G (n.*4416A>G)
c.*4147A>G (n.*4147A>G)
c.3748A>G (p.Thr1250Ala)
c.2722+648A>G
c.4099A>G (p.Thr1367Ala)
c.3078A>G
n.3383A>G
n.4206A>G
c.4216A>G (p.Thr1406Ala)
c.4195A>G (p.Thr1399Ala)
c.4177A>G (p.Thr1393Ala)
c.4159A>G (p.Thr1387Ala)
c.4120A>G (p.Thr1374Ala)
c.4081A>G (p.Thr1361Ala)
c.3805A>G (p.Thr1269Ala)
c.3766A>G (p.Thr1256Ala)
c.4156A>G (p.Thr1386Ala)
c.4063A>G (p.Thr1355Ala)
c.3538A>G (p.Thr1180Ala)
c.3853A>G (p.Thr1285Ala)
n.8425A>G
 dbSNP gnomAD v3 gnomAD v4
3g.9475804A>TCA351693903SETD5n.2997A>T
c.4138A>T (p.Thr1380Ser)
n.5031A>T
n.2422A>T
n.6284A>T
c.4042A>T (p.Thr1348Ser)
c.*4188A>T (n.*4188A>T)
c.*4111A>T (n.*4111A>T)
c.*4416A>T (n.*4416A>T)
c.*4147A>T (n.*4147A>T)
c.3748A>T (p.Thr1250Ser)
c.2722+648A>T
c.4099A>T (p.Thr1367Ser)
c.3078A>T
n.3383A>T
n.4206A>T
c.4216A>T (p.Thr1406Ser)
c.4195A>T (p.Thr1399Ser)
c.4177A>T (p.Thr1393Ser)
c.4159A>T (p.Thr1387Ser)
c.4120A>T (p.Thr1374Ser)
c.4081A>T (p.Thr1361Ser)
c.3805A>T (p.Thr1269Ser)
c.3766A>T (p.Thr1256Ser)
c.4156A>T (p.Thr1386Ser)
c.4063A>T (p.Thr1355Ser)
c.3538A>T (p.Thr1180Ser)
c.3853A>T (p.Thr1285Ser)
n.8425A>T
 dbSNP gnomAD v2 gnomAD v4
3g.9475805C>ACA351693909SETD5n.2998C>A
c.4139C>A (p.Thr1380Asn)
n.5032C>A
n.2423C>A
n.6285C>A
c.4043C>A (p.Thr1348Asn)
c.*4189C>A (n.*4189C>A)
c.*4112C>A (n.*4112C>A)
c.*4417C>A (n.*4417C>A)
c.*4148C>A (n.*4148C>A)
c.3749C>A (p.Thr1250Asn)
c.2722+649C>A
c.4100C>A (p.Thr1367Asn)
c.3079C>A
n.3384C>A
n.4207C>A
c.4217C>A (p.Thr1406Asn)
c.4196C>A (p.Thr1399Asn)
c.4178C>A (p.Thr1393Asn)
c.4160C>A (p.Thr1387Asn)
c.4121C>A (p.Thr1374Asn)
c.4082C>A (p.Thr1361Asn)
c.3806C>A (p.Thr1269Asn)
c.3767C>A (p.Thr1256Asn)
c.4157C>A (p.Thr1386Asn)
c.4064C>A (p.Thr1355Asn)
c.3539C>A (p.Thr1180Asn)
c.3854C>A (p.Thr1285Asn)
n.8426C>A
3g.9475805C=CA1344742806SETD5n.2998C=
c.4139C= (p.Thr1380=)
n.5032C=
n.2423C=
n.6285C=
c.4043C= (p.Thr1348=)
c.*4189C= (n.*4189C=)
c.*4112C= (n.*4112C=)
c.*4417C= (n.*4417C=)
c.*4148C= (n.*4148C=)
c.3749C= (p.Thr1250=)
c.2722+649C=
c.4100C= (p.Thr1367=)
c.3079C=
n.3384C=
n.4207C=
c.4217C= (p.Thr1406=)
c.4196C= (p.Thr1399=)
c.4178C= (p.Thr1393=)
c.4160C= (p.Thr1387=)
c.4121C= (p.Thr1374=)
c.4082C= (p.Thr1361=)
c.3806C= (p.Thr1269=)
c.3767C= (p.Thr1256=)
c.4157C= (p.Thr1386=)
c.4064C= (p.Thr1355=)
c.3539C= (p.Thr1180=)
c.3854C= (p.Thr1285=)
n.8426C=
3g.9475805C>GCA351693908SETD5n.2998C>G
c.4139C>G (p.Thr1380Ser)
n.5032C>G
n.2423C>G
n.6285C>G
c.4043C>G (p.Thr1348Ser)
c.*4189C>G (n.*4189C>G)
c.*4112C>G (n.*4112C>G)
c.*4417C>G (n.*4417C>G)
c.*4148C>G (n.*4148C>G)
c.3749C>G (p.Thr1250Ser)
c.2722+649C>G
c.4100C>G (p.Thr1367Ser)
c.3079C>G
n.3384C>G
n.4207C>G
c.4217C>G (p.Thr1406Ser)
c.4196C>G (p.Thr1399Ser)
c.4178C>G (p.Thr1393Ser)
c.4160C>G (p.Thr1387Ser)
c.4121C>G (p.Thr1374Ser)
c.4082C>G (p.Thr1361Ser)
c.3806C>G (p.Thr1269Ser)
c.3767C>G (p.Thr1256Ser)
c.4157C>G (p.Thr1386Ser)
c.4064C>G (p.Thr1355Ser)
c.3539C>G (p.Thr1180Ser)
c.3854C>G (p.Thr1285Ser)
n.8426C>G
3g.9475805C>TCA351693906SETD5n.2998C>T
c.4139C>T (p.Thr1380Ile)
n.5032C>T
n.2423C>T
n.6285C>T
c.4043C>T (p.Thr1348Ile)
c.*4189C>T (n.*4189C>T)
c.*4112C>T (n.*4112C>T)
c.*4417C>T (n.*4417C>T)
c.*4148C>T (n.*4148C>T)
c.3749C>T (p.Thr1250Ile)
c.2722+649C>T
c.4100C>T (p.Thr1367Ile)
c.3079C>T
n.3384C>T
n.4207C>T
c.4217C>T (p.Thr1406Ile)
c.4196C>T (p.Thr1399Ile)
c.4178C>T (p.Thr1393Ile)
c.4160C>T (p.Thr1387Ile)
c.4121C>T (p.Thr1374Ile)
c.4082C>T (p.Thr1361Ile)
c.3806C>T (p.Thr1269Ile)
c.3767C>T (p.Thr1256Ile)
c.4157C>T (p.Thr1386Ile)
c.4064C>T (p.Thr1355Ile)
c.3539C>T (p.Thr1180Ile)
c.3854C>T (p.Thr1285Ile)
n.8426C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.9475806C>ACA432528572SETD5n.2999C>A
c.4140C>A (p.Thr1380=)
n.5033C>A
n.2424C>A
n.6286C>A
c.4044C>A (p.Thr1348=)
c.*4190C>A (n.*4190C>A)
c.*4113C>A (n.*4113C>A)
c.*4418C>A (n.*4418C>A)
c.*4149C>A (n.*4149C>A)
c.3750C>A (p.Thr1250=)
c.2722+650C>A
c.4101C>A (p.Thr1367=)
c.3080C>A
n.3385C>A
n.4208C>A
c.4218C>A (p.Thr1406=)
c.4197C>A (p.Thr1399=)
c.4179C>A (p.Thr1393=)
c.4161C>A (p.Thr1387=)
c.4122C>A (p.Thr1374=)
c.4083C>A (p.Thr1361=)
c.3807C>A (p.Thr1269=)
c.3768C>A (p.Thr1256=)
c.4158C>A (p.Thr1386=)
c.4065C>A (p.Thr1355=)
c.3540C>A (p.Thr1180=)
c.3855C>A (p.Thr1285=)
n.8427C>A
3g.9475806C>GCA432528573SETD5n.2999C>G
c.4140C>G (p.Thr1380=)
n.5033C>G
n.2424C>G
n.6286C>G
c.4044C>G (p.Thr1348=)
c.*4190C>G (n.*4190C>G)
c.*4113C>G (n.*4113C>G)
