Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.9832290G>ACA115865SBF2c.2290C>T (p.Arg764Ter)
c.3586C>T (p.Arg1196Ter)
c.3472C>T (p.Arg1158Ter)
c.3193C>T (p.Arg1065Ter)
c.3448C>T (p.Arg1150Ter)
n.757C>T
c.2480C>T (n.2480C>T)
c.3580C>T (p.Arg1194Ter)
c.2385C>T (n.2385C>T)
c.3457C>T (p.Arg1153Ter)
c.2415C>T (n.2415C>T)
c.237C>T
c.3445C>T (p.Arg1149Ter)
n.3724C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.9832290G>CCA379645587SBF2c.2290C>G (p.Arg764Gly)
c.3586C>G (p.Arg1196Gly)
c.3472C>G (p.Arg1158Gly)
c.3193C>G (p.Arg1065Gly)
c.3448C>G (p.Arg1150Gly)
n.757C>G
c.2480C>G (n.2480C>G)
c.3580C>G (p.Arg1194Gly)
c.2385C>G (n.2385C>G)
c.3457C>G (p.Arg1153Gly)
c.2415C>G (n.2415C>G)
c.237C>G
c.3445C>G (p.Arg1149Gly)
n.3724C>G
11g.9832290G=CA1951790249SBF2c.2290C= (p.Arg764=)
c.3586C= (p.Arg1196=)
c.3472C= (p.Arg1158=)
c.3193C= (p.Arg1065=)
c.3448C= (p.Arg1150=)
n.757C=
c.2480C= (n.2480C=)
c.3580C= (p.Arg1194=)
c.2385C= (n.2385C=)
c.3457C= (p.Arg1153=)
c.2415C= (n.2415C=)
c.237C=
c.3445C= (p.Arg1149=)
n.3724C=
11g.9832290G>TCA473070628SBF2c.2290C>A (p.Arg764=)
c.3586C>A (p.Arg1196=)
c.3472C>A (p.Arg1158=)
c.3193C>A (p.Arg1065=)
c.3448C>A (p.Arg1150=)
n.757C>A
c.2480C>A (n.2480C>A)
c.3580C>A (p.Arg1194=)
c.2385C>A (n.2385C>A)
c.3457C>A (p.Arg1153=)
c.2415C>A (n.2415C>A)
c.237C>A
c.3445C>A (p.Arg1149=)
n.3724C>A
11g.9832291G>ACA473070629SBF2c.2289C>T (p.Leu763=)
c.3585C>T (p.Leu1195=)
c.3471C>T (p.Leu1157=)
c.3192C>T (p.Leu1064=)
c.3447C>T (p.Leu1149=)
n.756C>T
c.2479C>T (n.2479C>T)
c.3579C>T (p.Leu1193=)
c.2384C>T (n.2384C>T)
c.3456C>T (p.Leu1152=)
c.2414C>T (n.2414C>T)
c.236C>T
c.3444C>T (p.Leu1148=)
n.3723C>T
11g.9832291G>CCA473070632SBF2c.2289C>G (p.Leu763=)
c.3585C>G (p.Leu1195=)
c.3471C>G (p.Leu1157=)
c.3192C>G (p.Leu1064=)
c.3447C>G (p.Leu1149=)
n.756C>G
c.2479C>G (n.2479C>G)
c.3579C>G (p.Leu1193=)
c.2384C>G (n.2384C>G)
c.3456C>G (p.Leu1152=)
c.2414C>G (n.2414C>G)
c.236C>G
c.3444C>G (p.Leu1148=)
n.3723C>G
 dbSNP gnomAD v4
11g.9832291G=CA1951790254SBF2c.2289C= (p.Leu763=)
c.3585C= (p.Leu1195=)
c.3471C= (p.Leu1157=)
c.3192C= (p.Leu1064=)
c.3447C= (p.Leu1149=)
n.756C=
c.2479C= (n.2479C=)
c.3579C= (p.Leu1193=)
c.2384C= (n.2384C=)
c.3456C= (p.Leu1152=)
c.2414C= (n.2414C=)
c.236C=
c.3444C= (p.Leu1148=)
n.3723C=
11g.9832291G>TCA473070631SBF2c.2289C>A (p.Leu763=)
c.3585C>A (p.Leu1195=)
c.3471C>A (p.Leu1157=)
c.3192C>A (p.Leu1064=)
c.3447C>A (p.Leu1149=)
n.756C>A
c.2479C>A (n.2479C>A)
c.3579C>A (p.Leu1193=)
c.2384C>A (n.2384C>A)
c.3456C>A (p.Leu1152=)
c.2414C>A (n.2414C>A)
c.236C>A
c.3444C>A (p.Leu1148=)
n.3723C>A
11g.9832292A>CCA379645588SBF2c.2288T>G (p.Leu763Arg)
c.3584T>G (p.Leu1195Arg)
c.3470T>G (p.Leu1157Arg)
c.3191T>G (p.Leu1064Arg)
c.3446T>G (p.Leu1149Arg)
n.755T>G
c.2478T>G (n.2478T>G)
c.3578T>G (p.Leu1193Arg)
c.2383T>G (n.2383T>G)
c.3455T>G (p.Leu1152Arg)
c.2413T>G (n.2413T>G)
c.235T>G
c.3443T>G (p.Leu1148Arg)
n.3722T>G
11g.9832292A>GCA379645590SBF2c.2288T>C (p.Leu763Pro)
c.3584T>C (p.Leu1195Pro)
c.3470T>C (p.Leu1157Pro)
c.3191T>C (p.Leu1064Pro)
c.3446T>C (p.Leu1149Pro)
n.755T>C
c.2478T>C (n.2478T>C)
c.3578T>C (p.Leu1193Pro)
c.2383T>C (n.2383T>C)
c.3455T>C (p.Leu1152Pro)
c.2413T>C (n.2413T>C)
c.235T>C
c.3443T>C (p.Leu1148Pro)
n.3722T>C
11g.9832292A>TCA379645589SBF2c.2288T>A (p.Leu763His)
c.3584T>A (p.Leu1195His)
c.3470T>A (p.Leu1157His)
c.3191T>A (p.Leu1064His)
c.3446T>A (p.Leu1149His)
n.755T>A
c.2478T>A (n.2478T>A)
c.3578T>A (p.Leu1193His)
c.2383T>A (n.2383T>A)
c.3455T>A (p.Leu1152His)
c.2413T>A (n.2413T>A)
c.235T>A
c.3443T>A (p.Leu1148His)
n.3722T>A
11g.9832293G>ACA379645591SBF2c.2287C>T (p.Leu763Phe)
c.3583C>T (p.Leu1195Phe)
c.3469C>T (p.Leu1157Phe)
c.3190C>T (p.Leu1064Phe)
c.3445C>T (p.Leu1149Phe)
n.754C>T
c.2477C>T (n.2477C>T)
c.3577C>T (p.Leu1193Phe)
c.2382C>T (n.2382C>T)
c.3454C>T (p.Leu1152Phe)
c.2412C>T (n.2412C>T)
c.234C>T
c.3442C>T (p.Leu1148Phe)
n.3721C>T
11g.9832293G>CCA379645593SBF2c.2287C>G (p.Leu763Val)
c.3583C>G (p.Leu1195Val)
c.3469C>G (p.Leu1157Val)
c.3190C>G (p.Leu1064Val)
c.3445C>G (p.Leu1149Val)
n.754C>G
c.2477C>G (n.2477C>G)
c.3577C>G (p.Leu1193Val)
c.2382C>G (n.2382C>G)
c.3454C>G (p.Leu1152Val)
c.2412C>G (n.2412C>G)
c.234C>G
c.3442C>G (p.Leu1148Val)
n.3721C>G
11g.9832293G>TCA379645592SBF2c.2287C>A (p.Leu763Ile)
c.3583C>A (p.Leu1195Ile)
c.3469C>A (p.Leu1157Ile)
c.3190C>A (p.Leu1064Ile)
c.3445C>A (p.Leu1149Ile)
n.754C>A
c.2477C>A (n.2477C>A)
c.3577C>A (p.Leu1193Ile)
c.2382C>A (n.2382C>A)
c.3454C>A (p.Leu1152Ile)
c.2412C>A (n.2412C>A)
c.234C>A
c.3442C>A (p.Leu1148Ile)
n.3721C>A
11g.9832294G>ACA5881227SBF2c.2286C>T (p.Leu762=)
c.3582C>T (p.Leu1194=)
c.3468C>T (p.Leu1156=)
c.3189C>T (p.Leu1063=)
c.3444C>T (p.Leu1148=)
n.753C>T
c.2476C>T (n.2476C>T)
c.3576C>T (p.Leu1192=)
c.2381C>T (n.2381C>T)
c.3453C>T (p.Leu1151=)
c.2411C>T (n.2411C>T)
c.233C>T
c.3441C>T (p.Leu1147=)
n.3720C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832294G>CCA473070637SBF2c.2286C>G (p.Leu762=)
c.3582C>G (p.Leu1194=)
c.3468C>G (p.Leu1156=)
c.3189C>G (p.Leu1063=)
c.3444C>G (p.Leu1148=)
n.753C>G
c.2476C>G (n.2476C>G)
c.3576C>G (p.Leu1192=)
c.2381C>G (n.2381C>G)
c.3453C>G (p.Leu1151=)
c.2411C>G (n.2411C>G)
c.233C>G
c.3441C>G (p.Leu1147=)
n.3720C>G
11g.9832294G=CA1951790259SBF2c.2286C= (p.Leu762=)
c.3582C= (p.Leu1194=)
c.3468C= (p.Leu1156=)
c.3189C= (p.Leu1063=)
c.3444C= (p.Leu1148=)
n.753C=
c.2476C= (n.2476C=)
c.3576C= (p.Leu1192=)
c.2381C= (n.2381C=)
c.3453C= (p.Leu1151=)
c.2411C= (n.2411C=)
c.233C=
c.3441C= (p.Leu1147=)
n.3720C=
11g.9832294G>TCA473070638SBF2c.2286C>A (p.Leu762=)
c.3582C>A (p.Leu1194=)
c.3468C>A (p.Leu1156=)
c.3189C>A (p.Leu1063=)
c.3444C>A (p.Leu1148=)
n.753C>A
c.2476C>A (n.2476C>A)
c.3576C>A (p.Leu1192=)
c.2381C>A (n.2381C>A)
c.3453C>A (p.Leu1151=)
c.2411C>A (n.2411C>A)
c.233C>A
c.3441C>A (p.Leu1147=)
n.3720C>A
11g.9832295A>CCA379645594SBF2c.2285T>G (p.Leu762Arg)
c.3581T>G (p.Leu1194Arg)
c.3467T>G (p.Leu1156Arg)
c.3188T>G (p.Leu1063Arg)
c.3443T>G (p.Leu1148Arg)
n.752T>G
c.2475T>G (n.2475T>G)
c.3575T>G (p.Leu1192Arg)
c.2380T>G (n.2380T>G)
c.3452T>G (p.Leu1151Arg)
c.2410T>G (n.2410T>G)
c.232T>G
c.3440T>G (p.Leu1147Arg)
n.3719T>G
11g.9832295A>GCA379645595SBF2c.2285T>C (p.Leu762Pro)
c.3581T>C (p.Leu1194Pro)
c.3467T>C (p.Leu1156Pro)
c.3188T>C (p.Leu1063Pro)
c.3443T>C (p.Leu1148Pro)
n.752T>C
c.2475T>C (n.2475T>C)
c.3575T>C (p.Leu1192Pro)
c.2380T>C (n.2380T>C)
c.3452T>C (p.Leu1151Pro)
c.2410T>C (n.2410T>C)
c.232T>C
c.3440T>C (p.Leu1147Pro)
n.3719T>C
11g.9832295A>TCA379645596SBF2c.2285T>A (p.Leu762His)
c.3581T>A (p.Leu1194His)
c.3467T>A (p.Leu1156His)
c.3188T>A (p.Leu1063His)
c.3443T>A (p.Leu1148His)
n.752T>A
c.2475T>A (n.2475T>A)
c.3575T>A (p.Leu1192His)
c.2380T>A (n.2380T>A)
c.3452T>A (p.Leu1151His)
c.2410T>A (n.2410T>A)
c.232T>A
c.3440T>A (p.Leu1147His)
n.3719T>A
11g.9832296G>ACA379645597SBF2c.2284C>T (p.Leu762Phe)
c.3580C>T (p.Leu1194Phe)
c.3466C>T (p.Leu1156Phe)
c.3187C>T (p.Leu1063Phe)
c.3442C>T (p.Leu1148Phe)
n.751C>T
c.2474C>T (n.2474C>T)
c.3574C>T (p.Leu1192Phe)
c.2379C>T (n.2379C>T)
c.3451C>T (p.Leu1151Phe)
c.2409C>T (n.2409C>T)
c.231C>T
c.3439C>T (p.Leu1147Phe)
n.3718C>T
11g.9832296G>CCA379645598SBF2c.2284C>G (p.Leu762Val)
c.3580C>G (p.Leu1194Val)
c.3466C>G (p.Leu1156Val)
c.3187C>G (p.Leu1063Val)
c.3442C>G (p.Leu1148Val)
n.751C>G
c.2474C>G (n.2474C>G)
c.3574C>G (p.Leu1192Val)
c.2379C>G (n.2379C>G)
c.3451C>G (p.Leu1151Val)
c.2409C>G (n.2409C>G)
c.231C>G
c.3439C>G (p.Leu1147Val)
n.3718C>G
11g.9832296G>TCA379645599SBF2c.2284C>A (p.Leu762Ile)
c.3580C>A (p.Leu1194Ile)
c.3466C>A (p.Leu1156Ile)
c.3187C>A (p.Leu1063Ile)
c.3442C>A (p.Leu1148Ile)
n.751C>A
c.2474C>A (n.2474C>A)
c.3574C>A (p.Leu1192Ile)
c.2379C>A (n.2379C>A)
c.3451C>A (p.Leu1151Ile)
c.2409C>A (n.2409C>A)
c.231C>A
c.3439C>A (p.Leu1147Ile)
n.3718C>A
11g.9832297C>ACA473070643SBF2c.2283G>T (p.Leu761=)
c.3579G>T (p.Leu1193=)
c.3465G>T (p.Leu1155=)
c.3186G>T (p.Leu1062=)
c.3441G>T (p.Leu1147=)
n.750G>T
c.2473G>T (n.2473G>T)
c.3573G>T (p.Leu1191=)
c.2378G>T (n.2378G>T)
c.3450G>T (p.Leu1150=)
c.2408G>T (n.2408G>T)
c.230G>T
c.3438G>T (p.Leu1146=)
n.3717G>T
11g.9832297C>GCA473070647SBF2c.2283G>C (p.Leu761=)
c.3579G>C (p.Leu1193=)
c.3465G>C (p.Leu1155=)
c.3186G>C (p.Leu1062=)
c.3441G>C (p.Leu1147=)
n.750G>C
c.2473G>C (n.2473G>C)
c.3573G>C (p.Leu1191=)
c.2378G>C (n.2378G>C)
c.3450G>C (p.Leu1150=)