c.*4418C>G (n.*4418C>G)
c.*4149C>G (n.*4149C>G)
c.3750C>G (p.Thr1250=)
c.2722+650C>G
c.4101C>G (p.Thr1367=)
c.3080C>G
n.3385C>G
n.4208C>G
c.4218C>G (p.Thr1406=)
c.4197C>G (p.Thr1399=)
c.4179C>G (p.Thr1393=)
c.4161C>G (p.Thr1387=)
c.4122C>G (p.Thr1374=)
c.4083C>G (p.Thr1361=)
c.3807C>G (p.Thr1269=)
c.3768C>G (p.Thr1256=)
c.4158C>G (p.Thr1386=)
c.4065C>G (p.Thr1355=)
c.3540C>G (p.Thr1180=)
c.3855C>G (p.Thr1285=)
n.8427C>G
3g.9475806C>TCA432528574SETD5n.2999C>T
c.4140C>T (p.Thr1380=)
n.5033C>T
n.2424C>T
n.6286C>T
c.4044C>T (p.Thr1348=)
c.*4190C>T (n.*4190C>T)
c.*4113C>T (n.*4113C>T)
c.*4418C>T (n.*4418C>T)
c.*4149C>T (n.*4149C>T)
c.3750C>T (p.Thr1250=)
c.2722+650C>T
c.4101C>T (p.Thr1367=)
c.3080C>T
n.3385C>T
n.4208C>T
c.4218C>T (p.Thr1406=)
c.4197C>T (p.Thr1399=)
c.4179C>T (p.Thr1393=)
c.4161C>T (p.Thr1387=)
c.4122C>T (p.Thr1374=)
c.4083C>T (p.Thr1361=)
c.3807C>T (p.Thr1269=)
c.3768C>T (p.Thr1256=)
c.4158C>T (p.Thr1386=)
c.4065C>T (p.Thr1355=)
c.3540C>T (p.Thr1180=)
c.3855C>T (p.Thr1285=)
n.8427C>T
 ClinVar
3g.9475807C>ACA351693912SETD5n.3000C>A
c.4141C>A (p.Leu1381Met)
n.5034C>A
n.2425C>A
n.6287C>A
c.4045C>A (p.Leu1349Met)
c.*4191C>A (n.*4191C>A)
c.*4114C>A (n.*4114C>A)
c.*4419C>A (n.*4419C>A)
c.*4150C>A (n.*4150C>A)
c.3751C>A (p.Leu1251Met)
c.2722+651C>A
c.4102C>A (p.Leu1368Met)
c.3081C>A
n.3386C>A
n.4209C>A
c.4219C>A (p.Leu1407Met)
c.4198C>A (p.Leu1400Met)
c.4180C>A (p.Leu1394Met)
c.4162C>A (p.Leu1388Met)
c.4123C>A (p.Leu1375Met)
c.4084C>A (p.Leu1362Met)
c.3808C>A (p.Leu1270Met)
c.3769C>A (p.Leu1257Met)
c.4159C>A (p.Leu1387Met)
c.4066C>A (p.Leu1356Met)
c.3541C>A (p.Leu1181Met)
c.3856C>A (p.Leu1286Met)
n.8428C>A
3g.9475807C>GCA351693914SETD5n.3000C>G
c.4141C>G (p.Leu1381Val)
n.5034C>G
n.2425C>G
n.6287C>G
c.4045C>G (p.Leu1349Val)
c.*4191C>G (n.*4191C>G)
c.*4114C>G (n.*4114C>G)
c.*4419C>G (n.*4419C>G)
c.*4150C>G (n.*4150C>G)
c.3751C>G (p.Leu1251Val)
c.2722+651C>G
c.4102C>G (p.Leu1368Val)
c.3081C>G
n.3386C>G
n.4209C>G
c.4219C>G (p.Leu1407Val)
c.4198C>G (p.Leu1400Val)
c.4180C>G (p.Leu1394Val)
c.4162C>G (p.Leu1388Val)
c.4123C>G (p.Leu1375Val)
c.4084C>G (p.Leu1362Val)
c.3808C>G (p.Leu1270Val)
c.3769C>G (p.Leu1257Val)
c.4159C>G (p.Leu1387Val)
c.4066C>G (p.Leu1356Val)
c.3541C>G (p.Leu1181Val)
c.3856C>G (p.Leu1286Val)
n.8428C>G
3g.9475807C>TCA432528575SETD5n.3000C>T
c.4141C>T (p.Leu1381=)
n.5034C>T
n.2425C>T
n.6287C>T
c.4045C>T (p.Leu1349=)
c.*4191C>T (n.*4191C>T)
c.*4114C>T (n.*4114C>T)
c.*4419C>T (n.*4419C>T)
c.*4150C>T (n.*4150C>T)
c.3751C>T (p.Leu1251=)
c.2722+651C>T
c.4102C>T (p.Leu1368=)
c.3081C>T
n.3386C>T
n.4209C>T
c.4219C>T (p.Leu1407=)
c.4198C>T (p.Leu1400=)
c.4180C>T (p.Leu1394=)
c.4162C>T (p.Leu1388=)
c.4123C>T (p.Leu1375=)
c.4084C>T (p.Leu1362=)
c.3808C>T (p.Leu1270=)
c.3769C>T (p.Leu1257=)
c.4159C>T (p.Leu1387=)
c.4066C>T (p.Leu1356=)
c.3541C>T (p.Leu1181=)
c.3856C>T (p.Leu1286=)
n.8428C>T
 COSMIC COSMIC
3g.9475808T>ACA351693916SETD5n.3001T>A
c.4142T>A (p.Leu1381Gln)
n.5035T>A
n.2426T>A
n.6288T>A
c.4046T>A (p.Leu1349Gln)
c.*4192T>A (n.*4192T>A)
c.*4115T>A (n.*4115T>A)
c.*4420T>A (n.*4420T>A)
c.*4151T>A (n.*4151T>A)
c.3752T>A (p.Leu1251Gln)
c.2722+652T>A
c.4103T>A (p.Leu1368Gln)
c.3082T>A
n.3387T>A
n.4210T>A
c.4220T>A (p.Leu1407Gln)
c.4199T>A (p.Leu1400Gln)
c.4181T>A (p.Leu1394Gln)
c.4163T>A (p.Leu1388Gln)
c.4124T>A (p.Leu1375Gln)
c.4085T>A (p.Leu1362Gln)
c.3809T>A (p.Leu1270Gln)
c.3770T>A (p.Leu1257Gln)
c.4160T>A (p.Leu1387Gln)
c.4067T>A (p.Leu1356Gln)
c.3542T>A (p.Leu1181Gln)
c.3857T>A (p.Leu1286Gln)
n.8429T>A
 dbSNP
3g.9475808T>CCA351693918SETD5n.3001T>C
c.4142T>C (p.Leu1381Pro)
n.5035T>C
n.2426T>C
n.6288T>C
c.4046T>C (p.Leu1349Pro)
c.*4192T>C (n.*4192T>C)
c.*4115T>C (n.*4115T>C)
c.*4420T>C (n.*4420T>C)
c.*4151T>C (n.*4151T>C)
c.3752T>C (p.Leu1251Pro)
c.2722+652T>C
c.4103T>C (p.Leu1368Pro)
c.3082T>C
n.3387T>C
n.4210T>C
c.4220T>C (p.Leu1407Pro)
c.4199T>C (p.Leu1400Pro)
c.4181T>C (p.Leu1394Pro)
c.4163T>C (p.Leu1388Pro)
c.4124T>C (p.Leu1375Pro)
c.4085T>C (p.Leu1362Pro)
c.3809T>C (p.Leu1270Pro)
c.3770T>C (p.Leu1257Pro)
c.4160T>C (p.Leu1387Pro)
c.4067T>C (p.Leu1356Pro)
c.3542T>C (p.Leu1181Pro)
c.3857T>C (p.Leu1286Pro)
n.8429T>C
 dbSNP gnomAD v3 gnomAD v4
3g.9475808T>GCA351693920SETD5n.3001T>G
c.4142T>G (p.Leu1381Arg)
n.5035T>G
n.2426T>G
n.6288T>G
c.4046T>G (p.Leu1349Arg)
c.*4192T>G (n.*4192T>G)
c.*4115T>G (n.*4115T>G)
c.*4420T>G (n.*4420T>G)
c.*4151T>G (n.*4151T>G)
c.3752T>G (p.Leu1251Arg)
c.2722+652T>G
c.4103T>G (p.Leu1368Arg)
c.3082T>G
n.3387T>G
n.4210T>G
c.4220T>G (p.Leu1407Arg)
c.4199T>G (p.Leu1400Arg)
c.4181T>G (p.Leu1394Arg)
c.4163T>G (p.Leu1388Arg)
c.4124T>G (p.Leu1375Arg)
c.4085T>G (p.Leu1362Arg)
c.3809T>G (p.Leu1270Arg)
c.3770T>G (p.Leu1257Arg)
c.4160T>G (p.Leu1387Arg)
c.4067T>G (p.Leu1356Arg)
c.3542T>G (p.Leu1181Arg)
c.3857T>G (p.Leu1286Arg)
n.8429T>G
3g.9475808T=CA1344742807SETD5n.3001T=
c.4142T= (p.Leu1381=)
n.5035T=
n.2426T=
n.6288T=
c.4046T= (p.Leu1349=)
c.*4192T= (n.*4192T=)
c.*4115T= (n.*4115T=)
c.*4420T= (n.*4420T=)
c.*4151T= (n.*4151T=)
c.3752T= (p.Leu1251=)
c.2722+652T=
c.4103T= (p.Leu1368=)
c.3082T=
n.3387T=
n.4210T=
c.4220T= (p.Leu1407=)
c.4199T= (p.Leu1400=)
c.4181T= (p.Leu1394=)
c.4163T= (p.Leu1388=)
c.4124T= (p.Leu1375=)
c.4085T= (p.Leu1362=)
c.3809T= (p.Leu1270=)
c.3770T= (p.Leu1257=)
c.4160T= (p.Leu1387=)
c.4067T= (p.Leu1356=)
c.3542T= (p.Leu1181=)
c.3857T= (p.Leu1286=)
n.8429T=
3g.9475809G>ACA432528578SETD5n.3002G>A
c.4143G>A (p.Leu1381=)
n.5036G>A
n.2427G>A
n.6289G>A
c.4047G>A (p.Leu1349=)
c.*4193G>A (n.*4193G>A)
c.*4116G>A (n.*4116G>A)
c.*4421G>A (n.*4421G>A)
c.*4152G>A (n.*4152G>A)
c.3753G>A (p.Leu1251=)
c.2722+653G>A
c.4104G>A (p.Leu1368=)
c.3083G>A
n.3388G>A
n.4211G>A
c.4221G>A (p.Leu1407=)
c.4200G>A (p.Leu1400=)
c.4182G>A (p.Leu1394=)
c.4164G>A (p.Leu1388=)
c.4125G>A (p.Leu1375=)
c.4086G>A (p.Leu1362=)
c.3810G>A (p.Leu1270=)
c.3771G>A (p.Leu1257=)
c.4161G>A (p.Leu1387=)
c.4068G>A (p.Leu1356=)
c.3543G>A (p.Leu1181=)
c.3858G>A (p.Leu1286=)
n.8430G>A
 dbSNP gnomAD v2 gnomAD v4
3g.9475809G>CCA432528579SETD5n.3002G>C
c.4143G>C (p.Leu1381=)
n.5036G>C
n.2427G>C
n.6289G>C
c.4047G>C (p.Leu1349=)
c.*4193G>C (n.*4193G>C)
c.*4116G>C (n.*4116G>C)
c.*4421G>C (n.*4421G>C)
c.*4152G>C (n.*4152G>C)
c.3753G>C (p.Leu1251=)
c.2722+653G>C
c.4104G>C (p.Leu1368=)
c.3083G>C
n.3388G>C
n.4211G>C
c.4221G>C (p.Leu1407=)
c.4200G>C (p.Leu1400=)
c.4182G>C (p.Leu1394=)
c.4164G>C (p.Leu1388=)
c.4125G>C (p.Leu1375=)
c.4086G>C (p.Leu1362=)
c.3810G>C (p.Leu1270=)
c.3771G>C (p.Leu1257=)
c.4161G>C (p.Leu1387=)
c.4068G>C (p.Leu1356=)
c.3543G>C (p.Leu1181=)
c.3858G>C (p.Leu1286=)
n.8430G>C
3g.9475809G=CA1344742808SETD5n.3002G=
c.4143G= (p.Leu1381=)
n.5036G=
n.2427G=
n.6289G=
c.4047G= (p.Leu1349=)
c.*4193G= (n.*4193G=)
c.*4116G= (n.*4116G=)
c.*4421G= (n.*4421G=)
c.*4152G= (n.*4152G=)
c.3753G= (p.Leu1251=)
c.2722+653G=
c.4104G= (p.Leu1368=)
c.3083G=
n.3388G=
n.4211G=
c.4221G= (p.Leu1407=)
c.4200G= (p.Leu1400=)
c.4182G= (p.Leu1394=)
c.4164G= (p.Leu1388=)
c.4125G= (p.Leu1375=)
c.4086G= (p.Leu1362=)
c.3810G= (p.Leu1270=)
c.3771G= (p.Leu1257=)
c.4161G= (p.Leu1387=)
c.4068G= (p.Leu1356=)
c.3543G= (p.Leu1181=)
c.3858G= (p.Leu1286=)
n.8430G=
3g.9475809G>TCA432528580SETD5n.3002G>T
c.4143G>T (p.Leu1381=)
n.5036G>T
n.2427G>T
n.6289G>T
c.4047G>T (p.Leu1349=)
c.*4193G>T (n.*4193G>T)
c.*4116G>T (n.*4116G>T)
c.*4421G>T (n.*4421G>T)
c.*4152G>T (n.*4152G>T)
c.3753G>T (p.Leu1251=)
c.2722+653G>T
c.4104G>T (p.Leu1368=)
c.3083G>T
n.3388G>T
n.4211G>T
c.4221G>T (p.Leu1407=)
c.4200G>T (p.Leu1400=)
c.4182G>T (p.Leu1394=)
c.4164G>T (p.Leu1388=)
c.4125G>T (p.Leu1375=)
c.4086G>T (p.Leu1362=)
c.3810G>T (p.Leu1270=)
c.3771G>T (p.Leu1257=)
c.4161G>T (p.Leu1387=)
c.4068G>T (p.Leu1356=)
c.3543G>T (p.Leu1181=)
c.3858G>T (p.Leu1286=)
n.8430G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.9475810C>ACA351693922SETD5n.3003C>A
c.4144C>A (p.Gln1382Lys)
n.5037C>A
n.2428C>A
n.6290C>A
c.4048C>A (p.Gln1350Lys)
c.*4194C>A (n.*4194C>A)
c.*4117C>A (n.*4117C>A)
c.*4422C>A (n.*4422C>A)
c.*4153C>A (n.*4153C>A)
c.3754C>A (p.Gln1252Lys)
c.2722+654C>A
c.4105C>A (p.Gln1369Lys)
c.3084C>A
n.3389C>A
n.4212C>A
c.4222C>A (p.Gln1408Lys)
c.4201C>A (p.Gln1401Lys)
c.4183C>A (p.Gln1395Lys)
c.4165C>A (p.Gln1389Lys)
c.4126C>A (p.Gln1376Lys)
c.4087C>A (p.Gln1363Lys)
c.3811C>A (p.Gln1271Lys)
c.3772C>A (p.Gln1258Lys)
c.4162C>A (p.Gln1388Lys)
c.4069C>A (p.Gln1357Lys)
c.3544C>A (p.Gln1182Lys)
c.3859C>A (p.Gln1287Lys)
n.8431C>A
3g.9475810C>GCA351693923SETD5n.3003C>G
c.4144C>G (p.Gln1382Glu)
n.5037C>G
n.2428C>G
n.6290C>G
c.4048C>G (p.Gln1350Glu)
c.*4194C>G (n.*4194C>G)
c.*4117C>G (n.*4117C>G)
c.*4422C>G (n.*4422C>G)
c.*4153C>G (n.*4153C>G)
c.3754C>G (p.Gln1252Glu)
c.2722+654C>G
c.4105C>G (p.Gln1369Glu)
c.3084C>G
n.3389C>G
n.4212C>G
c.4222C>G (p.Gln1408Glu)
c.4201C>G (p.Gln1401Glu)