c.2408G>C (n.2408G>C)
c.230G>C
c.3438G>C (p.Leu1146=)
n.3717G>C
 ClinVar dbSNP
11g.9832297C>TCA473070645SBF2c.2283G>A (p.Leu761=)
c.3579G>A (p.Leu1193=)
c.3465G>A (p.Leu1155=)
c.3186G>A (p.Leu1062=)
c.3441G>A (p.Leu1147=)
n.750G>A
c.2473G>A (n.2473G>A)
c.3573G>A (p.Leu1191=)
c.2378G>A (n.2378G>A)
c.3450G>A (p.Leu1150=)
c.2408G>A (n.2408G>A)
c.230G>A
c.3438G>A (p.Leu1146=)
n.3717G>A
11g.9832298A>CCA379645600SBF2c.2282T>G (p.Leu761Arg)
c.3578T>G (p.Leu1193Arg)
c.3464T>G (p.Leu1155Arg)
c.3185T>G (p.Leu1062Arg)
c.3440T>G (p.Leu1147Arg)
n.749T>G
c.2472T>G (n.2472T>G)
c.3572T>G (p.Leu1191Arg)
c.2377T>G (n.2377T>G)
c.3449T>G (p.Leu1150Arg)
c.2407T>G (n.2407T>G)
c.229T>G
c.3437T>G (p.Leu1146Arg)
n.3716T>G
11g.9832298A>GCA379645601SBF2c.2282T>C (p.Leu761Pro)
c.3578T>C (p.Leu1193Pro)
c.3464T>C (p.Leu1155Pro)
c.3185T>C (p.Leu1062Pro)
c.3440T>C (p.Leu1147Pro)
n.749T>C
c.2472T>C (n.2472T>C)
c.3572T>C (p.Leu1191Pro)
c.2377T>C (n.2377T>C)
c.3449T>C (p.Leu1150Pro)
c.2407T>C (n.2407T>C)
c.229T>C
c.3437T>C (p.Leu1146Pro)
n.3716T>C
11g.9832298A>TCA379645602SBF2c.2282T>A (p.Leu761Gln)
c.3578T>A (p.Leu1193Gln)
c.3464T>A (p.Leu1155Gln)
c.3185T>A (p.Leu1062Gln)
c.3440T>A (p.Leu1147Gln)
n.749T>A
c.2472T>A (n.2472T>A)
c.3572T>A (p.Leu1191Gln)
c.2377T>A (n.2377T>A)
c.3449T>A (p.Leu1150Gln)
c.2407T>A (n.2407T>A)
c.229T>A
c.3437T>A (p.Leu1146Gln)
n.3716T>A
11g.9832299G>ACA473070651SBF2c.2281C>T (p.Leu761=)
c.3577C>T (p.Leu1193=)
c.3463C>T (p.Leu1155=)
c.3184C>T (p.Leu1062=)
c.3439C>T (p.Leu1147=)
n.748C>T
c.2471C>T (n.2471C>T)
c.3571C>T (p.Leu1191=)
c.2376C>T (n.2376C>T)
c.3448C>T (p.Leu1150=)
c.2406C>T (n.2406C>T)
c.228C>T
c.3436C>T (p.Leu1146=)
n.3715C>T
11g.9832299G>CCA379645603SBF2c.2281C>G (p.Leu761Val)
c.3577C>G (p.Leu1193Val)
c.3463C>G (p.Leu1155Val)
c.3184C>G (p.Leu1062Val)
c.3439C>G (p.Leu1147Val)
n.748C>G
c.2471C>G (n.2471C>G)
c.3571C>G (p.Leu1191Val)
c.2376C>G (n.2376C>G)
c.3448C>G (p.Leu1150Val)
c.2406C>G (n.2406C>G)
c.228C>G
c.3436C>G (p.Leu1146Val)
n.3715C>G
11g.9832299G>TCA379645604SBF2c.2281C>A (p.Leu761Met)
c.3577C>A (p.Leu1193Met)
c.3463C>A (p.Leu1155Met)
c.3184C>A (p.Leu1062Met)
c.3439C>A (p.Leu1147Met)
n.748C>A
c.2471C>A (n.2471C>A)
c.3571C>A (p.Leu1191Met)
c.2376C>A (n.2376C>A)
c.3448C>A (p.Leu1150Met)
c.2406C>A (n.2406C>A)
c.228C>A
c.3436C>A (p.Leu1146Met)
n.3715C>A
11g.9832300A=CA1951790267SBF2c.2280T= (p.Thr760=)
c.3576T= (p.Thr1192=)
c.3462T= (p.Thr1154=)
c.3183T= (p.Thr1061=)
c.3438T= (p.Thr1146=)
n.747T=
c.2470T= (n.2470T=)
c.3570T= (p.Thr1190=)
c.2375T= (n.2375T=)
c.3447T= (p.Thr1149=)
c.2405T= (n.2405T=)
c.227T=
c.3435T= (p.Thr1145=)
n.3714T=
11g.9832300A>CCA5881229SBF2c.2280T>G (p.Thr760=)
c.3576T>G (p.Thr1192=)
c.3462T>G (p.Thr1154=)
c.3183T>G (p.Thr1061=)
c.3438T>G (p.Thr1146=)
n.747T>G
c.2470T>G (n.2470T>G)
c.3570T>G (p.Thr1190=)
c.2375T>G (n.2375T>G)
c.3447T>G (p.Thr1149=)
c.2405T>G (n.2405T>G)
c.227T>G
c.3435T>G (p.Thr1145=)
n.3714T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832300A>GCA5881228SBF2c.2280T>C (p.Thr760=)
c.3576T>C (p.Thr1192=)
c.3462T>C (p.Thr1154=)
c.3183T>C (p.Thr1061=)
c.3438T>C (p.Thr1146=)
n.747T>C
c.2470T>C (n.2470T>C)
c.3570T>C (p.Thr1190=)
c.2375T>C (n.2375T>C)
c.3447T>C (p.Thr1149=)
c.2405T>C (n.2405T>C)
c.227T>C
c.3435T>C (p.Thr1145=)
n.3714T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832300A>TCA473070655SBF2c.2280T>A (p.Thr760=)
c.3576T>A (p.Thr1192=)
c.3462T>A (p.Thr1154=)
c.3183T>A (p.Thr1061=)
c.3438T>A (p.Thr1146=)
n.747T>A
c.2470T>A (n.2470T>A)
c.3570T>A (p.Thr1190=)
c.2375T>A (n.2375T>A)
c.3447T>A (p.Thr1149=)
c.2405T>A (n.2405T>A)
c.227T>A
c.3435T>A (p.Thr1145=)
n.3714T>A
11g.9832301G>ACA5881231SBF2c.2279C>T (p.Thr760Ile)
c.3575C>T (p.Thr1192Ile)
c.3461C>T (p.Thr1154Ile)
c.3182C>T (p.Thr1061Ile)
c.3437C>T (p.Thr1146Ile)
n.746C>T
c.2469C>T (n.2469C>T)
c.3569C>T (p.Thr1190Ile)
c.2374C>T (n.2374C>T)
c.3446C>T (p.Thr1149Ile)
c.2404C>T (n.2404C>T)
c.226C>T
c.3434C>T (p.Thr1145Ile)
n.3713C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832301G>CCA5881230SBF2c.2279C>G (p.Thr760Ser)
c.3575C>G (p.Thr1192Ser)
c.3461C>G (p.Thr1154Ser)
c.3182C>G (p.Thr1061Ser)
c.3437C>G (p.Thr1146Ser)
n.746C>G
c.2469C>G (n.2469C>G)
c.3569C>G (p.Thr1190Ser)
c.2374C>G (n.2374C>G)
c.3446C>G (p.Thr1149Ser)
c.2404C>G (n.2404C>G)
c.226C>G
c.3434C>G (p.Thr1145Ser)
n.3713C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832301G=CA1951790271SBF2c.2279C= (p.Thr760=)
c.3575C= (p.Thr1192=)
c.3461C= (p.Thr1154=)
c.3182C= (p.Thr1061=)
c.3437C= (p.Thr1146=)
n.746C=
c.2469C= (n.2469C=)
c.3569C= (p.Thr1190=)
c.2374C= (n.2374C=)
c.3446C= (p.Thr1149=)
c.2404C= (n.2404C=)
c.226C=
c.3434C= (p.Thr1145=)
n.3713C=
11g.9832301G>TCA379645605SBF2c.2279C>A (p.Thr760Asn)
c.3575C>A (p.Thr1192Asn)
c.3461C>A (p.Thr1154Asn)
c.3182C>A (p.Thr1061Asn)
c.3437C>A (p.Thr1146Asn)
n.746C>A
c.2469C>A (n.2469C>A)
c.3569C>A (p.Thr1190Asn)
c.2374C>A (n.2374C>A)
c.3446C>A (p.Thr1149Asn)
c.2404C>A (n.2404C>A)
c.226C>A
c.3434C>A (p.Thr1145Asn)
n.3713C>A
11g.9832302T>ACA379645606SBF2c.2278A>T (p.Thr760Ser)
c.3574A>T (p.Thr1192Ser)
c.3460A>T (p.Thr1154Ser)
c.3181A>T (p.Thr1061Ser)
c.3436A>T (p.Thr1146Ser)
n.745A>T
c.2468A>T (n.2468A>T)
c.3568A>T (p.Thr1190Ser)
c.2373A>T (n.2373A>T)
c.3445A>T (p.Thr1149Ser)
c.2403A>T (n.2403A>T)
c.225A>T
c.3433A>T (p.Thr1145Ser)
n.3712A>T
 gnomAD v4
11g.9832302T>CCA5881232SBF2c.2278A>G (p.Thr760Ala)
c.3574A>G (p.Thr1192Ala)
c.3460A>G (p.Thr1154Ala)
c.3181A>G (p.Thr1061Ala)
c.3436A>G (p.Thr1146Ala)
n.745A>G
c.2468A>G (n.2468A>G)
c.3568A>G (p.Thr1190Ala)
c.2373A>G (n.2373A>G)
c.3445A>G (p.Thr1149Ala)
c.2403A>G (n.2403A>G)
c.225A>G
c.3433A>G (p.Thr1145Ala)
n.3712A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832302T>GCA379645607SBF2c.2278A>C (p.Thr760Pro)
c.3574A>C (p.Thr1192Pro)
c.3460A>C (p.Thr1154Pro)
c.3181A>C (p.Thr1061Pro)
c.3436A>C (p.Thr1146Pro)
n.745A>C
c.2468A>C (n.2468A>C)
c.3568A>C (p.Thr1190Pro)
c.2373A>C (n.2373A>C)
c.3445A>C (p.Thr1149Pro)
c.2403A>C (n.2403A>C)
c.225A>C
c.3433A>C (p.Thr1145Pro)
n.3712A>C
11g.9832302T=CA1951790275SBF2c.2278A= (p.Thr760=)
c.3574A= (p.Thr1192=)
c.3460A= (p.Thr1154=)
c.3181A= (p.Thr1061=)
c.3436A= (p.Thr1146=)
n.745A=
c.2468A= (n.2468A=)
c.3568A= (p.Thr1190=)
c.2373A= (n.2373A=)
c.3445A= (p.Thr1149=)
c.2403A= (n.2403A=)
c.225A=
c.3433A= (p.Thr1145=)
n.3712A=
11g.9832302_9832305delinsTACCCA1951790277SBF2c.2275_2278delinsGGTA (p.Gly759=)
c.3571_3574delinsGGTA (p.Gly1191=)
c.3457_3460delinsGGTA (p.Gly1153=)
c.3178_3181delinsGGTA (p.Gly1060=)
c.3433_3436delinsGGTA (p.Gly1145=)
n.742_745delinsGGTA
c.2465_2468delinsGGTA (n.2465_2468delinsGGTA)
c.3565_3568delinsGGTA (p.Gly1189=)
c.2370_2373delinsGGTA (n.2370_2373delinsGGTA)
c.3442_3445delinsGGTA (p.Gly1148=)
c.2400_2403delinsGGTA (n.2400_2403delinsGGTA)
c.222_225delinsGGTA
c.3430_3433delinsGGTA (p.Gly1144=)
n.3709_3712delinsGGTA
11g.9832303A>CCA473070664SBF2c.2277T>G (p.Gly759=)
c.3573T>G (p.Gly1191=)
c.3459T>G (p.Gly1153=)
c.3180T>G (p.Gly1060=)
c.3435T>G (p.Gly1145=)
n.744T>G
c.2467T>G (n.2467T>G)
c.3567T>G (p.Gly1189=)
c.2372T>G (n.2372T>G)
c.3444T>G (p.Gly1148=)
c.2402T>G (n.2402T>G)
c.224T>G
c.3432T>G (p.Gly1144=)
n.3711T>G
11g.9832303A>GCA473070665SBF2c.2277T>C (p.Gly759=)
c.3573T>C (p.Gly1191=)
c.3459T>C (p.Gly1153=)
c.3180T>C (p.Gly1060=)
c.3435T>C (p.Gly1145=)
n.744T>C
c.2467T>C (n.2467T>C)
c.3567T>C (p.Gly1189=)
c.2372T>C (n.2372T>C)
c.3444T>C (p.Gly1148=)
c.2402T>C (n.2402T>C)
c.224T>C
c.3432T>C (p.Gly1144=)
n.3711T>C
11g.9832303A>TCA473070668SBF2c.2277T>A (p.Gly759=)
c.3573T>A (p.Gly1191=)
c.3459T>A (p.Gly1153=)
c.3180T>A (p.Gly1060=)
c.3435T>A (p.Gly1145=)
n.744T>A
c.2467T>A (n.2467T>A)
c.3567T>A (p.Gly1189=)
c.2372T>A (n.2372T>A)
c.3444T>A (p.Gly1148=)
c.2402T>A (n.2402T>A)
c.224T>A
c.3432T>A (p.Gly1144=)
n.3711T>A
11g.9832305_9832307delCA918817308SBF2c.2275_2277del (p.Gly759del)
c.3571_3573del (p.Gly1191del)
c.3457_3459del (p.Gly1153del)
c.3178_3180del (p.Gly1060del)
c.3433_3435del (p.Gly1145del)
n.742_744del
c.2465_2467del (n.2465_2467del)
c.3565_3567del (p.Gly1189del)
c.2370_2372del (n.2370_2372del)
c.3442_3444del (p.Gly1148del)
c.2400_2402del (n.2400_2402del)
c.222_224del
c.3430_3432del (p.Gly1144del)
n.3709_3711del
 dbSNP gnomAD v4
11g.9832304C>ACA379645608SBF2c.2276G>T (p.Gly759Val)
c.3572G>T (p.Gly1191Val)