c.4183C>G (p.Gln1395Glu)
c.4165C>G (p.Gln1389Glu)
c.4126C>G (p.Gln1376Glu)
c.4087C>G (p.Gln1363Glu)
c.3811C>G (p.Gln1271Glu)
c.3772C>G (p.Gln1258Glu)
c.4162C>G (p.Gln1388Glu)
c.4069C>G (p.Gln1357Glu)
c.3544C>G (p.Gln1182Glu)
c.3859C>G (p.Gln1287Glu)
n.8431C>G
3g.9475810C>TCA351693924SETD5n.3003C>T
c.4144C>T (p.Gln1382Ter)
n.5037C>T
n.2428C>T
n.6290C>T
c.4048C>T (p.Gln1350Ter)
c.*4194C>T (n.*4194C>T)
c.*4117C>T (n.*4117C>T)
c.*4422C>T (n.*4422C>T)
c.*4153C>T (n.*4153C>T)
c.3754C>T (p.Gln1252Ter)
c.2722+654C>T
c.4105C>T (p.Gln1369Ter)
c.3084C>T
n.3389C>T
n.4212C>T
c.4222C>T (p.Gln1408Ter)
c.4201C>T (p.Gln1401Ter)
c.4183C>T (p.Gln1395Ter)
c.4165C>T (p.Gln1389Ter)
c.4126C>T (p.Gln1376Ter)
c.4087C>T (p.Gln1363Ter)
c.3811C>T (p.Gln1271Ter)
c.3772C>T (p.Gln1258Ter)
c.4162C>T (p.Gln1388Ter)
c.4069C>T (p.Gln1357Ter)
c.3544C>T (p.Gln1182Ter)
c.3859C>T (p.Gln1287Ter)
n.8431C>T
3g.9475811A>CCA351693927SETD5n.3004A>C
c.4145A>C (p.Gln1382Pro)
n.5038A>C
n.2429A>C
n.6291A>C
c.4049A>C (p.Gln1350Pro)
c.*4195A>C (n.*4195A>C)
c.*4118A>C (n.*4118A>C)
c.*4423A>C (n.*4423A>C)
c.*4154A>C (n.*4154A>C)
c.3755A>C (p.Gln1252Pro)
c.2722+655A>C
c.4106A>C (p.Gln1369Pro)
c.3085A>C
n.3390A>C
n.4213A>C
c.4223A>C (p.Gln1408Pro)
c.4202A>C (p.Gln1401Pro)
c.4184A>C (p.Gln1395Pro)
c.4166A>C (p.Gln1389Pro)
c.4127A>C (p.Gln1376Pro)
c.4088A>C (p.Gln1363Pro)
c.3812A>C (p.Gln1271Pro)
c.3773A>C (p.Gln1258Pro)
c.4163A>C (p.Gln1388Pro)
c.4070A>C (p.Gln1357Pro)
c.3545A>C (p.Gln1182Pro)
c.3860A>C (p.Gln1287Pro)
n.8432A>C
3g.9475811A>GCA351693928SETD5n.3004A>G
c.4145A>G (p.Gln1382Arg)
n.5038A>G
n.2429A>G
n.6291A>G
c.4049A>G (p.Gln1350Arg)
c.*4195A>G (n.*4195A>G)
c.*4118A>G (n.*4118A>G)
c.*4423A>G (n.*4423A>G)
c.*4154A>G (n.*4154A>G)
c.3755A>G (p.Gln1252Arg)
c.2722+655A>G
c.4106A>G (p.Gln1369Arg)
c.3085A>G
n.3390A>G
n.4213A>G
c.4223A>G (p.Gln1408Arg)
c.4202A>G (p.Gln1401Arg)
c.4184A>G (p.Gln1395Arg)
c.4166A>G (p.Gln1389Arg)
c.4127A>G (p.Gln1376Arg)
c.4088A>G (p.Gln1363Arg)
c.3812A>G (p.Gln1271Arg)
c.3773A>G (p.Gln1258Arg)
c.4163A>G (p.Gln1388Arg)
c.4070A>G (p.Gln1357Arg)
c.3545A>G (p.Gln1182Arg)
c.3860A>G (p.Gln1287Arg)
n.8432A>G
 gnomAD v4
3g.9475811A>TCA351693929SETD5n.3004A>T
c.4145A>T (p.Gln1382Leu)
n.5038A>T
n.2429A>T
n.6291A>T
c.4049A>T (p.Gln1350Leu)
c.*4195A>T (n.*4195A>T)
c.*4118A>T (n.*4118A>T)
c.*4423A>T (n.*4423A>T)
c.*4154A>T (n.*4154A>T)
c.3755A>T (p.Gln1252Leu)
c.2722+655A>T
c.4106A>T (p.Gln1369Leu)
c.3085A>T
n.3390A>T
n.4213A>T
c.4223A>T (p.Gln1408Leu)
c.4202A>T (p.Gln1401Leu)
c.4184A>T (p.Gln1395Leu)
c.4166A>T (p.Gln1389Leu)
c.4127A>T (p.Gln1376Leu)
c.4088A>T (p.Gln1363Leu)
c.3812A>T (p.Gln1271Leu)
c.3773A>T (p.Gln1258Leu)
c.4163A>T (p.Gln1388Leu)
c.4070A>T (p.Gln1357Leu)
c.3545A>T (p.Gln1182Leu)
c.3860A>T (p.Gln1287Leu)
n.8432A>T
3g.9475812G>ACA432528587SETD5n.3005G>A
c.4146G>A (p.Gln1382=)
n.5039G>A
n.2430G>A
n.6292G>A
c.4050G>A (p.Gln1350=)
c.*4196G>A (n.*4196G>A)
c.*4119G>A (n.*4119G>A)
c.*4424G>A (n.*4424G>A)
c.*4155G>A (n.*4155G>A)
c.3756G>A (p.Gln1252=)
c.2722+656G>A
c.4107G>A (p.Gln1369=)
c.3086G>A
n.3391G>A
n.4214G>A
c.4224G>A (p.Gln1408=)
c.4203G>A (p.Gln1401=)
c.4185G>A (p.Gln1395=)
c.4167G>A (p.Gln1389=)
c.4128G>A (p.Gln1376=)
c.4089G>A (p.Gln1363=)
c.3813G>A (p.Gln1271=)
c.3774G>A (p.Gln1258=)
c.4164G>A (p.Gln1388=)
c.4071G>A (p.Gln1357=)
c.3546G>A (p.Gln1182=)
c.3861G>A (p.Gln1287=)
n.8433G>A
 gnomAD v4
3g.9475812G>CCA351693935SETD5n.3005G>C
c.4146G>C (p.Gln1382His)
n.5039G>C
n.2430G>C
n.6292G>C
c.4050G>C (p.Gln1350His)
c.*4196G>C (n.*4196G>C)
c.*4119G>C (n.*4119G>C)
c.*4424G>C (n.*4424G>C)
c.*4155G>C (n.*4155G>C)
c.3756G>C (p.Gln1252His)
c.2722+656G>C
c.4107G>C (p.Gln1369His)
c.3086G>C
n.3391G>C
n.4214G>C
c.4224G>C (p.Gln1408His)
c.4203G>C (p.Gln1401His)
c.4185G>C (p.Gln1395His)
c.4167G>C (p.Gln1389His)
c.4128G>C (p.Gln1376His)
c.4089G>C (p.Gln1363His)
c.3813G>C (p.Gln1271His)
c.3774G>C (p.Gln1258His)
c.4164G>C (p.Gln1388His)
c.4071G>C (p.Gln1357His)
c.3546G>C (p.Gln1182His)
c.3861G>C (p.Gln1287His)
n.8433G>C
3g.9475812G>TCA351693936SETD5n.3005G>T
c.4146G>T (p.Gln1382His)
n.5039G>T
n.2430G>T
n.6292G>T
c.4050G>T (p.Gln1350His)
c.*4196G>T (n.*4196G>T)
c.*4119G>T (n.*4119G>T)
c.*4424G>T (n.*4424G>T)
c.*4155G>T (n.*4155G>T)
c.3756G>T (p.Gln1252His)
c.2722+656G>T
c.4107G>T (p.Gln1369His)
c.3086G>T
n.3391G>T
n.4214G>T
c.4224G>T (p.Gln1408His)
c.4203G>T (p.Gln1401His)