c.3458G>T (p.Gly1153Val)
c.3179G>T (p.Gly1060Val)
c.3434G>T (p.Gly1145Val)
n.743G>T
c.2466G>T (n.2466G>T)
c.3566G>T (p.Gly1189Val)
c.2371G>T (n.2371G>T)
c.3443G>T (p.Gly1148Val)
c.2401G>T (n.2401G>T)
c.223G>T
c.3431G>T (p.Gly1144Val)
n.3710G>T
11g.9832304C=CA1951790284SBF2c.2276G= (p.Gly759=)
c.3572G= (p.Gly1191=)
c.3458G= (p.Gly1153=)
c.3179G= (p.Gly1060=)
c.3434G= (p.Gly1145=)
n.743G=
c.2466G= (n.2466G=)
c.3566G= (p.Gly1189=)
c.2371G= (n.2371G=)
c.3443G= (p.Gly1148=)
c.2401G= (n.2401G=)
c.223G=
c.3431G= (p.Gly1144=)
n.3710G=
11g.9832304C>GCA379645609SBF2c.2276G>C (p.Gly759Ala)
c.3572G>C (p.Gly1191Ala)
c.3458G>C (p.Gly1153Ala)
c.3179G>C (p.Gly1060Ala)
c.3434G>C (p.Gly1145Ala)
n.743G>C
c.2466G>C (n.2466G>C)
c.3566G>C (p.Gly1189Ala)
c.2371G>C (n.2371G>C)
c.3443G>C (p.Gly1148Ala)
c.2401G>C (n.2401G>C)
c.223G>C
c.3431G>C (p.Gly1144Ala)
n.3710G>C
 dbSNP
11g.9832304C>TCA217634186SBF2c.2276G>A (p.Gly759Asp)
c.3572G>A (p.Gly1191Asp)
c.3458G>A (p.Gly1153Asp)
c.3179G>A (p.Gly1060Asp)
c.3434G>A (p.Gly1145Asp)
n.743G>A
c.2466G>A (n.2466G>A)
c.3566G>A (p.Gly1189Asp)
c.2371G>A (n.2371G>A)
c.3443G>A (p.Gly1148Asp)
c.2401G>A (n.2401G>A)
c.223G>A
c.3431G>A (p.Gly1144Asp)
n.3710G>A
 dbSNP
11g.9832305C>ACA379645610SBF2c.2275G>T (p.Gly759Cys)
c.3571G>T (p.Gly1191Cys)
c.3457G>T (p.Gly1153Cys)
c.3178G>T (p.Gly1060Cys)
c.3433G>T (p.Gly1145Cys)
n.742G>T
c.2465G>T (n.2465G>T)
c.3565G>T (p.Gly1189Cys)
c.2370G>T (n.2370G>T)
c.3442G>T (p.Gly1148Cys)
c.2400G>T (n.2400G>T)
c.222G>T
c.3430G>T (p.Gly1144Cys)
n.3709G>T
11g.9832305C>GCA379645611SBF2c.2275G>C (p.Gly759Arg)
c.3571G>C (p.Gly1191Arg)
c.3457G>C (p.Gly1153Arg)
c.3178G>C (p.Gly1060Arg)
c.3433G>C (p.Gly1145Arg)
n.742G>C
c.2465G>C (n.2465G>C)
c.3565G>C (p.Gly1189Arg)
c.2370G>C (n.2370G>C)
c.3442G>C (p.Gly1148Arg)
c.2400G>C (n.2400G>C)
c.222G>C
c.3430G>C (p.Gly1144Arg)
n.3709G>C
11g.9832305C>TCA379645612SBF2c.2275G>A (p.Gly759Ser)
c.3571G>A (p.Gly1191Ser)
c.3457G>A (p.Gly1153Ser)
c.3178G>A (p.Gly1060Ser)
c.3433G>A (p.Gly1145Ser)
n.742G>A
c.2465G>A (n.2465G>A)
c.3565G>A (p.Gly1189Ser)
c.2370G>A (n.2370G>A)
c.3442G>A (p.Gly1148Ser)
c.2400G>A (n.2400G>A)
c.222G>A
c.3430G>A (p.Gly1144Ser)
n.3709G>A
11g.9832306A>CCA379645613SBF2c.2274T>G (p.Ser758Arg)
c.3570T>G (p.Ser1190Arg)
c.3456T>G (p.Ser1152Arg)
c.3177T>G (p.Ser1059Arg)
c.3432T>G (p.Ser1144Arg)
n.741T>G
c.2464T>G (n.2464T>G)
c.3564T>G (p.Ser1188Arg)
c.2369T>G (n.2369T>G)
c.3441T>G (p.Ser1147Arg)
c.2399T>G (n.2399T>G)
c.221T>G
c.3429T>G (p.Ser1143Arg)
n.3708T>G
 dbSNP gnomAD v4
11g.9832306A>GCA473070675SBF2c.2274T>C (p.Ser758=)
c.3570T>C (p.Ser1190=)
c.3456T>C (p.Ser1152=)
c.3177T>C (p.Ser1059=)
c.3432T>C (p.Ser1144=)
n.741T>C
c.2464T>C (n.2464T>C)
c.3564T>C (p.Ser1188=)
c.2369T>C (n.2369T>C)
c.3441T>C (p.Ser1147=)
c.2399T>C (n.2399T>C)
c.221T>C
c.3429T>C (p.Ser1143=)
n.3708T>C
11g.9832306A>TCA379645614SBF2c.2274T>A (p.Ser758Arg)
c.3570T>A (p.Ser1190Arg)
c.3456T>A (p.Ser1152Arg)
c.3177T>A (p.Ser1059Arg)
c.3432T>A (p.Ser1144Arg)
n.741T>A
c.2464T>A (n.2464T>A)
c.3564T>A (p.Ser1188Arg)
c.2369T>A (n.2369T>A)
c.3441T>A (p.Ser1147Arg)
c.2399T>A (n.2399T>A)
c.221T>A
c.3429T>A (p.Ser1143Arg)
n.3708T>A
11g.9832307C>ACA379645615SBF2c.2273G>T (p.Ser758Ile)
c.3569G>T (p.Ser1190Ile)
c.3455G>T (p.Ser1152Ile)
c.3176G>T (p.Ser1059Ile)
c.3431G>T (p.Ser1144Ile)
n.740G>T
c.2463G>T (n.2463G>T)
c.3563G>T (p.Ser1188Ile)
c.2368G>T (n.2368G>T)
c.3440G>T (p.Ser1147Ile)
c.2398G>T (n.2398G>T)
c.220G>T
c.3428G>T (p.Ser1143Ile)
n.3707G>T
11g.9832307C>GCA379645616SBF2c.2273G>C (p.Ser758Thr)
c.3569G>C (p.Ser1190Thr)
c.3455G>C (p.Ser1152Thr)
c.3176G>C (p.Ser1059Thr)
c.3431G>C (p.Ser1144Thr)
n.740G>C
c.2463G>C (n.2463G>C)
c.3563G>C (p.Ser1188Thr)
c.2368G>C (n.2368G>C)
c.3440G>C (p.Ser1147Thr)
c.2398G>C (n.2398G>C)
c.220G>C
c.3428G>C (p.Ser1143Thr)
n.3707G>C
11g.9832307C>TCA379645617SBF2c.2273G>A (p.Ser758Asn)
c.3569G>A (p.Ser1190Asn)
c.3455G>A (p.Ser1152Asn)
c.3176G>A (p.Ser1059Asn)
c.3431G>A (p.Ser1144Asn)
n.740G>A
c.2463G>A (n.2463G>A)
c.3563G>A (p.Ser1188Asn)
c.2368G>A (n.2368G>A)
c.3440G>A (p.Ser1147Asn)
c.2398G>A (n.2398G>A)
c.220G>A
c.3428G>A (p.Ser1143Asn)
n.3707G>A
11g.9832308T>ACA379645618SBF2c.2272A>T (p.Ser758Cys)
c.3568A>T (p.Ser1190Cys)
c.3454A>T (p.Ser1152Cys)
c.3175A>T (p.Ser1059Cys)
c.3430A>T (p.Ser1144Cys)
n.739A>T
c.2462A>T (n.2462A>T)
c.3562A>T (p.Ser1188Cys)
c.2367A>T (n.2367A>T)
c.3439A>T (p.Ser1147Cys)
c.2397A>T (n.2397A>T)
c.219A>T
c.3427A>T (p.Ser1143Cys)
n.3706A>T
11g.9832308T>CCA379645619SBF2c.2272A>G (p.Ser758Gly)
c.3568A>G (p.Ser1190Gly)
c.3454A>G (p.Ser1152Gly)
c.3175A>G (p.Ser1059Gly)
c.3430A>G (p.Ser1144Gly)
n.739A>G
c.2462A>G (n.2462A>G)
c.3562A>G (p.Ser1188Gly)
c.2367A>G (n.2367A>G)
c.3439A>G (p.Ser1147Gly)
c.2397A>G (n.2397A>G)
c.219A>G
c.3427A>G (p.Ser1143Gly)
n.3706A>G
11g.9832308T>GCA379645620SBF2c.2272A>C (p.Ser758Arg)
c.3568A>C (p.Ser1190Arg)
c.3454A>C (p.Ser1152Arg)
c.3175A>C (p.Ser1059Arg)
c.3430A>C (p.Ser1144Arg)
n.739A>C
c.2462A>C (n.2462A>C)
c.3562A>C (p.Ser1188Arg)
c.2367A>C (n.2367A>C)
c.3439A>C (p.Ser1147Arg)
c.2397A>C (n.2397A>C)
c.219A>C
c.3427A>C (p.Ser1143Arg)
n.3706A>C
11g.9832309T>ACA379645621SBF2c.2271A>T (p.Arg757Ser)
c.3567A>T (p.Arg1189Ser)
c.3453A>T (p.Arg1151Ser)
c.3174A>T (p.Arg1058Ser)
c.3429A>T (p.Arg1143Ser)
n.738A>T
c.2461A>T (n.2461A>T)
c.3561A>T (p.Arg1187Ser)
c.2366A>T (n.2366A>T)
c.3438A>T (p.Arg1146Ser)
c.2396A>T (n.2396A>T)
c.218A>T
c.3426A>T (p.Arg1142Ser)
n.3705A>T
11g.9832309T>CCA473070687SBF2c.2271A>G (p.Arg757=)
c.3567A>G (p.Arg1189=)
c.3453A>G (p.Arg1151=)
c.3174A>G (p.Arg1058=)
c.3429A>G (p.Arg1143=)
n.738A>G
c.2461A>G (n.2461A>G)
c.3561A>G (p.Arg1187=)
c.2366A>G (n.2366A>G)
c.3438A>G (p.Arg1146=)
c.2396A>G (n.2396A>G)
c.218A>G
c.3426A>G (p.Arg1142=)
n.3705A>G
 gnomAD v4
11g.9832309T>GCA379645622SBF2c.2271A>C (p.Arg757Ser)
c.3567A>C (p.Arg1189Ser)
c.3453A>C (p.Arg1151Ser)
c.3174A>C (p.Arg1058Ser)
c.3429A>C (p.Arg1143Ser)
n.738A>C
c.2461A>C (n.2461A>C)
c.3561A>C (p.Arg1187Ser)
c.2366A>C (n.2366A>C)
c.3438A>C (p.Arg1146Ser)
c.2396A>C (n.2396A>C)
c.218A>C
c.3426A>C (p.Arg1142Ser)
n.3705A>C
11g.9832310C>ACA379645623SBF2c.2270G>T (p.Arg757Ile)
c.3566G>T (p.Arg1189Ile)
c.3452G>T (p.Arg1151Ile)
c.3173G>T (p.Arg1058Ile)
c.3428G>T (p.Arg1143Ile)
n.737G>T
c.2460G>T (n.2460G>T)
c.3560G>T (p.Arg1187Ile)
c.2365G>T (n.2365G>T)
c.3437G>T (p.Arg1146Ile)
c.2395G>T (n.2395G>T)
c.217G>T
c.3425G>T (p.Arg1142Ile)
n.3704G>T
11g.9832310C=CA1951790289SBF2c.2270G= (p.Arg757=)
c.3566G= (p.Arg1189=)
c.3452G= (p.Arg1151=)
c.3173G= (p.Arg1058=)
c.3428G= (p.Arg1143=)
n.737G=
c.2460G= (n.2460G=)
c.3560G= (p.Arg1187=)
c.2365G= (n.2365G=)
c.3437G= (p.Arg1146=)
c.2395G= (n.2395G=)
c.217G=
c.3425G= (p.Arg1142=)
n.3704G=
11g.9832310C>GCA379645624SBF2c.2270G>C (p.Arg757Thr)
c.3566G>C (p.Arg1189Thr)
c.3452G>C (p.Arg1151Thr)
c.3173G>C (p.Arg1058Thr)
c.3428G>C (p.Arg1143Thr)
n.737G>C
c.2460G>C (n.2460G>C)
c.3560G>C (p.Arg1187Thr)
c.2365G>C (n.2365G>C)
c.3437G>C (p.Arg1146Thr)
c.2395G>C (n.2395G>C)
c.217G>C
c.3425G>C (p.Arg1142Thr)
n.3704G>C
11g.9832310C>TCA379645625SBF2c.2270G>A (p.Arg757Lys)
c.3566G>A (p.Arg1189Lys)
c.3452G>A (p.Arg1151Lys)
c.3173G>A (p.Arg1058Lys)
c.3428G>A (p.Arg1143Lys)
n.737G>A
c.2460G>A (n.2460G>A)
c.3560G>A (p.Arg1187Lys)
c.2365G>A (n.2365G>A)
c.3437G>A (p.Arg1146Lys)
c.2395G>A (n.2395G>A)
c.217G>A
c.3425G>A (p.Arg1142Lys)
n.3704G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.9832311T>ACA379645626SBF2c.2269A>T (p.Arg757Ter)
c.3565A>T (p.Arg1189Ter)
c.3451A>T (p.Arg1151Ter)
c.3172A>T (p.Arg1058Ter)
c.3427A>T (p.Arg1143Ter)
n.736A>T
c.2459A>T (n.2459A>T)
c.3559A>T (p.Arg1187Ter)
c.2364A>T (n.2364A>T)
c.3436A>T (p.Arg1146Ter)
c.2394A>T (n.2394A>T)
c.216A>T
c.3424A>T (p.Arg1142Ter)
n.3703A>T
11g.9832311T>CCA5881233SBF2c.2269A>G (p.Arg757Gly)
c.3565A>G (p.Arg1189Gly)
c.3451A>G (p.Arg1151Gly)
c.3172A>G (p.Arg1058Gly)
c.3427A>G (p.Arg1143Gly)
n.736A>G
c.2459A>G (n.2459A>G)
c.3559A>G (p.Arg1187Gly)
c.2364A>G (n.2364A>G)
c.3436A>G (p.Arg1146Gly)
c.2394A>G (n.2394A>G)
c.216A>G
c.3424A>G (p.Arg1142Gly)
n.3703A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832311T>GCA473070691SBF2c.2269A>C (p.Arg757=)
c.3565A>C (p.Arg1189=)
c.3451A>C (p.Arg1151=)
c.3172A>C (p.Arg1058=)
c.3427A>C (p.Arg1143=)
n.736A>C
c.2459A>C (n.2459A>C)
c.3559A>C (p.Arg1187=)
c.2364A>C (n.2364A>C)
c.3436A>C (p.Arg1146=)
c.2394A>C (n.2394A>C)
c.216A>C
c.3424A>C (p.Arg1142=)
n.3703A>C
 gnomAD v4
11g.9832311T=CA1951790292SBF2c.2269A= (p.Arg757=)
c.3565A= (p.Arg1189=)
c.3451A= (p.Arg1151=)
c.3172A= (p.Arg1058=)
c.3427A= (p.Arg1143=)
n.736A=
c.2459A= (n.2459A=)
c.3559A= (p.Arg1187=)
c.2364A= (n.2364A=)
c.3436A= (p.Arg1146=)
c.2394A= (n.2394A=)
c.216A=
c.3424A= (p.Arg1142=)
n.3703A=
11g.9832312T>ACA473070695SBF2c.2268A>T (p.Ser756=)
c.3564A>T (p.Ser1188=)
c.3450A>T (p.Ser1150=)
c.3171A>T (p.Ser1057=)
c.3426A>T (p.Ser1142=)
n.735A>T
c.2458A>T (n.2458A>T)
c.3558A>T (p.Ser1186=)
c.2363A>T (n.2363A>T)
c.3435A>T (p.Ser1145=)
c.2393A>T (n.2393A>T)
c.215A>T
c.3423A>T (p.Ser1141=)
n.3702A>T
11g.9832312T>CCA473070694SBF2c.2268A>G (p.Ser756=)
c.3564A>G (p.Ser1188=)
c.3450A>G (p.Ser1150=)
c.3171A>G (p.Ser1057=)
c.3426A>G (p.Ser1142=)
n.735A>G
c.2458A>G (n.2458A>G)
c.3558A>G (p.Ser1186=)
c.2363A>G (n.2363A>G)
c.3435A>G (p.Ser1145=)
c.2393A>G (n.2393A>G)
c.215A>G
c.3423A>G (p.Ser1141=)
n.3702A>G
11g.9832312T>GCA473070696SBF2c.2268A>C (p.Ser756=)
c.3564A>C (p.Ser1188=)
c.3450A>C (p.Ser1150=)
c.3171A>C (p.Ser1057=)
c.3426A>C (p.Ser1142=)
n.735A>C
c.2458A>C (n.2458A>C)
c.3558A>C (p.Ser1186=)
c.2363A>C (n.2363A>C)
c.3435A>C (p.Ser1145=)
c.2393A>C (n.2393A>C)
c.215A>C
c.3423A>C (p.Ser1141=)
n.3702A>C
11g.9832313G>ACA379645627SBF2c.2267C>T (p.Ser756Leu)
c.3563C>T (p.Ser1188Leu)
c.3449C>T (p.Ser1150Leu)
c.3170C>T (p.Ser1057Leu)
c.3425C>T (p.Ser1142Leu)
n.734C>T
c.2457C>T (n.2457C>T)
c.3557C>T (p.Ser1186Leu)
c.2362C>T (n.2362C>T)
c.3434C>T (p.Ser1145Leu)
c.2392C>T (n.2392C>T)
c.214C>T
c.3422C>T (p.Ser1141Leu)
n.3701C>T
11g.9832313G>CCA379645629SBF2c.2267C>G (p.Ser756Ter)
c.3563C>G (p.Ser1188Ter)
c.3449C>G (p.Ser1150Ter)
c.3170C>G (p.Ser1057Ter)
c.3425C>G (p.Ser1142Ter)
n.734C>G
c.2457C>G (n.2457C>G)
c.3557C>G (p.Ser1186Ter)
c.2362C>G (n.2362C>G)
c.3434C>G (p.Ser1145Ter)
c.2392C>G (n.2392C>G)
c.214C>G
c.3422C>G (p.Ser1141Ter)
n.3701C>G
11g.9832313G>TCA379645628SBF2c.2267C>A (p.Ser756Ter)
c.3563C>A (p.Ser1188Ter)
c.3449C>A (p.Ser1150Ter)
c.3170C>A (p.Ser1057Ter)
c.3425C>A (p.Ser1142Ter)
n.734C>A
c.2457C>A (n.2457C>A)
c.3557C>A (p.Ser1186Ter)
c.2362C>A (n.2362C>A)
c.3434C>A (p.Ser1145Ter)
c.2392C>A (n.2392C>A)
c.214C>A
c.3422C>A (p.Ser1141Ter)
n.3701C>A
11g.9832314A>CCA379645630SBF2c.2266T>G (p.Ser756Ala)
c.3562T>G (p.Ser1188Ala)
c.3448T>G (p.Ser1150Ala)
c.3169T>G (p.Ser1057Ala)
c.3424T>G (p.Ser1142Ala)
n.733T>G
c.2456T>G (n.2456T>G)
c.3556T>G (p.Ser1186Ala)
c.2361T>G (n.2361T>G)
c.3433T>G (p.Ser1145Ala)
c.2391T>G (n.2391T>G)
c.213T>G
c.3421T>G (p.Ser1141Ala)
n.3700T>G
11g.9832314A>GCA379645631SBF2c.2266T>C (p.Ser756Pro)
c.3562T>C (p.Ser1188Pro)
c.3448T>C (p.Ser1150Pro)
c.3169T>C (p.Ser1057Pro)
c.3424T>C (p.Ser1142Pro)
n.733T>C
c.2456T>C (n.2456T>C)
c.3556T>C (p.Ser1186Pro)
c.2361T>C (n.2361T>C)
c.3433T>C (p.Ser1145Pro)
c.2391T>C (n.2391T>C)
c.213T>C
c.3421T>C (p.Ser1141Pro)
n.3700T>C
11g.9832314A>TCA379645632SBF2c.2266T>A (p.Ser756Thr)
c.3562T>A (p.Ser1188Thr)
c.3448T>A (p.Ser1150Thr)
c.3169T>A (p.Ser1057Thr)
c.3424T>A (p.Ser1142Thr)
n.733T>A
c.2456T>A (n.2456T>A)
c.3556T>A (p.Ser1186Thr)
c.2361T>A (n.2361T>A)
c.3433T>A (p.Ser1145Thr)
c.2391T>A (n.2391T>A)
c.213T>A
c.3421T>A (p.Ser1141Thr)
n.3700T>A
11g.9832315G>ACA473070702SBF2c.2265C>T (p.Asn755=)
c.3561C>T (p.Asn1187=)
c.3447C>T (p.Asn1149=)
c.3168C>T (p.Asn1056=)
c.3423C>T (p.Asn1141=)
n.732C>T
c.2455C>T (n.2455C>T)
c.3555C>T (p.Asn1185=)
c.2360C>T (n.2360C>T)
c.3432C>T (p.Asn1144=)
c.2390C>T (n.2390C>T)
c.212C>T
c.3420C>T (p.Asn1140=)
n.3699C>T
11g.9832315G>CCA379645633SBF2c.2265C>G (p.Asn755Lys)
c.3561C>G (p.Asn1187Lys)
c.3447C>G (p.Asn1149Lys)
c.3168C>G (p.Asn1056Lys)
c.3423C>G (p.Asn1141Lys)
n.732C>G
c.2455C>G (n.2455C>G)
c.3555C>G (p.Asn1185Lys)
c.2360C>G (n.2360C>G)
c.3432C>G (p.Asn1144Lys)
c.2390C>G (n.2390C>G)
c.212C>G
c.3420C>G (p.Asn1140Lys)
n.3699C>G
11g.9832315G>TCA379645634SBF2c.2265C>A (p.Asn755Lys)
c.3561C>A (p.Asn1187Lys)
c.3447C>A (p.Asn1149Lys)
c.3168C>A (p.Asn1056Lys)
c.3423C>A (p.Asn1141Lys)
n.732C>A
c.2455C>A (n.2455C>A)
c.3555C>A (p.Asn1185Lys)
c.2360C>A (n.2360C>A)
c.3432C>A (p.Asn1144Lys)
c.2390C>A (n.2390C>A)
c.212C>A
c.3420C>A (p.Asn1140Lys)
n.3699C>A
11g.9832316T>ACA379645635SBF2c.2264A>T (p.Asn755Ile)
c.3560A>T (p.Asn1187Ile)
c.3446A>T (p.Asn1149Ile)
c.3167A>T (p.Asn1056Ile)
c.3422A>T (p.Asn1141Ile)
n.731A>T
c.2454A>T (n.2454A>T)
c.3554A>T (p.Asn1185Ile)
c.2359A>T (n.2359A>T)
c.3431A>T (p.Asn1144Ile)
c.2389A>T (n.2389A>T)
c.211A>T
c.3419A>T (p.Asn1140Ile)
n.3698A>T
11g.9832316T>CCA379645636SBF2c.2264A>G (p.Asn755Ser)
c.3560A>G (p.Asn1187Ser)
c.3446A>G (p.Asn1149Ser)
c.3167A>G (p.Asn1056Ser)
c.3422A>G (p.Asn1141Ser)
n.731A>G
c.2454A>G (n.2454A>G)
c.3554A>G (p.Asn1185Ser)
c.2359A>G (n.2359A>G)
c.3431A>G (p.Asn1144Ser)
c.2389A>G (n.2389A>G)
c.211A>G
c.3419A>G (p.Asn1140Ser)
n.3698A>G
11g.9832316T>GCA379645637SBF2c.2264A>C (p.Asn755Thr)
c.3560A>C (p.Asn1187Thr)
c.3446A>C (p.Asn1149Thr)
c.3167A>C (p.Asn1056Thr)
c.3422A>C (p.Asn1141Thr)
n.731A>C
c.2454A>C (n.2454A>C)
c.3554A>C (p.Asn1185Thr)
c.2359A>C (n.2359A>C)
c.3431A>C (p.Asn1144Thr)
c.2389A>C (n.2389A>C)
c.211A>C
c.3419A>C (p.Asn1140Thr)
n.3698A>C
11g.9832317T>ACA379645638SBF2c.2263A>T (p.Asn755Tyr)
c.3559A>T (p.Asn1187Tyr)
c.3445A>T (p.Asn1149Tyr)
c.3166A>T (p.Asn1056Tyr)
c.3421A>T (p.Asn1141Tyr)
n.730A>T
c.2453A>T (n.2453A>T)
c.3553A>T (p.Asn1185Tyr)
c.2358A>T (n.2358A>T)
c.3430A>T (p.Asn1144Tyr)
c.2388A>T (n.2388A>T)
c.210A>T
c.3418A>T (p.Asn1140Tyr)
n.3697A>T
11g.9832317T>CCA5881234SBF2c.2263A>G (p.Asn755Asp)
c.3559A>G (p.Asn1187Asp)
c.3445A>G (p.Asn1149Asp)
c.3166A>G (p.Asn1056Asp)
c.3421A>G (p.Asn1141Asp)
n.730A>G
c.2453A>G (n.2453A>G)
c.3553A>G (p.Asn1185Asp)
c.2358A>G (n.2358A>G)
c.3430A>G (p.Asn1144Asp)
c.2388A>G (n.2388A>G)
c.210A>G
c.3418A>G (p.Asn1140Asp)
n.3697A>G
 dbSNP ExAC gnomAD v2
11g.9832317T>GCA379645639SBF2c.2263A>C (p.Asn755His)
c.3559A>C (p.Asn1187His)
c.3445A>C (p.Asn1149His)
c.3166A>C (p.Asn1056His)
c.3421A>C (p.Asn1141His)
n.730A>C
c.2453A>C (n.2453A>C)
c.3553A>C (p.Asn1185His)
c.2358A>C (n.2358A>C)
c.3430A>C (p.Asn1144His)
c.2388A>C (n.2388A>C)
c.210A>C
c.3418A>C (p.Asn1140His)
n.3697A>C
11g.9832317T=CA1951790296SBF2c.2263A= (p.Asn755=)
c.3559A= (p.Asn1187=)
c.3445A= (p.Asn1149=)
c.3166A= (p.Asn1056=)
c.3421A= (p.Asn1141=)
n.730A=
c.2453A= (n.2453A=)
c.3553A= (p.Asn1185=)
c.2358A= (n.2358A=)
c.3430A= (p.Asn1144=)
c.2388A= (n.2388A=)
c.210A=
c.3418A= (p.Asn1140=)
n.3697A=
11g.9832318C>ACA379645641SBF2c.2262G>T (p.Lys754Asn)
c.3558G>T (p.Lys1186Asn)
c.3444G>T (p.Lys1148Asn)
c.3165G>T (p.Lys1055Asn)
c.3420G>T (p.Lys1140Asn)
n.729G>T
c.2452G>T (n.2452G>T)
c.3552G>T (p.Lys1184Asn)
c.2357G>T (n.2357G>T)
c.3429G>T (p.Lys1143Asn)
c.2387G>T (n.2387G>T)
c.209G>T
c.3417G>T (p.Lys1139Asn)
n.3696G>T
 gnomAD v4
11g.9832318C>GCA379645640SBF2c.2262G>C (p.Lys754Asn)
c.3558G>C (p.Lys1186Asn)
c.3444G>C (p.Lys1148Asn)
c.3165G>C (p.Lys1055Asn)
c.3420G>C (p.Lys1140Asn)
n.729G>C
c.2452G>C (n.2452G>C)
c.3552G>C (p.Lys1184Asn)
c.2357G>C (n.2357G>C)
c.3429G>C (p.Lys1143Asn)
c.2387G>C (n.2387G>C)
c.209G>C
c.3417G>C (p.Lys1139Asn)
n.3696G>C
11g.9832318C>TCA473070712SBF2c.2262G>A (p.Lys754=)
c.3558G>A (p.Lys1186=)
c.3444G>A (p.Lys1148=)
c.3165G>A (p.Lys1055=)
c.3420G>A (p.Lys1140=)
n.729G>A
c.2452G>A (n.2452G>A)
c.3552G>A (p.Lys1184=)
c.2357G>A (n.2357G>A)
c.3429G>A (p.Lys1143=)
c.2387G>A (n.2387G>A)
c.209G>A
c.3417G>A (p.Lys1139=)
n.3696G>A
11g.9832319T>ACA379645642SBF2c.2261A>T (p.Lys754Met)
c.3557A>T (p.Lys1186Met)
c.3443A>T (p.Lys1148Met)
c.3164A>T (p.Lys1055Met)
c.3419A>T (p.Lys1140Met)
n.728A>T
c.2451A>T (n.2451A>T)
c.3551A>T (p.Lys1184Met)
c.2356A>T (n.2356A>T)
c.3428A>T (p.Lys1143Met)
c.2386A>T (n.2386A>T)
c.208A>T
c.3416A>T (p.Lys1139Met)
n.3695A>T
11g.9832319T>CCA379645644SBF2c.2261A>G (p.Lys754Arg)
c.3557A>G (p.Lys1186Arg)
c.3443A>G (p.Lys1148Arg)
c.3164A>G (p.Lys1055Arg)
c.3419A>G (p.Lys1140Arg)
n.728A>G
c.2451A>G (n.2451A>G)
c.3551A>G (p.Lys1184Arg)
c.2356A>G (n.2356A>G)
c.3428A>G (p.Lys1143Arg)
c.2386A>G (n.2386A>G)
c.208A>G
c.3416A>G (p.Lys1139Arg)
n.3695A>G
11g.9832319T>GCA379645643SBF2c.2261A>C (p.Lys754Thr)
c.3557A>C (p.Lys1186Thr)
c.3443A>C (p.Lys1148Thr)
c.3164A>C (p.Lys1055Thr)
c.3419A>C (p.Lys1140Thr)
n.728A>C
c.2451A>C (n.2451A>C)