c.4185G>T (p.Gln1395His)
c.4167G>T (p.Gln1389His)
c.4128G>T (p.Gln1376His)
c.4089G>T (p.Gln1363His)
c.3813G>T (p.Gln1271His)
c.3774G>T (p.Gln1258His)
c.4164G>T (p.Gln1388His)
c.4071G>T (p.Gln1357His)
c.3546G>T (p.Gln1182His)
c.3861G>T (p.Gln1287His)
n.8433G>T
3g.9475813G>ACA351693948SETD5n.3006G>A
c.4147G>A (p.Gly1383Arg)
n.5040G>A
n.2431G>A
n.6293G>A
c.4051G>A (p.Gly1351Arg)
c.*4197G>A (n.*4197G>A)
c.*4120G>A (n.*4120G>A)
c.*4425G>A (n.*4425G>A)
c.*4156G>A (n.*4156G>A)
c.3757G>A (p.Gly1253Arg)
c.2722+657G>A
c.4108G>A (p.Gly1370Arg)
c.3087G>A
n.3392G>A
n.4215G>A
c.4225G>A (p.Gly1409Arg)
c.4204G>A (p.Gly1402Arg)
c.4186G>A (p.Gly1396Arg)
c.4168G>A (p.Gly1390Arg)
c.4129G>A (p.Gly1377Arg)
c.4090G>A (p.Gly1364Arg)
c.3814G>A (p.Gly1272Arg)
c.3775G>A (p.Gly1259Arg)
c.4165G>A (p.Gly1389Arg)
c.4072G>A (p.Gly1358Arg)
c.3547G>A (p.Gly1183Arg)
c.3862G>A (p.Gly1288Arg)
n.8434G>A
3g.9475813G>CCA351693941SETD5n.3006G>C
c.4147G>C (p.Gly1383Arg)
n.5040G>C
n.2431G>C
n.6293G>C
c.4051G>C (p.Gly1351Arg)
c.*4197G>C (n.*4197G>C)
c.*4120G>C (n.*4120G>C)
c.*4425G>C (n.*4425G>C)
c.*4156G>C (n.*4156G>C)
c.3757G>C (p.Gly1253Arg)
c.2722+657G>C
c.4108G>C (p.Gly1370Arg)
c.3087G>C
n.3392G>C
n.4215G>C
c.4225G>C (p.Gly1409Arg)
c.4204G>C (p.Gly1402Arg)
c.4186G>C (p.Gly1396Arg)
c.4168G>C (p.Gly1390Arg)
c.4129G>C (p.Gly1377Arg)
c.4090G>C (p.Gly1364Arg)
c.3814G>C (p.Gly1272Arg)
c.3775G>C (p.Gly1259Arg)
c.4165G>C (p.Gly1389Arg)
c.4072G>C (p.Gly1358Arg)
c.3547G>C (p.Gly1183Arg)
c.3862G>C (p.Gly1288Arg)
n.8434G>C
3g.9475813G>TCA351693945SETD5n.3006G>T
c.4147G>T (p.Gly1383Ter)
n.5040G>T
n.2431G>T
n.6293G>T
c.4051G>T (p.Gly1351Ter)
c.*4197G>T (n.*4197G>T)
c.*4120G>T (n.*4120G>T)
c.*4425G>T (n.*4425G>T)
c.*4156G>T (n.*4156G>T)
c.3757G>T (p.Gly1253Ter)
c.2722+657G>T
c.4108G>T (p.Gly1370Ter)
c.3087G>T
n.3392G>T
n.4215G>T
c.4225G>T (p.Gly1409Ter)
c.4204G>T (p.Gly1402Ter)
c.4186G>T (p.Gly1396Ter)
c.4168G>T (p.Gly1390Ter)
c.4129G>T (p.Gly1377Ter)
c.4090G>T (p.Gly1364Ter)
c.3814G>T (p.Gly1272Ter)
c.3775G>T (p.Gly1259Ter)
c.4165G>T (p.Gly1389Ter)
c.4072G>T (p.Gly1358Ter)
c.3547G>T (p.Gly1183Ter)
c.3862G>T (p.Gly1288Ter)
n.8434G>T
3g.9475814G>ACA351693952SETD5n.3007G>A
c.4148G>A (p.Gly1383Glu)
n.5041G>A
n.2432G>A
n.6294G>A
c.4052G>A (p.Gly1351Glu)
c.*4198G>A (n.*4198G>A)
c.*4121G>A (n.*4121G>A)
c.*4426G>A (n.*4426G>A)
c.*4157G>A (n.*4157G>A)
c.3758G>A (p.Gly1253Glu)
c.2722+658G>A
c.4109G>A (p.Gly1370Glu)
c.3088G>A
n.3393G>A
n.4216G>A
c.4226G>A (p.Gly1409Glu)
c.4205G>A (p.Gly1402Glu)
c.4187G>A (p.Gly1396Glu)
c.4169G>A (p.Gly1390Glu)
c.4130G>A (p.Gly1377Glu)
c.4091G>A (p.Gly1364Glu)
c.3815G>A (p.Gly1272Glu)
c.3776G>A (p.Gly1259Glu)
c.4166G>A (p.Gly1389Glu)
c.4073G>A (p.Gly1358Glu)
c.3548G>A (p.Gly1183Glu)
c.3863G>A (p.Gly1288Glu)
n.8435G>A
 dbSNP gnomAD v4
3g.9475814G>CCA351693955SETD5n.3007G>C
c.4148G>C (p.Gly1383Ala)
n.5041G>C
n.2432G>C
n.6294G>C
c.4052G>C (p.Gly1351Ala)
c.*4198G>C (n.*4198G>C)
c.*4121G>C (n.*4121G>C)
c.*4426G>C (n.*4426G>C)
c.*4157G>C (n.*4157G>C)
c.3758G>C (p.Gly1253Ala)
c.2722+658G>C
c.4109G>C (p.Gly1370Ala)
c.3088G>C
n.3393G>C
n.4216G>C
c.4226G>C (p.Gly1409Ala)
c.4205G>C (p.Gly1402Ala)
c.4187G>C (p.Gly1396Ala)
c.4169G>C (p.Gly1390Ala)
c.4130G>C (p.Gly1377Ala)
c.4091G>C (p.Gly1364Ala)
c.3815G>C (p.Gly1272Ala)
c.3776G>C (p.Gly1259Ala)
c.4166G>C (p.Gly1389Ala)
c.4073G>C (p.Gly1358Ala)
c.3548G>C (p.Gly1183Ala)
c.3863G>C (p.Gly1288Ala)
n.8435G>C
3g.9475814G=CA1344742809SETD5n.3007G=
c.4148G= (p.Gly1383=)
n.5041G=
n.2432G=
n.6294G=
c.4052G= (p.Gly1351=)
c.*4198G= (n.*4198G=)
c.*4121G= (n.*4121G=)
c.*4426G= (n.*4426G=)
c.*4157G= (n.*4157G=)
c.3758G= (p.Gly1253=)
c.2722+658G=
c.4109G= (p.Gly1370=)
c.3088G=
n.3393G=
n.4216G=
c.4226G= (p.Gly1409=)
c.4205G= (p.Gly1402=)
c.4187G= (p.Gly1396=)
c.4169G= (p.Gly1390=)
c.4130G= (p.Gly1377=)
c.4091G= (p.Gly1364=)
c.3815G= (p.Gly1272=)
c.3776G= (p.Gly1259=)
c.4166G= (p.Gly1389=)
c.4073G= (p.Gly1358=)
c.3548G= (p.Gly1183=)
c.3863G= (p.Gly1288=)
n.8435G=
3g.9475814G>TCA351693958SETD5n.3007G>T
c.4148G>T (p.Gly1383Val)
n.5041G>T
n.2432G>T
n.6294G>T
c.4052G>T (p.Gly1351Val)
c.*4198G>T (n.*4198G>T)
c.*4121G>T (n.*4121G>T)
c.*4426G>T (n.*4426G>T)
c.*4157G>T (n.*4157G>T)
c.3758G>T (p.Gly1253Val)
c.2722+658G>T
c.4109G>T (p.Gly1370Val)
c.3088G>T
n.3393G>T
n.4216G>T
c.4226G>T (p.Gly1409Val)
c.4205G>T (p.Gly1402Val)
c.4187G>T (p.Gly1396Val)
c.4169G>T (p.Gly1390Val)