c.3551A>C (p.Lys1184Thr)
c.2356A>C (n.2356A>C)
c.3428A>C (p.Lys1143Thr)
c.2386A>C (n.2386A>C)
c.208A>C
c.3416A>C (p.Lys1139Thr)
n.3695A>C
11g.9832320T>ACA379645645SBF2c.2260A>T (p.Lys754Ter)
c.3556A>T (p.Lys1186Ter)
c.3442A>T (p.Lys1148Ter)
c.3163A>T (p.Lys1055Ter)
c.3418A>T (p.Lys1140Ter)
n.727A>T
c.2450A>T (n.2450A>T)
c.3550A>T (p.Lys1184Ter)
c.2355A>T (n.2355A>T)
c.3427A>T (p.Lys1143Ter)
c.2385A>T (n.2385A>T)
c.207A>T
c.3415A>T (p.Lys1139Ter)
n.3694A>T
11g.9832320T>CCA379645646SBF2c.2260A>G (p.Lys754Glu)
c.3556A>G (p.Lys1186Glu)
c.3442A>G (p.Lys1148Glu)
c.3163A>G (p.Lys1055Glu)
c.3418A>G (p.Lys1140Glu)
n.727A>G
c.2450A>G (n.2450A>G)
c.3550A>G (p.Lys1184Glu)
c.2355A>G (n.2355A>G)
c.3427A>G (p.Lys1143Glu)
c.2385A>G (n.2385A>G)
c.207A>G
c.3415A>G (p.Lys1139Glu)
n.3694A>G
11g.9832320T>GCA379645647SBF2c.2260A>C (p.Lys754Gln)
c.3556A>C (p.Lys1186Gln)
c.3442A>C (p.Lys1148Gln)
c.3163A>C (p.Lys1055Gln)
c.3418A>C (p.Lys1140Gln)
n.727A>C
c.2450A>C (n.2450A>C)
c.3550A>C (p.Lys1184Gln)
c.2355A>C (n.2355A>C)
c.3427A>C (p.Lys1143Gln)
c.2385A>C (n.2385A>C)
c.207A>C
c.3415A>C (p.Lys1139Gln)
n.3694A>C
11g.9832321C>ACA379645648SBF2c.2259G>T (p.Trp753Cys)
c.3555G>T (p.Trp1185Cys)
c.3441G>T (p.Trp1147Cys)
c.3162G>T (p.Trp1054Cys)
c.3417G>T (p.Trp1139Cys)
n.726G>T
c.2449G>T (n.2449G>T)
c.3549G>T (p.Trp1183Cys)
c.2354G>T (n.2354G>T)
c.3426G>T (p.Trp1142Cys)
c.2384G>T (n.2384G>T)
c.206G>T
c.3414G>T (p.Trp1138Cys)
n.3693G>T
11g.9832321C>GCA379645649SBF2c.2259G>C (p.Trp753Cys)
c.3555G>C (p.Trp1185Cys)
c.3441G>C (p.Trp1147Cys)
c.3162G>C (p.Trp1054Cys)
c.3417G>C (p.Trp1139Cys)
n.726G>C
c.2449G>C (n.2449G>C)
c.3549G>C (p.Trp1183Cys)
c.2354G>C (n.2354G>C)
c.3426G>C (p.Trp1142Cys)
c.2384G>C (n.2384G>C)
c.206G>C
c.3414G>C (p.Trp1138Cys)
n.3693G>C
11g.9832321C>TCA379645650SBF2c.2259G>A (p.Trp753Ter)
c.3555G>A (p.Trp1185Ter)
c.3441G>A (p.Trp1147Ter)
c.3162G>A (p.Trp1054Ter)
c.3417G>A (p.Trp1139Ter)
n.726G>A
c.2449G>A (n.2449G>A)
c.3549G>A (p.Trp1183Ter)
c.2354G>A (n.2354G>A)
c.3426G>A (p.Trp1142Ter)
c.2384G>A (n.2384G>A)
c.206G>A
c.3414G>A (p.Trp1138Ter)
n.3693G>A
11g.9832322C>ACA379645651SBF2c.2258G>T (p.Trp753Leu)
c.3554G>T (p.Trp1185Leu)
c.3440G>T (p.Trp1147Leu)
c.3161G>T (p.Trp1054Leu)
c.3416G>T (p.Trp1139Leu)
n.725G>T
c.2448G>T (n.2448G>T)
c.3548G>T (p.Trp1183Leu)
c.2353G>T (n.2353G>T)
c.3425G>T (p.Trp1142Leu)
c.2383G>T (n.2383G>T)
c.205G>T
c.3413G>T (p.Trp1138Leu)
n.3692G>T
11g.9832322C>GCA379645652SBF2c.2258G>C (p.Trp753Ser)
c.3554G>C (p.Trp1185Ser)
c.3440G>C (p.Trp1147Ser)
c.3161G>C (p.Trp1054Ser)
c.3416G>C (p.Trp1139Ser)
n.725G>C
c.2448G>C (n.2448G>C)
c.3548G>C (p.Trp1183Ser)
c.2353G>C (n.2353G>C)
c.3425G>C (p.Trp1142Ser)
c.2383G>C (n.2383G>C)
c.205G>C
c.3413G>C (p.Trp1138Ser)
n.3692G>C
11g.9832322C>TCA379645653SBF2c.2258G>A (p.Trp753Ter)
c.3554G>A (p.Trp1185Ter)
c.3440G>A (p.Trp1147Ter)
c.3161G>A (p.Trp1054Ter)
c.3416G>A (p.Trp1139Ter)
n.725G>A
c.2448G>A (n.2448G>A)
c.3548G>A (p.Trp1183Ter)
c.2353G>A (n.2353G>A)
c.3425G>A (p.Trp1142Ter)
c.2383G>A (n.2383G>A)
c.205G>A
c.3413G>A (p.Trp1138Ter)
n.3692G>A
11g.9832323A>CCA379645654SBF2c.2257T>G (p.Trp753Gly)
c.3553T>G (p.Trp1185Gly)
c.3439T>G (p.Trp1147Gly)
c.3160T>G (p.Trp1054Gly)
c.3415T>G (p.Trp1139Gly)
n.724T>G
c.2447T>G (n.2447T>G)
c.3547T>G (p.Trp1183Gly)
c.2352T>G (n.2352T>G)
c.3424T>G (p.Trp1142Gly)
c.2382T>G (n.2382T>G)
c.204T>G
c.3412T>G (p.Trp1138Gly)
n.3691T>G
11g.9832323A>GCA379645655SBF2c.2257T>C (p.Trp753Arg)
c.3553T>C (p.Trp1185Arg)
c.3439T>C (p.Trp1147Arg)
c.3160T>C (p.Trp1054Arg)
c.3415T>C (p.Trp1139Arg)
n.724T>C
c.2447T>C (n.2447T>C)
c.3547T>C (p.Trp1183Arg)
c.2352T>C (n.2352T>C)
c.3424T>C (p.Trp1142Arg)
c.2382T>C (n.2382T>C)
c.204T>C
c.3412T>C (p.Trp1138Arg)
n.3691T>C
 COSMIC
11g.9832323A>TCA379645656SBF2c.2257T>A (p.Trp753Arg)
c.3553T>A (p.Trp1185Arg)
c.3439T>A (p.Trp1147Arg)
c.3160T>A (p.Trp1054Arg)
c.3415T>A (p.Trp1139Arg)
n.724T>A
c.2447T>A (n.2447T>A)
c.3547T>A (p.Trp1183Arg)
c.2352T>A (n.2352T>A)
c.3424T>A (p.Trp1142Arg)
c.2382T>A (n.2382T>A)
c.204T>A
c.3412T>A (p.Trp1138Arg)
n.3691T>A
11g.9832324A>CCA379645658SBF2c.2256T>G (p.Cys752Trp)
c.3552T>G (p.Cys1184Trp)
c.3438T>G (p.Cys1146Trp)
c.3159T>G (p.Cys1053Trp)
c.3414T>G (p.Cys1138Trp)
n.723T>G
c.2446T>G (n.2446T>G)
c.3546T>G (p.Cys1182Trp)
c.2351T>G (n.2351T>G)
c.3423T>G (p.Cys1141Trp)
c.2381T>G (n.2381T>G)
c.203T>G
c.3411T>G (p.Cys1137Trp)
n.3690T>G
11g.9832324A>GCA473070725SBF2c.2256T>C (p.Cys752=)
c.3552T>C (p.Cys1184=)
c.3438T>C (p.Cys1146=)
c.3159T>C (p.Cys1053=)
c.3414T>C (p.Cys1138=)
n.723T>C
c.2446T>C (n.2446T>C)
c.3546T>C (p.Cys1182=)
c.2351T>C (n.2351T>C)
c.3423T>C (p.Cys1141=)
c.2381T>C (n.2381T>C)
c.203T>C
c.3411T>C (p.Cys1137=)
n.3690T>C
11g.9832324A>TCA379645657SBF2c.2256T>A (p.Cys752Ter)
c.3552T>A (p.Cys1184Ter)
c.3438T>A (p.Cys1146Ter)
c.3159T>A (p.Cys1053Ter)
c.3414T>A (p.Cys1138Ter)
n.723T>A
c.2446T>A (n.2446T>A)
c.3546T>A (p.Cys1182Ter)
c.2351T>A (n.2351T>A)
c.3423T>A (p.Cys1141Ter)
c.2381T>A (n.2381T>A)
c.203T>A
c.3411T>A (p.Cys1137Ter)
n.3690T>A
11g.9832325C>ACA379645659SBF2c.2255G>T (p.Cys752Phe)
c.3551G>T (p.Cys1184Phe)
c.3437G>T (p.Cys1146Phe)
c.3158G>T (p.Cys1053Phe)
c.3413G>T (p.Cys1138Phe)
n.722G>T
c.2445G>T (n.2445G>T)
c.3545G>T (p.Cys1182Phe)
c.2350G>T (n.2350G>T)
c.3422G>T (p.Cys1141Phe)
c.2380G>T (n.2380G>T)
c.202G>T
c.3410G>T (p.Cys1137Phe)
n.3689G>T
11g.9832325C>GCA379645660SBF2c.2255G>C (p.Cys752Ser)
c.3551G>C (p.Cys1184Ser)
c.3437G>C (p.Cys1146Ser)
c.3158G>C (p.Cys1053Ser)
c.3413G>C (p.Cys1138Ser)
n.722G>C
c.2445G>C (n.2445G>C)
c.3545G>C (p.Cys1182Ser)
c.2350G>C (n.2350G>C)
c.3422G>C (p.Cys1141Ser)
c.2380G>C (n.2380G>C)
c.202G>C
c.3410G>C (p.Cys1137Ser)
n.3689G>C
11g.9832325C>TCA379645661SBF2c.2255G>A (p.Cys752Tyr)
c.3551G>A (p.Cys1184Tyr)
c.3437G>A (p.Cys1146Tyr)
c.3158G>A (p.Cys1053Tyr)
c.3413G>A (p.Cys1138Tyr)
n.722G>A
c.2445G>A (n.2445G>A)
c.3545G>A (p.Cys1182Tyr)
c.2350G>A (n.2350G>A)
c.3422G>A (p.Cys1141Tyr)
c.2380G>A (n.2380G>A)
c.202G>A
c.3410G>A (p.Cys1137Tyr)
n.3689G>A
11g.9832326A=CA1951790300SBF2c.2254T= (p.Cys752=)
c.3550T= (p.Cys1184=)
c.3436T= (p.Cys1146=)
c.3157T= (p.Cys1053=)
c.3412T= (p.Cys1138=)
n.721T=
c.2444T= (n.2444T=)
c.3544T= (p.Cys1182=)
c.2349T= (n.2349T=)
c.3421T= (p.Cys1141=)
c.2379T= (n.2379T=)
c.201T=
c.3409T= (p.Cys1137=)
n.3688T=
11g.9832326A>CCA379645662SBF2c.2254T>G (p.Cys752Gly)
c.3550T>G (p.Cys1184Gly)
c.3436T>G (p.Cys1146Gly)
c.3157T>G (p.Cys1053Gly)
c.3412T>G (p.Cys1138Gly)
n.721T>G
c.2444T>G (n.2444T>G)
c.3544T>G (p.Cys1182Gly)
c.2349T>G (n.2349T>G)
c.3421T>G (p.Cys1141Gly)
c.2379T>G (n.2379T>G)
c.201T>G
c.3409T>G (p.Cys1137Gly)
n.3688T>G
11g.9832326A>GCA5881235SBF2c.2254T>C (p.Cys752Arg)
c.3550T>C (p.Cys1184Arg)
c.3436T>C (p.Cys1146Arg)
c.3157T>C (p.Cys1053Arg)
c.3412T>C (p.Cys1138Arg)
n.721T>C
c.2444T>C (n.2444T>C)
c.3544T>C (p.Cys1182Arg)
c.2349T>C (n.2349T>C)
c.3421T>C (p.Cys1141Arg)
c.2379T>C (n.2379T>C)
c.201T>C
c.3409T>C (p.Cys1137Arg)
n.3688T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832326A>TCA379645663SBF2c.2254T>A (p.Cys752Ser)
c.3550T>A (p.Cys1184Ser)
c.3436T>A (p.Cys1146Ser)
c.3157T>A (p.Cys1053Ser)
c.3412T>A (p.Cys1138Ser)
n.721T>A
c.2444T>A (n.2444T>A)
c.3544T>A (p.Cys1182Ser)
c.2349T>A (n.2349T>A)
c.3421T>A (p.Cys1141Ser)
c.2379T>A (n.2379T>A)
c.201T>A
c.3409T>A (p.Cys1137Ser)
n.3688T>A
11g.9832327T>ACA473070735SBF2c.2253A>T (p.Val751=)
c.3549A>T (p.Val1183=)
c.3435A>T (p.Val1145=)
c.3156A>T (p.Val1052=)
c.3411A>T (p.Val1137=)
n.720A>T
c.2443A>T (n.2443A>T)
c.3543A>T (p.Val1181=)
c.2348A>T (n.2348A>T)
c.3420A>T (p.Val1140=)
c.2378A>T (n.2378A>T)
c.200A>T
c.3408A>T (p.Val1136=)
n.3687A>T
 gnomAD v4
11g.9832327T>CCA473070734SBF2c.2253A>G (p.Val751=)
c.3549A>G (p.Val1183=)
c.3435A>G (p.Val1145=)
c.3156A>G (p.Val1052=)
c.3411A>G (p.Val1137=)
n.720A>G
c.2443A>G (n.2443A>G)
c.3543A>G (p.Val1181=)
c.2348A>G (n.2348A>G)
c.3420A>G (p.Val1140=)
c.2378A>G (n.2378A>G)
c.200A>G
c.3408A>G (p.Val1136=)
n.3687A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.9832327T>GCA473070732SBF2c.2253A>C (p.Val751=)
c.3549A>C (p.Val1183=)
c.3435A>C (p.Val1145=)
c.3156A>C (p.Val1052=)
c.3411A>C (p.Val1137=)
n.720A>C
c.2443A>C (n.2443A>C)
c.3543A>C (p.Val1181=)
c.2348A>C (n.2348A>C)
c.3420A>C (p.Val1140=)
c.2378A>C (n.2378A>C)
c.200A>C
c.3408A>C (p.Val1136=)
n.3687A>C