c.4130G>T (p.Gly1377Val)
c.4091G>T (p.Gly1364Val)
c.3815G>T (p.Gly1272Val)
c.3776G>T (p.Gly1259Val)
c.4166G>T (p.Gly1389Val)
c.4073G>T (p.Gly1358Val)
c.3548G>T (p.Gly1183Val)
c.3863G>T (p.Gly1288Val)
n.8435G>T
3g.9475815A>CCA432528599SETD5n.3008A>C
c.4149A>C (p.Gly1383=)
n.5042A>C
n.2433A>C
n.6295A>C
c.4053A>C (p.Gly1351=)
c.*4199A>C (n.*4199A>C)
c.*4122A>C (n.*4122A>C)
c.*4427A>C (n.*4427A>C)
c.*4158A>C (n.*4158A>C)
c.3759A>C (p.Gly1253=)
c.2722+659A>C
c.4110A>C (p.Gly1370=)
c.3089A>C
n.3394A>C
n.4217A>C
c.4227A>C (p.Gly1409=)
c.4206A>C (p.Gly1402=)
c.4188A>C (p.Gly1396=)
c.4170A>C (p.Gly1390=)
c.4131A>C (p.Gly1377=)
c.4092A>C (p.Gly1364=)
c.3816A>C (p.Gly1272=)
c.3777A>C (p.Gly1259=)
c.4167A>C (p.Gly1389=)
c.4074A>C (p.Gly1358=)
c.3549A>C (p.Gly1183=)
c.3864A>C (p.Gly1288=)
n.8436A>C
3g.9475815A>GCA432528598SETD5n.3008A>G
c.4149A>G (p.Gly1383=)
n.5042A>G
n.2433A>G
n.6295A>G
c.4053A>G (p.Gly1351=)
c.*4199A>G (n.*4199A>G)
c.*4122A>G (n.*4122A>G)
c.*4427A>G (n.*4427A>G)
c.*4158A>G (n.*4158A>G)
c.3759A>G (p.Gly1253=)
c.2722+659A>G
c.4110A>G (p.Gly1370=)
c.3089A>G
n.3394A>G
n.4217A>G
c.4227A>G (p.Gly1409=)
c.4206A>G (p.Gly1402=)
c.4188A>G (p.Gly1396=)
c.4170A>G (p.Gly1390=)
c.4131A>G (p.Gly1377=)
c.4092A>G (p.Gly1364=)
c.3816A>G (p.Gly1272=)
c.3777A>G (p.Gly1259=)
c.4167A>G (p.Gly1389=)
c.4074A>G (p.Gly1358=)
c.3549A>G (p.Gly1183=)
c.3864A>G (p.Gly1288=)
n.8436A>G
3g.9475815A>TCA432528597SETD5n.3008A>T
c.4149A>T (p.Gly1383=)
n.5042A>T
n.2433A>T
n.6295A>T
c.4053A>T (p.Gly1351=)
c.*4199A>T (n.*4199A>T)
c.*4122A>T (n.*4122A>T)
c.*4427A>T (n.*4427A>T)
c.*4158A>T (n.*4158A>T)
c.3759A>T (p.Gly1253=)
c.2722+659A>T
c.4110A>T (p.Gly1370=)
c.3089A>T
n.3394A>T
n.4217A>T
c.4227A>T (p.Gly1409=)
c.4206A>T (p.Gly1402=)
c.4188A>T (p.Gly1396=)
c.4170A>T (p.Gly1390=)
c.4131A>T (p.Gly1377=)
c.4092A>T (p.Gly1364=)
c.3816A>T (p.Gly1272=)
c.3777A>T (p.Gly1259=)
c.4167A>T (p.Gly1389=)
c.4074A>T (p.Gly1358=)
c.3549A>T (p.Gly1183=)
c.3864A>T (p.Gly1288=)
n.8436A>T
3g.9475816C>ACA2239853SETD5n.3009C>A
c.4150C>A (p.Pro1384Thr)
n.5043C>A
n.2434C>A
n.6296C>A
c.4054C>A (p.Pro1352Thr)
c.*4200C>A (n.*4200C>A)
c.*4123C>A (n.*4123C>A)
c.*4428C>A (n.*4428C>A)
c.*4159C>A (n.*4159C>A)
c.3760C>A (p.Pro1254Thr)
c.2722+660C>A
c.4111C>A (p.Pro1371Thr)
c.3090C>A
n.3395C>A
n.4218C>A
c.4228C>A (p.Pro1410Thr)
c.4207C>A (p.Pro1403Thr)
c.4189C>A (p.Pro1397Thr)
c.4171C>A (p.Pro1391Thr)
c.4132C>A (p.Pro1378Thr)
c.4093C>A (p.Pro1365Thr)
c.3817C>A (p.Pro1273Thr)
c.3778C>A (p.Pro1260Thr)
c.4168C>A (p.Pro1390Thr)
c.4075C>A (p.Pro1359Thr)
c.3550C>A (p.Pro1184Thr)
c.3865C>A (p.Pro1289Thr)
n.8437C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.9475816C=CA1344742810SETD5n.3009C=
c.4150C= (p.Pro1384=)
n.5043C=
n.2434C=
n.6296C=
c.4054C= (p.Pro1352=)
c.*4200C= (n.*4200C=)
c.*4123C= (n.*4123C=)
c.*4428C= (n.*4428C=)
c.*4159C= (n.*4159C=)
c.3760C= (p.Pro1254=)
c.2722+660C=
c.4111C= (p.Pro1371=)
c.3090C=
n.3395C=
n.4218C=
c.4228C= (p.Pro1410=)
c.4207C= (p.Pro1403=)
c.4189C= (p.Pro1397=)
c.4171C= (p.Pro1391=)
c.4132C= (p.Pro1378=)
c.4093C= (p.Pro1365=)
c.3817C= (p.Pro1273=)
c.3778C= (p.Pro1260=)
c.4168C= (p.Pro1390=)
c.4075C= (p.Pro1359=)
c.3550C= (p.Pro1184=)
c.3865C= (p.Pro1289=)
n.8437C=
3g.9475816C>GCA351693965SETD5n.3009C>G
c.4150C>G (p.Pro1384Ala)
n.5043C>G
n.2434C>G
n.6296C>G
c.4054C>G (p.Pro1352Ala)
c.*4200C>G (n.*4200C>G)
c.*4123C>G (n.*4123C>G)
c.*4428C>G (n.*4428C>G)
c.*4159C>G (n.*4159C>G)
c.3760C>G (p.Pro1254Ala)
c.2722+660C>G
c.4111C>G (p.Pro1371Ala)
c.3090C>G
n.3395C>G
n.4218C>G
c.4228C>G (p.Pro1410Ala)
c.4207C>G (p.Pro1403Ala)
c.4189C>G (p.Pro1397Ala)
c.4171C>G (p.Pro1391Ala)
c.4132C>G (p.Pro1378Ala)
c.4093C>G (p.Pro1365Ala)
c.3817C>G (p.Pro1273Ala)
c.3778C>G (p.Pro1260Ala)
c.4168C>G (p.Pro1390Ala)
c.4075C>G (p.Pro1359Ala)
c.3550C>G (p.Pro1184Ala)
c.3865C>G (p.Pro1289Ala)
n.8437C>G
 gnomAD v4
3g.9475816C>TCA351693966SETD5n.3009C>T
c.4150C>T (p.Pro1384Ser)
n.5043C>T
n.2434C>T
n.6296C>T
c.4054C>T (p.Pro1352Ser)
c.*4200C>T (n.*4200C>T)
c.*4123C>T (n.*4123C>T)
c.*4428C>T (n.*4428C>T)
c.*4159C>T (n.*4159C>T)
c.3760C>T (p.Pro1254Ser)
c.2722+660C>T
c.4111C>T (p.Pro1371Ser)
c.3090C>T
n.3395C>T
n.4218C>T
c.4228C>T (p.Pro1410Ser)
c.4207C>T (p.Pro1403Ser)
c.4189C>T (p.Pro1397Ser)
c.4171C>T (p.Pro1391Ser)
c.4132C>T (p.Pro1378Ser)
c.4093C>T (p.Pro1365Ser)
c.3817C>T (p.Pro1273Ser)
c.3778C>T (p.Pro1260Ser)
c.4168C>T (p.Pro1390Ser)
c.4075C>T (p.Pro1359Ser)
c.3550C>T (p.Pro1184Ser)
c.3865C>T (p.Pro1289Ser)
n.8437C>T
3g.9475817C>ACA2239855SETD5n.3010C>A
c.4151C>A (p.Pro1384His)
n.5044C>A
n.2435C>A
n.6297C>A
c.4055C>A (p.Pro1352His)
c.*4201C>A (n.*4201C>A)
c.*4124C>A (n.*4124C>A)
c.*4429C>A (n.*4429C>A)
c.*4160C>A (n.*4160C>A)
c.3761C>A (p.Pro1254His)
c.2722+661C>A
c.4112C>A (p.Pro1371His)
c.3091C>A
n.3396C>A
n.4219C>A
c.4229C>A (p.Pro1410His)
c.4208C>A (p.Pro1403His)
c.4190C>A (p.Pro1397His)
c.4172C>A (p.Pro1391His)
c.4133C>A (p.Pro1378His)
c.4094C>A (p.Pro1365His)
c.3818C>A (p.Pro1273His)
c.3779C>A (p.Pro1260His)
c.4169C>A (p.Pro1390His)
c.4076C>A (p.Pro1359His)
c.3551C>A (p.Pro1184His)
c.3866C>A (p.Pro1289His)
n.8438C>A
 dbSNP ExAC
3g.9475817C=CA1344742811SETD5n.3010C=
c.4151C= (p.Pro1384=)
n.5044C=
n.2435C=
n.6297C=
c.4055C= (p.Pro1352=)
c.*4201C= (n.*4201C=)
c.*4124C= (n.*4124C=)
c.*4429C= (n.*4429C=)
c.*4160C= (n.*4160C=)
c.3761C= (p.Pro1254=)
c.2722+661C=
c.4112C= (p.Pro1371=)
c.3091C=
n.3396C=
n.4219C=
c.4229C= (p.Pro1410=)
c.4208C= (p.Pro1403=)
c.4190C= (p.Pro1397=)
c.4172C= (p.Pro1391=)
c.4133C= (p.Pro1378=)
c.4094C= (p.Pro1365=)
c.3818C= (p.Pro1273=)
c.3779C= (p.Pro1260=)
c.4169C= (p.Pro1390=)
c.4076C= (p.Pro1359=)
c.3551C= (p.Pro1184=)
c.3866C= (p.Pro1289=)
n.8438C=
3g.9475817C>GCA351693974SETD5n.3010C>G
c.4151C>G (p.Pro1384Arg)
n.5044C>G
n.2435C>G
n.6297C>G
c.4055C>G (p.Pro1352Arg)
c.*4201C>G (n.*4201C>G)
c.*4124C>G (n.*4124C>G)
c.*4429C>G (n.*4429C>G)
c.*4160C>G (n.*4160C>G)
c.3761C>G (p.Pro1254Arg)
c.2722+661C>G
c.4112C>G (p.Pro1371Arg)
c.3091C>G
n.3396C>G
n.4219C>G
c.4229C>G (p.Pro1410Arg)
c.4208C>G (p.Pro1403Arg)
c.4190C>G (p.Pro1397Arg)
c.4172C>G (p.Pro1391Arg)
c.4133C>G (p.Pro1378Arg)
c.4094C>G (p.Pro1365Arg)
c.3818C>G (p.Pro1273Arg)
c.3779C>G (p.Pro1260Arg)
c.4169C>G (p.Pro1390Arg)
c.4076C>G (p.Pro1359Arg)
c.3551C>G (p.Pro1184Arg)
c.3866C>G (p.Pro1289Arg)
n.8438C>G
 ClinVar dbSNP
3g.9475817C>TCA2239854SETD5n.3010C>T
c.4151C>T (p.Pro1384Leu)
n.5044C>T
n.2435C>T
n.6297C>T
c.4055C>T (p.Pro1352Leu)
c.*4201C>T (n.*4201C>T)
c.*4124C>T (n.*4124C>T)
c.*4429C>T (n.*4429C>T)
c.*4160C>T (n.*4160C>T)
c.3761C>T (p.Pro1254Leu)
c.2722+661C>T
c.4112C>T (p.Pro1371Leu)
c.3091C>T
n.3396C>T
n.4219C>T
c.4229C>T (p.Pro1410Leu)
c.4208C>T (p.Pro1403Leu)
c.4190C>T (p.Pro1397Leu)
c.4172C>T (p.Pro1391Leu)
c.4133C>T (p.Pro1378Leu)
c.4094C>T (p.Pro1365Leu)
c.3818C>T (p.Pro1273Leu)
c.3779C>T (p.Pro1260Leu)
c.4169C>T (p.Pro1390Leu)
c.4076C>T (p.Pro1359Leu)
c.3551C>T (p.Pro1184Leu)
c.3866C>T (p.Pro1289Leu)
n.8438C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.9475818C>ACA432528606SETD5n.3011C>A
c.4152C>A (p.Pro1384=)
n.5045C>A
n.2436C>A
n.6298C>A
c.4056C>A (p.Pro1352=)
c.*4202C>A (n.*4202C>A)
c.*4125C>A (n.*4125C>A)
c.*4430C>A (n.*4430C>A)
c.*4161C>A (n.*4161C>A)
c.3762C>A (p.Pro1254=)
c.2722+662C>A
c.4113C>A (p.Pro1371=)
c.3092C>A
n.3397C>A
n.4220C>A
c.4230C>A (p.Pro1410=)
c.4209C>A (p.Pro1403=)
c.4191C>A (p.Pro1397=)
c.4173C>A (p.Pro1391=)
c.4134C>A (p.Pro1378=)
c.4095C>A (p.Pro1365=)
c.3819C>A (p.Pro1273=)
c.3780C>A (p.Pro1260=)
c.4170C>A (p.Pro1390=)
c.4077C>A (p.Pro1359=)
c.3552C>A (p.Pro1184=)
c.3867C>A (p.Pro1289=)
n.8439C>A
3g.9475818C=CA1344742812SETD5n.3011C=
c.4152C= (p.Pro1384=)
n.5045C=
n.2436C=
n.6298C=
c.4056C= (p.Pro1352=)
c.*4202C= (n.*4202C=)
c.*4125C= (n.*4125C=)
c.*4430C= (n.*4430C=)
c.*4161C= (n.*4161C=)
c.3762C= (p.Pro1254=)
c.2722+662C=
c.4113C= (p.Pro1371=)
c.3092C=
n.3397C=
n.4220C=
c.4230C= (p.Pro1410=)
c.4209C= (p.Pro1403=)
c.4191C= (p.Pro1397=)
c.4173C= (p.Pro1391=)
c.4134C= (p.Pro1378=)
c.4095C= (p.Pro1365=)
c.3819C= (p.Pro1273=)
c.3780C= (p.Pro1260=)
c.4170C= (p.Pro1390=)
c.4077C= (p.Pro1359=)
c.3552C= (p.Pro1184=)
c.3867C= (p.Pro1289=)
n.8439C=
3g.9475818C>GCA432528610SETD5n.3011C>G
c.4152C>G (p.Pro1384=)
n.5045C>G
n.2436C>G
n.6298C>G
c.4056C>G (p.Pro1352=)
c.*4202C>G (n.*4202C>G)
c.*4125C>G (n.*4125C>G)
c.*4430C>G (n.*4430C>G)
c.*4161C>G (n.*4161C>G)
c.3762C>G (p.Pro1254=)
c.2722+662C>G
c.4113C>G (p.Pro1371=)
c.3092C>G
n.3397C>G
n.4220C>G
c.4230C>G (p.Pro1410=)
c.4209C>G (p.Pro1403=)
c.4191C>G (p.Pro1397=)
c.4173C>G (p.Pro1391=)
c.4134C>G (p.Pro1378=)
c.4095C>G (p.Pro1365=)
c.3819C>G (p.Pro1273=)
c.3780C>G (p.Pro1260=)
c.4170C>G (p.Pro1390=)
c.4077C>G (p.Pro1359=)
c.3552C>G (p.Pro1184=)
c.3867C>G (p.Pro1289=)
n.8439C>G
 dbSNP