11g.9832327T=CA1951790301SBF2c.2253A= (p.Val751=)
c.3549A= (p.Val1183=)
c.3435A= (p.Val1145=)
c.3156A= (p.Val1052=)
c.3411A= (p.Val1137=)
n.720A=
c.2443A= (n.2443A=)
c.3543A= (p.Val1181=)
c.2348A= (n.2348A=)
c.3420A= (p.Val1140=)
c.2378A= (n.2378A=)
c.200A=
c.3408A= (p.Val1136=)
n.3687A=
11g.9832328A=CA1951790302SBF2c.2252T= (p.Val751=)
c.3548T= (p.Val1183=)
c.3434T= (p.Val1145=)
c.3155T= (p.Val1052=)
c.3410T= (p.Val1137=)
n.719T=
c.2442T= (n.2442T=)
c.3542T= (p.Val1181=)
c.2347T= (n.2347T=)
c.3419T= (p.Val1140=)
c.2377T= (n.2377T=)
c.199T=
c.3407T= (p.Val1136=)
n.3686T=
11g.9832328A>CCA379645664SBF2c.2252T>G (p.Val751Gly)
c.3548T>G (p.Val1183Gly)
c.3434T>G (p.Val1145Gly)
c.3155T>G (p.Val1052Gly)
c.3410T>G (p.Val1137Gly)
n.719T>G
c.2442T>G (n.2442T>G)
c.3542T>G (p.Val1181Gly)
c.2347T>G (n.2347T>G)
c.3419T>G (p.Val1140Gly)
c.2377T>G (n.2377T>G)
c.199T>G
c.3407T>G (p.Val1136Gly)
n.3686T>G
11g.9832328A>GCA379645665SBF2c.2252T>C (p.Val751Ala)
c.3548T>C (p.Val1183Ala)
c.3434T>C (p.Val1145Ala)
c.3155T>C (p.Val1052Ala)
c.3410T>C (p.Val1137Ala)
n.719T>C
c.2442T>C (n.2442T>C)
c.3542T>C (p.Val1181Ala)
c.2347T>C (n.2347T>C)
c.3419T>C (p.Val1140Ala)
c.2377T>C (n.2377T>C)
c.199T>C
c.3407T>C (p.Val1136Ala)
n.3686T>C
 dbSNP gnomAD v2 gnomAD v4
11g.9832328A>TCA379645666SBF2c.2252T>A (p.Val751Glu)
c.3548T>A (p.Val1183Glu)
c.3434T>A (p.Val1145Glu)
c.3155T>A (p.Val1052Glu)
c.3410T>A (p.Val1137Glu)
n.719T>A
c.2442T>A (n.2442T>A)
c.3542T>A (p.Val1181Glu)
c.2347T>A (n.2347T>A)
c.3419T>A (p.Val1140Glu)
c.2377T>A (n.2377T>A)
c.199T>A
c.3407T>A (p.Val1136Glu)
n.3686T>A
11g.9832329C>ACA379645667SBF2c.2251G>T (p.Val751Leu)
c.3547G>T (p.Val1183Leu)
c.3433G>T (p.Val1145Leu)
c.3154G>T (p.Val1052Leu)
c.3409G>T (p.Val1137Leu)
n.718G>T
c.2441G>T (n.2441G>T)
c.3541G>T (p.Val1181Leu)
c.2346G>T (n.2346G>T)
c.3418G>T (p.Val1140Leu)
c.2376G>T (n.2376G>T)
c.198G>T
c.3406G>T (p.Val1136Leu)
n.3685G>T
 ClinVar dbSNP
11g.9832329C>GCA379645668SBF2c.2251G>C (p.Val751Leu)
c.3547G>C (p.Val1183Leu)
c.3433G>C (p.Val1145Leu)
c.3154G>C (p.Val1052Leu)
c.3409G>C (p.Val1137Leu)
n.718G>C
c.2441G>C (n.2441G>C)
c.3541G>C (p.Val1181Leu)
c.2346G>C (n.2346G>C)
c.3418G>C (p.Val1140Leu)
c.2376G>C (n.2376G>C)
c.198G>C
c.3406G>C (p.Val1136Leu)
n.3685G>C
 COSMIC
11g.9832329C>TCA379645669SBF2c.2251G>A (p.Val751Ile)
c.3547G>A (p.Val1183Ile)
c.3433G>A (p.Val1145Ile)
c.3154G>A (p.Val1052Ile)
c.3409G>A (p.Val1137Ile)
n.718G>A
c.2441G>A (n.2441G>A)
c.3541G>A (p.Val1181Ile)
c.2346G>A (n.2346G>A)
c.3418G>A (p.Val1140Ile)
c.2376G>A (n.2376G>A)
c.198G>A
c.3406G>A (p.Val1136Ile)
n.3685G>A
11g.9832330A>CCA473070741SBF2c.2250T>G (p.Val750=)
c.3546T>G (p.Val1182=)
c.3432T>G (p.Val1144=)
c.3153T>G (p.Val1051=)
c.3408T>G (p.Val1136=)
n.717T>G
c.2440T>G (n.2440T>G)
c.3540T>G (p.Val1180=)
c.2345T>G (n.2345T>G)
c.3417T>G (p.Val1139=)
c.2375T>G (n.2375T>G)
c.197T>G
c.3405T>G (p.Val1135=)
n.3684T>G
11g.9832330A>GCA473070743SBF2c.2250T>C (p.Val750=)
c.3546T>C (p.Val1182=)
c.3432T>C (p.Val1144=)
c.3153T>C (p.Val1051=)
c.3408T>C (p.Val1136=)
n.717T>C
c.2440T>C (n.2440T>C)
c.3540T>C (p.Val1180=)
c.2345T>C (n.2345T>C)
c.3417T>C (p.Val1139=)
c.2375T>C (n.2375T>C)
c.197T>C
c.3405T>C (p.Val1135=)
n.3684T>C
11g.9832330A>TCA473070745SBF2c.2250T>A (p.Val750=)
c.3546T>A (p.Val1182=)
c.3432T>A (p.Val1144=)
c.3153T>A (p.Val1051=)
c.3408T>A (p.Val1136=)
n.717T>A
c.2440T>A (n.2440T>A)
c.3540T>A (p.Val1180=)
c.2345T>A (n.2345T>A)
c.3417T>A (p.Val1139=)
c.2375T>A (n.2375T>A)
c.197T>A
c.3405T>A (p.Val1135=)
n.3684T>A
11g.9832331A>CCA379645672SBF2c.2249T>G (p.Val750Gly)
c.3545T>G (p.Val1182Gly)
c.3431T>G (p.Val1144Gly)
c.3152T>G (p.Val1051Gly)
c.3407T>G (p.Val1136Gly)
n.716T>G
c.2439T>G (n.2439T>G)
c.3539T>G (p.Val1180Gly)
c.2344T>G (n.2344T>G)
c.3416T>G (p.Val1139Gly)
c.2374T>G (n.2374T>G)
c.196T>G
c.3404T>G (p.Val1135Gly)
n.3683T>G
11g.9832331A>GCA379645671SBF2c.2249T>C (p.Val750Ala)
c.3545T>C (p.Val1182Ala)
c.3431T>C (p.Val1144Ala)
c.3152T>C (p.Val1051Ala)
c.3407T>C (p.Val1136Ala)
n.716T>C
c.2439T>C (n.2439T>C)
c.3539T>C (p.Val1180Ala)
c.2344T>C (n.2344T>C)
c.3416T>C (p.Val1139Ala)
c.2374T>C (n.2374T>C)
c.196T>C
c.3404T>C (p.Val1135Ala)
n.3683T>C
11g.9832331A>TCA379645670SBF2c.2249T>A (p.Val750Asp)
c.3545T>A (p.Val1182Asp)
c.3431T>A (p.Val1144Asp)
c.3152T>A (p.Val1051Asp)
c.3407T>A (p.Val1136Asp)
n.716T>A
c.2439T>A (n.2439T>A)
c.3539T>A (p.Val1180Asp)
c.2344T>A (n.2344T>A)
c.3416T>A (p.Val1139Asp)
c.2374T>A (n.2374T>A)
c.196T>A
c.3404T>A (p.Val1135Asp)
n.3683T>A
11g.9832332C>ACA379645673SBF2c.2248G>T (p.Val750Phe)
c.3544G>T (p.Val1182Phe)
c.3430G>T (p.Val1144Phe)
c.3151G>T (p.Val1051Phe)
c.3406G>T (p.Val1136Phe)
n.715G>T
c.2438G>T (n.2438G>T)
c.3538G>T (p.Val1180Phe)
c.2343G>T (n.2343G>T)
c.3415G>T (p.Val1139Phe)
c.2373G>T (n.2373G>T)
c.195G>T
c.3403G>T (p.Val1135Phe)
n.3682G>T
 gnomAD v4
11g.9832332C>GCA379645674SBF2c.2248G>C (p.Val750Leu)
c.3544G>C (p.Val1182Leu)
c.3430G>C (p.Val1144Leu)
c.3151G>C (p.Val1051Leu)
c.3406G>C (p.Val1136Leu)
n.715G>C
c.2438G>C (n.2438G>C)
c.3538G>C (p.Val1180Leu)
c.2343G>C (n.2343G>C)
c.3415G>C (p.Val1139Leu)
c.2373G>C (n.2373G>C)
c.195G>C
c.3403G>C (p.Val1135Leu)
n.3682G>C
11g.9832332C>TCA379645675SBF2c.2248G>A (p.Val750Ile)
c.3544G>A (p.Val1182Ile)
c.3430G>A (p.Val1144Ile)
c.3151G>A (p.Val1051Ile)
c.3406G>A (p.Val1136Ile)
n.715G>A
c.2438G>A (n.2438G>A)
c.3538G>A (p.Val1180Ile)
c.2343G>A (n.2343G>A)
c.3415G>A (p.Val1139Ile)
c.2373G>A (n.2373G>A)
c.195G>A
c.3403G>A (p.Val1135Ile)
n.3682G>A
11g.9832333A>CCA473070750SBF2c.2247T>G (p.Pro749=)
c.3543T>G (p.Pro1181=)
c.3429T>G (p.Pro1143=)
c.3150T>G (p.Pro1050=)
c.3405T>G (p.Pro1135=)
n.714T>G
c.2437T>G (n.2437T>G)
c.3537T>G (p.Pro1179=)
c.2342T>G (n.2342T>G)
c.3414T>G (p.Pro1138=)
c.2372T>G (n.2372T>G)
c.194T>G
c.3402T>G (p.Pro1134=)
n.3681T>G
11g.9832333A>GCA473070751SBF2c.2247T>C (p.Pro749=)
c.3543T>C (p.Pro1181=)
c.3429T>C (p.Pro1143=)
c.3150T>C (p.Pro1050=)
c.3405T>C (p.Pro1135=)
n.714T>C
c.2437T>C (n.2437T>C)
c.3537T>C (p.Pro1179=)
c.2342T>C (n.2342T>C)
c.3414T>C (p.Pro1138=)
c.2372T>C (n.2372T>C)
c.194T>C
c.3402T>C (p.Pro1134=)
n.3681T>C
11g.9832333A>TCA473070753SBF2c.2247T>A (p.Pro749=)
c.3543T>A (p.Pro1181=)
c.3429T>A (p.Pro1143=)
c.3150T>A (p.Pro1050=)
c.3405T>A (p.Pro1135=)
n.714T>A
c.2437T>A (n.2437T>A)
c.3537T>A (p.Pro1179=)
c.2342T>A (n.2342T>A)
c.3414T>A (p.Pro1138=)
c.2372T>A (n.2372T>A)
c.194T>A
c.3402T>A (p.Pro1134=)
n.3681T>A
11g.9832334G>ACA379645676SBF2c.2246C>T (p.Pro749Leu)
c.3542C>T (p.Pro1181Leu)
c.3428C>T (p.Pro1143Leu)
c.3149C>T (p.Pro1050Leu)
c.3404C>T (p.Pro1135Leu)
n.713C>T
c.2436C>T (n.2436C>T)
c.3536C>T (p.Pro1179Leu)
c.2341C>T (n.2341C>T)
c.3413C>T (p.Pro1138Leu)
c.2371C>T (n.2371C>T)
c.193C>T
c.3401C>T (p.Pro1134Leu)
n.3680C>T
11g.9832334G>CCA379645677SBF2c.2246C>G (p.Pro749Arg)
c.3542C>G (p.Pro1181Arg)
c.3428C>G (p.Pro1143Arg)
c.3149C>G (p.Pro1050Arg)
c.3404C>G (p.Pro1135Arg)
n.713C>G
c.2436C>G (n.2436C>G)
c.3536C>G (p.Pro1179Arg)
c.2341C>G (n.2341C>G)
c.3413C>G (p.Pro1138Arg)
c.2371C>G (n.2371C>G)
c.193C>G
c.3401C>G (p.Pro1134Arg)
n.3680C>G
11g.9832334G>TCA379645678SBF2c.2246C>A (p.Pro749His)
c.3542C>A (p.Pro1181His)
c.3428C>A (p.Pro1143His)
c.3149C>A (p.Pro1050His)
c.3404C>A (p.Pro1135His)
n.713C>A
c.2436C>A (n.2436C>A)
c.3536C>A (p.Pro1179His)
c.2341C>A (n.2341C>A)
c.3413C>A (p.Pro1138His)
c.2371C>A (n.2371C>A)
c.193C>A
c.3401C>A (p.Pro1134His)
n.3680C>A
11g.9832335G>ACA379645679SBF2c.2245C>T (p.Pro749Ser)
c.3541C>T (p.Pro1181Ser)
c.3427C>T (p.Pro1143Ser)
c.3148C>T (p.Pro1050Ser)
c.3403C>T (p.Pro1135Ser)
n.712C>T
c.2435C>T (n.2435C>T)
c.3535C>T (p.Pro1179Ser)
c.2340C>T (n.2340C>T)
c.3412C>T (p.Pro1138Ser)
c.2370C>T (n.2370C>T)
c.192C>T
c.3400C>T (p.Pro1134Ser)
n.3679C>T
11g.9832335G>CCA379645680SBF2c.2245C>G (p.Pro749Ala)
c.3541C>G (p.Pro1181Ala)
c.3427C>G (p.Pro1143Ala)
c.3148C>G (p.Pro1050Ala)
c.3403C>G (p.Pro1135Ala)
n.712C>G
c.2435C>G (n.2435C>G)
c.3535C>G (p.Pro1179Ala)
c.2340C>G (n.2340C>G)
c.3412C>G (p.Pro1138Ala)
c.2370C>G (n.2370C>G)
c.192C>G
c.3400C>G (p.Pro1134Ala)
n.3679C>G
11g.9832335G>TCA379645681SBF2c.2245C>A (p.Pro749Thr)
c.3541C>A (p.Pro1181Thr)
c.3427C>A (p.Pro1143Thr)
c.3148C>A (p.Pro1050Thr)
c.3403C>A (p.Pro1135Thr)
n.712C>A
c.2435C>A (n.2435C>A)
c.3535C>A (p.Pro1179Thr)
c.2340C>A (n.2340C>A)
c.3412C>A (p.Pro1138Thr)
c.2370C>A (n.2370C>A)
c.192C>A
c.3400C>A (p.Pro1134Thr)
n.3679C>A
11g.9832336C>ACA473070758SBF2c.2244G>T (p.Leu748=)
c.3540G>T (p.Leu1180=)
c.3426G>T (p.Leu1142=)
c.3147G>T (p.Leu1049=)
c.3402G>T (p.Leu1134=)
n.711G>T
c.2434G>T (n.2434G>T)
c.3534G>T (p.Leu1178=)
c.2339G>T (n.2339G>T)
c.3411G>T (p.Leu1137=)
c.2369G>T (n.2369G>T)
c.191G>T
c.3399G>T (p.Leu1133=)
n.3678G>T
11g.9832336C=CA1951790306SBF2c.2244G= (p.Leu748=)
c.3540G= (p.Leu1180=)
c.3426G= (p.Leu1142=)
c.3147G= (p.Leu1049=)
c.3402G= (p.Leu1134=)
n.711G=
c.2434G= (n.2434G=)
c.3534G= (p.Leu1178=)
c.2339G= (n.2339G=)
c.3411G= (p.Leu1137=)
c.2369G= (n.2369G=)
c.191G=
c.3399G= (p.Leu1133=)
n.3678G=
11g.9832336C>GCA5881236SBF2c.2244G>C (p.Leu748=)
c.3540G>C (p.Leu1180=)
c.3426G>C (p.Leu1142=)
c.3147G>C (p.Leu1049=)
c.3402G>C (p.Leu1134=)
n.711G>C
c.2434G>C (n.2434G>C)
c.3534G>C (p.Leu1178=)
c.2339G>C (n.2339G>C)
c.3411G>C (p.Leu1137=)
c.2369G>C (n.2369G>C)
c.191G>C
c.3399G>C (p.Leu1133=)
n.3678G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832336C>TCA473070760SBF2c.2244G>A (p.Leu748=)
c.3540G>A (p.Leu1180=)
c.3426G>A (p.Leu1142=)
c.3147G>A (p.Leu1049=)
c.3402G>A (p.Leu1134=)
n.711G>A
c.2434G>A (n.2434G>A)
c.3534G>A (p.Leu1178=)
c.2339G>A (n.2339G>A)
c.3411G>A (p.Leu1137=)
c.2369G>A (n.2369G>A)
c.191G>A
c.3399G>A (p.Leu1133=)
n.3678G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.9832337A>CCA379645682SBF2c.2243T>G (p.Leu748Arg)
c.3539T>G (p.Leu1180Arg)
c.3425T>G (p.Leu1142Arg)
c.3146T>G (p.Leu1049Arg)
c.3401T>G (p.Leu1134Arg)
n.710T>G
c.2433T>G (n.2433T>G)
c.3533T>G (p.Leu1178Arg)
c.2338T>G (n.2338T>G)
c.3410T>G (p.Leu1137Arg)
c.2368T>G (n.2368T>G)
c.190T>G
c.3398T>G (p.Leu1133Arg)
n.3677T>G
11g.9832337A>GCA379645683SBF2c.2243T>C (p.Leu748Pro)
c.3539T>C (p.Leu1180Pro)
c.3425T>C (p.Leu1142Pro)
c.3146T>C (p.Leu1049Pro)
c.3401T>C (p.Leu1134Pro)
n.710T>C
c.2433T>C (n.2433T>C)
c.3533T>C (p.Leu1178Pro)
c.2338T>C (n.2338T>C)
c.3410T>C (p.Leu1137Pro)
c.2368T>C (n.2368T>C)
c.190T>C
c.3398T>C (p.Leu1133Pro)
n.3677T>C
11g.9832337A>TCA379645684SBF2c.2243T>A (p.Leu748Gln)
c.3539T>A (p.Leu1180Gln)
c.3425T>A (p.Leu1142Gln)
c.3146T>A (p.Leu1049Gln)
c.3401T>A (p.Leu1134Gln)
n.710T>A
c.2433T>A (n.2433T>A)
c.3533T>A (p.Leu1178Gln)
c.2338T>A (n.2338T>A)
c.3410T>A (p.Leu1137Gln)
c.2368T>A (n.2368T>A)
c.190T>A
c.3398T>A (p.Leu1133Gln)
n.3677T>A
 gnomAD v4
11g.9832338G>ACA473070764SBF2c.2242C>T (p.Leu748=)
c.3538C>T (p.Leu1180=)
c.3424C>T (p.Leu1142=)
c.3145C>T (p.Leu1049=)
c.3400C>T (p.Leu1134=)
n.709C>T
c.2432C>T (n.2432C>T)
c.3532C>T (p.Leu1178=)
c.2337C>T (n.2337C>T)
c.3409C>T (p.Leu1137=)
c.2367C>T (n.2367C>T)
c.189C>T
c.3397C>T (p.Leu1133=)
n.3676C>T
11g.9832338G>CCA379645686SBF2c.2242C>G (p.Leu748Val)
c.3538C>G (p.Leu1180Val)
c.3424C>G (p.Leu1142Val)
c.3145C>G (p.Leu1049Val)
c.3400C>G (p.Leu1134Val)
n.709C>G
c.2432C>G (n.2432C>G)
c.3532C>G (p.Leu1178Val)
c.2337C>G (n.2337C>G)
c.3409C>G (p.Leu1137Val)
c.2367C>G (n.2367C>G)
c.189C>G
c.3397C>G (p.Leu1133Val)
n.3676C>G
11g.9832338G>TCA379645685SBF2c.2242C>A (p.Leu748Met)
c.3538C>A (p.Leu1180Met)
c.3424C>A (p.Leu1142Met)
c.3145C>A (p.Leu1049Met)
c.3400C>A (p.Leu1134Met)
n.709C>A
c.2432C>A (n.2432C>A)
c.3532C>A (p.Leu1178Met)
c.2337C>A (n.2337C>A)
c.3409C>A (p.Leu1137Met)
c.2367C>A (n.2367C>A)
c.189C>A
c.3397C>A (p.Leu1133Met)
n.3676C>A
11g.9832339G>ACA473070768SBF2c.2241C>T (p.Arg747=)
c.3537C>T (p.Arg1179=)
c.3423C>T (p.Arg1141=)
c.3144C>T (p.Arg1048=)
c.3399C>T (p.Arg1133=)
n.708C>T
c.2431C>T (n.2431C>T)
c.3531C>T (p.Arg1177=)
c.2336C>T (n.2336C>T)
c.3408C>T (p.Arg1136=)
c.2366C>T (n.2366C>T)
c.188C>T
c.3396C>T (p.Arg1132=)
n.3675C>T
11g.9832339G>CCA473070769SBF2c.2241C>G (p.Arg747=)
c.3537C>G (p.Arg1179=)
c.3423C>G (p.Arg1141=)
c.3144C>G (p.Arg1048=)
c.3399C>G (p.Arg1133=)
n.708C>G
c.2431C>G (n.2431C>G)
c.3531C>G (p.Arg1177=)
c.2336C>G (n.2336C>G)
c.3408C>G (p.Arg1136=)
c.2366C>G (n.2366C>G)
c.188C>G
c.3396C>G (p.Arg1132=)
n.3675C>G
11g.9832339G>TCA473070771SBF2c.2241C>A (p.Arg747=)
c.3537C>A (p.Arg1179=)
c.3423C>A (p.Arg1141=)
c.3144C>A (p.Arg1048=)
c.3399C>A (p.Arg1133=)
n.708C>A
c.2431C>A (n.2431C>A)
c.3531C>A (p.Arg1177=)
c.2336C>A (n.2336C>A)
c.3408C>A (p.Arg1136=)
c.2366C>A (n.2366C>A)
c.188C>A
c.3396C>A (p.Arg1132=)
n.3675C>A
11g.9832340C>ACA379645687SBF2c.2240G>T (p.Arg747Leu)
c.3536G>T (p.Arg1179Leu)
c.3422G>T (p.Arg1141Leu)
c.3143G>T (p.Arg1048Leu)
c.3398G>T (p.Arg1133Leu)
n.707G>T
c.2430G>T (n.2430G>T)
c.3530G>T (p.Arg1177Leu)
c.2335G>T (n.2335G>T)
c.3407G>T (p.Arg1136Leu)
c.2365G>T (n.2365G>T)
c.187G>T
c.3395G>T (p.Arg1132Leu)
n.3674G>T
 gnomAD v4
11g.9832340C=CA1951790310SBF2c.2240G= (p.Arg747=)
c.3536G= (p.Arg1179=)
c.3422G= (p.Arg1141=)
c.3143G= (p.Arg1048=)
c.3398G= (p.Arg1133=)
n.707G=
c.2430G= (n.2430G=)
c.3530G= (p.Arg1177=)
c.2335G= (n.2335G=)
c.3407G= (p.Arg1136=)
c.2365G= (n.2365G=)
c.187G=
c.3395G= (p.Arg1132=)
n.3674G=
11g.9832340C>GCA379645688SBF2c.2240G>C (p.Arg747Pro)
c.3536G>C (p.Arg1179Pro)
c.3422G>C (p.Arg1141Pro)
c.3143G>C (p.Arg1048Pro)
c.3398G>C (p.Arg1133Pro)
n.707G>C
c.2430G>C (n.2430G>C)
c.3530G>C (p.Arg1177Pro)
c.2335G>C (n.2335G>C)
c.3407G>C (p.Arg1136Pro)
c.2365G>C (n.2365G>C)
c.187G>C
c.3395G>C (p.Arg1132Pro)
n.3674G>C
 ClinVar
11g.9832340C>TCA5881237SBF2c.2240G>A (p.Arg747His)
c.3536G>A (p.Arg1179His)
c.3422G>A (p.Arg1141His)
c.3143G>A (p.Arg1048His)
c.3398G>A (p.Arg1133His)
n.707G>A
c.2430G>A (n.2430G>A)
c.3530G>A (p.Arg1177His)
c.2335G>A (n.2335G>A)
c.3407G>A (p.Arg1136His)
c.2365G>A (n.2365G>A)
c.187G>A
c.3395G>A (p.Arg1132His)
n.3674G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832341G>ACA5881238SBF2c.2239C>T (p.Arg747Cys)
c.3535C>T (p.Arg1179Cys)
c.3421C>T (p.Arg1141Cys)
c.3142C>T (p.Arg1048Cys)
c.3397C>T (p.Arg1133Cys)
n.706C>T
c.2429C>T (n.2429C>T)
c.3529C>T (p.Arg1177Cys)
c.2334C>T (n.2334C>T)
c.3406C>T (p.Arg1136Cys)
c.2364C>T (n.2364C>T)
c.186C>T
c.3394C>T (p.Arg1132Cys)
n.3673C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832341G>CCA379645689SBF2c.2239C>G (p.Arg747Gly)
c.3535C>G (p.Arg1179Gly)
c.3421C>G (p.Arg1141Gly)
c.3142C>G (p.Arg1048Gly)
c.3397C>G (p.Arg1133Gly)
n.706C>G
c.2429C>G (n.2429C>G)
c.3529C>G (p.Arg1177Gly)
c.2334C>G (n.2334C>G)
c.3406C>G (p.Arg1136Gly)
c.2364C>G (n.2364C>G)
c.186C>G
c.3394C>G (p.Arg1132Gly)
n.3673C>G
11g.9832341G=CA1951790313SBF2c.2239C= (p.Arg747=)
c.3535C= (p.Arg1179=)
c.3421C= (p.Arg1141=)
c.3142C= (p.Arg1048=)
c.3397C= (p.Arg1133=)
n.706C=
c.2429C= (n.2429C=)
c.3529C= (p.Arg1177=)
c.2334C= (n.2334C=)
c.3406C= (p.Arg1136=)
c.2364C= (n.2364C=)
c.186C=
c.3394C= (p.Arg1132=)
n.3673C=
11g.9832341G>TCA379645690SBF2c.2239C>A (p.Arg747Ser)
c.3535C>A (p.Arg1179Ser)
c.3421C>A (p.Arg1141Ser)
c.3142C>A (p.Arg1048Ser)
c.3397C>A (p.Arg1133Ser)
n.706C>A
c.2429C>A (n.2429C>A)
c.3529C>A (p.Arg1177Ser)
c.2334C>A (n.2334C>A)
c.3406C>A (p.Arg1136Ser)
c.2364C>A (n.2364C>A)
c.186C>A
c.3394C>A (p.Arg1132Ser)
n.3673C>A
11g.9832342A>CCA379645691SBF2c.2238T>G (p.Asn746Lys)
c.3534T>G (p.Asn1178Lys)
c.3420T>G (p.Asn1140Lys)
c.3141T>G (p.Asn1047Lys)
c.3396T>G (p.Asn1132Lys)
n.705T>G
c.2428T>G (n.2428T>G)
c.3528T>G (p.Asn1176Lys)
c.2333T>G (n.2333T>G)
c.3405T>G (p.Asn1135Lys)
c.2363T>G (n.2363T>G)
c.185T>G
c.3393T>G (p.Asn1131Lys)
n.3672T>G
11g.9832342A>GCA473070776SBF2c.2238T>C (p.Asn746=)
c.3534T>C (p.Asn1178=)
c.3420T>C (p.Asn1140=)
c.3141T>C (p.Asn1047=)
c.3396T>C (p.Asn1132=)
n.705T>C
c.2428T>C (n.2428T>C)
c.3528T>C (p.Asn1176=)
c.2333T>C (n.2333T>C)
c.3405T>C (p.Asn1135=)
c.2363T>C (n.2363T>C)
c.185T>C
c.3393T>C (p.Asn1131=)
n.3672T>C
11g.9832342A>TCA379645692SBF2c.2238T>A (p.Asn746Lys)
c.3534T>A (p.Asn1178Lys)
c.3420T>A (p.Asn1140Lys)
c.3141T>A (p.Asn1047Lys)
c.3396T>A (p.Asn1132Lys)
n.705T>A
c.2428T>A (n.2428T>A)
c.3528T>A (p.Asn1176Lys)
c.2333T>A (n.2333T>A)
c.3405T>A (p.Asn1135Lys)
c.2363T>A (n.2363T>A)
c.185T>A
c.3393T>A (p.Asn1131Lys)
n.3672T>A
11g.9832343T>ACA379645693SBF2c.2237A>T (p.Asn746Ile)
c.3533A>T (p.Asn1178Ile)
c.3419A>T (p.Asn1140Ile)
c.3140A>T (p.Asn1047Ile)
c.3395A>T (p.Asn1132Ile)
n.704A>T
c.2427A>T (n.2427A>T)
c.3527A>T (p.Asn1176Ile)
c.2332A>T (n.2332A>T)
c.3404A>T (p.Asn1135Ile)
c.2362A>T (n.2362A>T)
c.184A>T
c.3392A>T (p.Asn1131Ile)
n.3671A>T
11g.9832343T>CCA379645694SBF2c.2237A>G (p.Asn746Ser)
c.3533A>G (p.Asn1178Ser)
c.3419A>G (p.Asn1140Ser)
c.3140A>G (p.Asn1047Ser)