3g.9475818C>TCA432528608SETD5n.3011C>T
c.4152C>T (p.Pro1384=)
n.5045C>T
n.2436C>T
n.6298C>T
c.4056C>T (p.Pro1352=)
c.*4202C>T (n.*4202C>T)
c.*4125C>T (n.*4125C>T)
c.*4430C>T (n.*4430C>T)
c.*4161C>T (n.*4161C>T)
c.3762C>T (p.Pro1254=)
c.2722+662C>T
c.4113C>T (p.Pro1371=)
c.3092C>T
n.3397C>T
n.4220C>T
c.4230C>T (p.Pro1410=)
c.4209C>T (p.Pro1403=)
c.4191C>T (p.Pro1397=)
c.4173C>T (p.Pro1391=)
c.4134C>T (p.Pro1378=)
c.4095C>T (p.Pro1365=)
c.3819C>T (p.Pro1273=)
c.3780C>T (p.Pro1260=)
c.4170C>T (p.Pro1390=)
c.4077C>T (p.Pro1359=)
c.3552C>T (p.Pro1184=)
c.3867C>T (p.Pro1289=)
n.8439C>T
3g.9475819T>ACA351693980SETD5n.3012T>A
c.4153T>A (p.Ser1385Thr)
n.5046T>A
n.2437T>A
n.6299T>A
c.4057T>A (p.Ser1353Thr)
c.*4203T>A (n.*4203T>A)
c.*4126T>A (n.*4126T>A)
c.*4431T>A (n.*4431T>A)
c.*4162T>A (n.*4162T>A)
c.3763T>A (p.Ser1255Thr)
c.2722+663T>A
c.4114T>A (p.Ser1372Thr)
c.3093T>A
n.3398T>A
n.4221T>A
c.4231T>A (p.Ser1411Thr)
c.4210T>A (p.Ser1404Thr)
c.4192T>A (p.Ser1398Thr)
c.4174T>A (p.Ser1392Thr)
c.4135T>A (p.Ser1379Thr)
c.4096T>A (p.Ser1366Thr)
c.3820T>A (p.Ser1274Thr)
c.3781T>A (p.Ser1261Thr)
c.4171T>A (p.Ser1391Thr)
c.4078T>A (p.Ser1360Thr)
c.3553T>A (p.Ser1185Thr)
c.3868T>A (p.Ser1290Thr)
n.8440T>A
3g.9475819T>CCA351693982SETD5n.3012T>C
c.4153T>C (p.Ser1385Pro)
n.5046T>C
n.2437T>C
n.6299T>C
c.4057T>C (p.Ser1353Pro)
c.*4203T>C (n.*4203T>C)
c.*4126T>C (n.*4126T>C)
c.*4431T>C (n.*4431T>C)
c.*4162T>C (n.*4162T>C)
c.3763T>C (p.Ser1255Pro)
c.2722+663T>C
c.4114T>C (p.Ser1372Pro)
c.3093T>C
n.3398T>C
n.4221T>C
c.4231T>C (p.Ser1411Pro)
c.4210T>C (p.Ser1404Pro)
c.4192T>C (p.Ser1398Pro)
c.4174T>C (p.Ser1392Pro)
c.4135T>C (p.Ser1379Pro)
c.4096T>C (p.Ser1366Pro)
c.3820T>C (p.Ser1274Pro)
c.3781T>C (p.Ser1261Pro)
c.4171T>C (p.Ser1391Pro)
c.4078T>C (p.Ser1360Pro)
c.3553T>C (p.Ser1185Pro)
c.3868T>C (p.Ser1290Pro)
n.8440T>C
3g.9475819T>GCA351693986SETD5n.3012T>G
c.4153T>G (p.Ser1385Ala)
n.5046T>G
n.2437T>G
n.6299T>G
c.4057T>G (p.Ser1353Ala)
c.*4203T>G (n.*4203T>G)
c.*4126T>G (n.*4126T>G)
c.*4431T>G (n.*4431T>G)
c.*4162T>G (n.*4162T>G)
c.3763T>G (p.Ser1255Ala)
c.2722+663T>G
c.4114T>G (p.Ser1372Ala)
c.3093T>G
n.3398T>G
n.4221T>G
c.4231T>G (p.Ser1411Ala)
c.4210T>G (p.Ser1404Ala)
c.4192T>G (p.Ser1398Ala)
c.4174T>G (p.Ser1392Ala)
c.4135T>G (p.Ser1379Ala)
c.4096T>G (p.Ser1366Ala)
c.3820T>G (p.Ser1274Ala)
c.3781T>G (p.Ser1261Ala)
c.4171T>G (p.Ser1391Ala)
c.4078T>G (p.Ser1360Ala)
c.3553T>G (p.Ser1185Ala)
c.3868T>G (p.Ser1290Ala)
n.8440T>G
3g.9475820C>ACA351693992SETD5n.3013C>A
c.4154C>A (p.Ser1385Ter)
n.5047C>A
n.2438C>A
n.6300C>A
c.4058C>A (p.Ser1353Ter)
c.*4204C>A (n.*4204C>A)
c.*4127C>A (n.*4127C>A)
c.*4432C>A (n.*4432C>A)
c.*4163C>A (n.*4163C>A)
c.3764C>A (p.Ser1255Ter)
c.2722+664C>A
c.4115C>A (p.Ser1372Ter)
c.3094C>A
n.3399C>A
n.4222C>A
c.4232C>A (p.Ser1411Ter)
c.4211C>A (p.Ser1404Ter)
c.4193C>A (p.Ser1398Ter)
c.4175C>A (p.Ser1392Ter)
c.4136C>A (p.Ser1379Ter)
c.4097C>A (p.Ser1366Ter)
c.3821C>A (p.Ser1274Ter)
c.3782C>A (p.Ser1261Ter)
c.4172C>A (p.Ser1391Ter)
c.4079C>A (p.Ser1360Ter)
c.3554C>A (p.Ser1185Ter)
c.3869C>A (p.Ser1290Ter)
n.8441C>A
3g.9475820C>GCA351693995SETD5n.3013C>G
c.4154C>G (p.Ser1385Ter)
n.5047C>G
n.2438C>G
n.6300C>G
c.4058C>G (p.Ser1353Ter)
c.*4204C>G (n.*4204C>G)
c.*4127C>G (n.*4127C>G)
c.*4432C>G (n.*4432C>G)
c.*4163C>G (n.*4163C>G)
c.3764C>G (p.Ser1255Ter)
c.2722+664C>G
c.4115C>G (p.Ser1372Ter)
c.3094C>G
n.3399C>G
n.4222C>G
c.4232C>G (p.Ser1411Ter)
c.4211C>G (p.Ser1404Ter)
c.4193C>G (p.Ser1398Ter)
c.4175C>G (p.Ser1392Ter)
c.4136C>G (p.Ser1379Ter)
c.4097C>G (p.Ser1366Ter)
c.3821C>G (p.Ser1274Ter)
c.3782C>G (p.Ser1261Ter)
c.4172C>G (p.Ser1391Ter)
c.4079C>G (p.Ser1360Ter)
c.3554C>G (p.Ser1185Ter)
c.3869C>G (p.Ser1290Ter)
n.8441C>G
3g.9475820C>TCA351693990SETD5n.3013C>T
c.4154C>T (p.Ser1385Leu)
n.5047C>T
n.2438C>T
n.6300C>T
c.4058C>T (p.Ser1353Leu)
c.*4204C>T (n.*4204C>T)
c.*4127C>T (n.*4127C>T)
c.*4432C>T (n.*4432C>T)
c.*4163C>T (n.*4163C>T)
c.3764C>T (p.Ser1255Leu)
c.2722+664C>T
c.4115C>T (p.Ser1372Leu)
c.3094C>T
n.3399C>T
n.4222C>T
c.4232C>T (p.Ser1411Leu)
c.4211C>T (p.Ser1404Leu)
c.4193C>T (p.Ser1398Leu)
c.4175C>T (p.Ser1392Leu)
c.4136C>T (p.Ser1379Leu)
c.4097C>T (p.Ser1366Leu)
c.3821C>T (p.Ser1274Leu)
c.3782C>T (p.Ser1261Leu)
c.4172C>T (p.Ser1391Leu)
c.4079C>T (p.Ser1360Leu)
c.3554C>T (p.Ser1185Leu)
c.3869C>T (p.Ser1290Leu)
n.8441C>T

Number of alleles fetched