c.3395A>G (p.Asn1132Ser)
n.704A>G
c.2427A>G (n.2427A>G)
c.3527A>G (p.Asn1176Ser)
c.2332A>G (n.2332A>G)
c.3404A>G (p.Asn1135Ser)
c.2362A>G (n.2362A>G)
c.184A>G
c.3392A>G (p.Asn1131Ser)
n.3671A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.9832343T>GCA379645695SBF2c.2237A>C (p.Asn746Thr)
c.3533A>C (p.Asn1178Thr)
c.3419A>C (p.Asn1140Thr)
c.3140A>C (p.Asn1047Thr)
c.3395A>C (p.Asn1132Thr)
n.704A>C
c.2427A>C (n.2427A>C)
c.3527A>C (p.Asn1176Thr)
c.2332A>C (n.2332A>C)
c.3404A>C (p.Asn1135Thr)
c.2362A>C (n.2362A>C)
c.184A>C
c.3392A>C (p.Asn1131Thr)
n.3671A>C
11g.9832343T=CA1951790315SBF2c.2237A= (p.Asn746=)
c.3533A= (p.Asn1178=)
c.3419A= (p.Asn1140=)
c.3140A= (p.Asn1047=)
c.3395A= (p.Asn1132=)
n.704A=
c.2427A= (n.2427A=)
c.3527A= (p.Asn1176=)
c.2332A= (n.2332A=)
c.3404A= (p.Asn1135=)
c.2362A= (n.2362A=)
c.184A=
c.3392A= (p.Asn1131=)
n.3671A=
11g.9832344T>ACA379645696SBF2c.2236A>T (p.Asn746Tyr)
c.3532A>T (p.Asn1178Tyr)
c.3418A>T (p.Asn1140Tyr)
c.3139A>T (p.Asn1047Tyr)
c.3394A>T (p.Asn1132Tyr)
n.703A>T
c.2426A>T (n.2426A>T)
c.3526A>T (p.Asn1176Tyr)
c.2331A>T (n.2331A>T)
c.3403A>T (p.Asn1135Tyr)
c.2361A>T (n.2361A>T)
c.183A>T
c.3391A>T (p.Asn1131Tyr)
n.3670A>T
11g.9832344T>CCA379645697SBF2c.2236A>G (p.Asn746Asp)
c.3532A>G (p.Asn1178Asp)
c.3418A>G (p.Asn1140Asp)
c.3139A>G (p.Asn1047Asp)
c.3394A>G (p.Asn1132Asp)
n.703A>G
c.2426A>G (n.2426A>G)
c.3526A>G (p.Asn1176Asp)
c.2331A>G (n.2331A>G)
c.3403A>G (p.Asn1135Asp)
c.2361A>G (n.2361A>G)
c.183A>G
c.3391A>G (p.Asn1131Asp)
n.3670A>G
11g.9832344T>GCA379645698SBF2c.2236A>C (p.Asn746His)
c.3532A>C (p.Asn1178His)
c.3418A>C (p.Asn1140His)
c.3139A>C (p.Asn1047His)
c.3394A>C (p.Asn1132His)
n.703A>C
c.2426A>C (n.2426A>C)
c.3526A>C (p.Asn1176His)
c.2331A>C (n.2331A>C)
c.3403A>C (p.Asn1135His)
c.2361A>C (n.2361A>C)
c.183A>C
c.3391A>C (p.Asn1131His)
n.3670A>C
11g.9832345G>ACA473070793SBF2c.2235C>T (p.His745=)
c.3531C>T (p.His1177=)
c.3417C>T (p.His1139=)
c.3138C>T (p.His1046=)
c.3393C>T (p.His1131=)
n.702C>T
c.2425C>T (n.2425C>T)
c.3525C>T (p.His1175=)
c.2330C>T (n.2330C>T)
c.3402C>T (p.His1134=)
c.2360C>T (n.2360C>T)
c.182C>T
c.3390C>T (p.His1130=)
n.3669C>T
11g.9832345G>CCA379645700SBF2c.2235C>G (p.His745Gln)
c.3531C>G (p.His1177Gln)
c.3417C>G (p.His1139Gln)
c.3138C>G (p.His1046Gln)
c.3393C>G (p.His1131Gln)
n.702C>G
c.2425C>G (n.2425C>G)
c.3525C>G (p.His1175Gln)
c.2330C>G (n.2330C>G)
c.3402C>G (p.His1134Gln)
c.2360C>G (n.2360C>G)
c.182C>G
c.3390C>G (p.His1130Gln)
n.3669C>G
11g.9832345G>TCA379645699SBF2c.2235C>A (p.His745Gln)
c.3531C>A (p.His1177Gln)
c.3417C>A (p.His1139Gln)
c.3138C>A (p.His1046Gln)
c.3393C>A (p.His1131Gln)
n.702C>A
c.2425C>A (n.2425C>A)
c.3525C>A (p.His1175Gln)
c.2330C>A (n.2330C>A)
c.3402C>A (p.His1134Gln)
c.2360C>A (n.2360C>A)
c.182C>A
c.3390C>A (p.His1130Gln)
n.3669C>A
 gnomAD v4
11g.9832346T>ACA379645701SBF2c.2234A>T (p.His745Leu)
c.3530A>T (p.His1177Leu)
c.3416A>T (p.His1139Leu)
c.3137A>T (p.His1046Leu)
c.3392A>T (p.His1131Leu)
n.701A>T
c.2424A>T (n.2424A>T)
c.3524A>T (p.His1175Leu)
c.2329A>T (n.2329A>T)
c.3401A>T (p.His1134Leu)
c.2359A>T (n.2359A>T)
c.181A>T
c.3389A>T (p.His1130Leu)
n.3668A>T
11g.9832346T>CCA379645703SBF2c.2234A>G (p.His745Arg)
c.3530A>G (p.His1177Arg)
c.3416A>G (p.His1139Arg)
c.3137A>G (p.His1046Arg)
c.3392A>G (p.His1131Arg)
n.701A>G
c.2424A>G (n.2424A>G)
c.3524A>G (p.His1175Arg)
c.2329A>G (n.2329A>G)
c.3401A>G (p.His1134Arg)
c.2359A>G (n.2359A>G)
c.181A>G
c.3389A>G (p.His1130Arg)
n.3668A>G
11g.9832346T>GCA379645702SBF2c.2234A>C (p.His745Pro)
c.3530A>C (p.His1177Pro)
c.3416A>C (p.His1139Pro)
c.3137A>C (p.His1046Pro)
c.3392A>C (p.His1131Pro)
n.701A>C
c.2424A>C (n.2424A>C)
c.3524A>C (p.His1175Pro)
c.2329A>C (n.2329A>C)
c.3401A>C (p.His1134Pro)
c.2359A>C (n.2359A>C)
c.181A>C
c.3389A>C (p.His1130Pro)
n.3668A>C
11g.9832347G>ACA379645704SBF2c.2233C>T (p.His745Tyr)
c.3529C>T (p.His1177Tyr)
c.3415C>T (p.His1139Tyr)
c.3136C>T (p.His1046Tyr)
c.3391C>T (p.His1131Tyr)
n.700C>T
c.2423C>T (n.2423C>T)
c.3523C>T (p.His1175Tyr)
c.2328C>T (n.2328C>T)
c.3400C>T (p.His1134Tyr)
c.2358C>T (n.2358C>T)
c.180C>T
c.3388C>T (p.His1130Tyr)
n.3667C>T
11g.9832347G>CCA379645706SBF2c.2233C>G (p.His745Asp)
c.3529C>G (p.His1177Asp)
c.3415C>G (p.His1139Asp)
c.3136C>G (p.His1046Asp)
c.3391C>G (p.His1131Asp)
n.700C>G
c.2423C>G (n.2423C>G)
c.3523C>G (p.His1175Asp)
c.2328C>G (n.2328C>G)
c.3400C>G (p.His1134Asp)
c.2358C>G (n.2358C>G)
c.180C>G
c.3388C>G (p.His1130Asp)
n.3667C>G
11g.9832347G>TCA379645705SBF2c.2233C>A (p.His745Asn)
c.3529C>A (p.His1177Asn)
c.3415C>A (p.His1139Asn)
c.3136C>A (p.His1046Asn)
c.3391C>A (p.His1131Asn)
n.700C>A
c.2423C>A (n.2423C>A)
c.3523C>A (p.His1175Asn)
c.2328C>A (n.2328C>A)
c.3400C>A (p.His1134Asn)
c.2358C>A (n.2358C>A)
c.180C>A
c.3388C>A (p.His1130Asn)
n.3667C>A
11g.9832348T>ACA473070798SBF2c.2232A>T (p.Arg744=)
c.3528A>T (p.Arg1176=)
c.3414A>T (p.Arg1138=)
c.3135A>T (p.Arg1045=)
c.3390A>T (p.Arg1130=)
n.699A>T
c.2422A>T (n.2422A>T)
c.3522A>T (p.Arg1174=)
c.2327A>T (n.2327A>T)
c.3399A>T (p.Arg1133=)
c.2357A>T (n.2357A>T)
c.179A>T
c.3387A>T (p.Arg1129=)
n.3666A>T
 dbSNP gnomAD v2 gnomAD v4
11g.9832348T>CCA473070797SBF2c.2232A>G (p.Arg744=)
c.3528A>G (p.Arg1176=)
c.3414A>G (p.Arg1138=)
c.3135A>G (p.Arg1045=)
c.3390A>G (p.Arg1130=)
n.699A>G
c.2422A>G (n.2422A>G)
c.3522A>G (p.Arg1174=)
c.2327A>G (n.2327A>G)
c.3399A>G (p.Arg1133=)
c.2357A>G (n.2357A>G)
c.179A>G
c.3387A>G (p.Arg1129=)
n.3666A>G
11g.9832348T>GCA473070796SBF2c.2232A>C (p.Arg744=)
c.3528A>C (p.Arg1176=)
c.3414A>C (p.Arg1138=)
c.3135A>C (p.Arg1045=)
c.3390A>C (p.Arg1130=)
n.699A>C
c.2422A>C (n.2422A>C)
c.3522A>C (p.Arg1174=)
c.2327A>C (n.2327A>C)
c.3399A>C (p.Arg1133=)
c.2357A>C (n.2357A>C)
c.179A>C
c.3387A>C (p.Arg1129=)
n.3666A>C
11g.9832348T=CA1951790316SBF2c.2232A= (p.Arg744=)
c.3528A= (p.Arg1176=)
c.3414A= (p.Arg1138=)
c.3135A= (p.Arg1045=)
c.3390A= (p.Arg1130=)
n.699A=
c.2422A= (n.2422A=)
c.3522A= (p.Arg1174=)
c.2327A= (n.2327A=)
c.3399A= (p.Arg1133=)
c.2357A= (n.2357A=)
c.179A=
c.3387A= (p.Arg1129=)
n.3666A=
11g.9832349C>ACA379645707SBF2c.2231G>T (p.Arg744Leu)
c.3527G>T (p.Arg1176Leu)
c.3413G>T (p.Arg1138Leu)
c.3134G>T (p.Arg1045Leu)
c.3389G>T (p.Arg1130Leu)
n.698G>T
c.2421G>T (n.2421G>T)
c.3521G>T (p.Arg1174Leu)
c.2326G>T (n.2326G>T)
c.3398G>T (p.Arg1133Leu)
c.2356G>T (n.2356G>T)
c.178G>T
c.3386G>T (p.Arg1129Leu)
n.3665G>T
11g.9832349C=CA1951790320SBF2c.2231G= (p.Arg744=)
c.3527G= (p.Arg1176=)
c.3413G= (p.Arg1138=)
c.3134G= (p.Arg1045=)
c.3389G= (p.Arg1130=)
n.698G=
c.2421G= (n.2421G=)
c.3521G= (p.Arg1174=)
c.2326G= (n.2326G=)
c.3398G= (p.Arg1133=)
c.2356G= (n.2356G=)
c.178G=
c.3386G= (p.Arg1129=)
n.3665G=
11g.9832349C>GCA379645710SBF2c.2231G>C (p.Arg744Pro)
c.3527G>C (p.Arg1176Pro)
c.3413G>C (p.Arg1138Pro)
c.3134G>C (p.Arg1045Pro)
c.3389G>C (p.Arg1130Pro)
n.698G>C
c.2421G>C (n.2421G>C)
c.3521G>C (p.Arg1174Pro)
c.2326G>C (n.2326G>C)
c.3398G>C (p.Arg1133Pro)
c.2356G>C (n.2356G>C)
c.178G>C
c.3386G>C (p.Arg1129Pro)
n.3665G>C
11g.9832349C>TCA5881239SBF2c.2231G>A (p.Arg744Gln)
c.3527G>A (p.Arg1176Gln)
c.3413G>A (p.Arg1138Gln)
c.3134G>A (p.Arg1045Gln)
c.3389G>A (p.Arg1130Gln)
n.698G>A
c.2421G>A (n.2421G>A)
c.3521G>A (p.Arg1174Gln)
c.2326G>A (n.2326G>A)
c.3398G>A (p.Arg1133Gln)
c.2356G>A (n.2356G>A)
c.178G>A
c.3386G>A (p.Arg1129Gln)
n.3665G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832350G>ACA5881240SBF2c.2230C>T (p.Arg744Ter)
c.3526C>T (p.Arg1176Ter)
c.3412C>T (p.Arg1138Ter)
c.3133C>T (p.Arg1045Ter)
c.3388C>T (p.Arg1130Ter)
n.697C>T
c.2420C>T (n.2420C>T)
c.3520C>T (p.Arg1174Ter)
c.2325C>T (n.2325C>T)
c.3397C>T (p.Arg1133Ter)
c.2355C>T (n.2355C>T)
c.177C>T
c.3385C>T (p.Arg1129Ter)
n.3664C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832350G>CCA379645711SBF2c.2230C>G (p.Arg744Gly)
c.3526C>G (p.Arg1176Gly)
c.3412C>G (p.Arg1138Gly)
c.3133C>G (p.Arg1045Gly)
c.3388C>G (p.Arg1130Gly)
n.697C>G
c.2420C>G (n.2420C>G)
c.3520C>G (p.Arg1174Gly)
c.2325C>G (n.2325C>G)
c.3397C>G (p.Arg1133Gly)
c.2355C>G (n.2355C>G)
c.177C>G
c.3385C>G (p.Arg1129Gly)
n.3664C>G
11g.9832350G=CA1951790325SBF2c.2230C= (p.Arg744=)
c.3526C= (p.Arg1176=)
c.3412C= (p.Arg1138=)
c.3133C= (p.Arg1045=)
c.3388C= (p.Arg1130=)
n.697C=
c.2420C= (n.2420C=)
c.3520C= (p.Arg1174=)
c.2325C= (n.2325C=)
c.3397C= (p.Arg1133=)
c.2355C= (n.2355C=)
c.177C=
c.3385C= (p.Arg1129=)
n.3664C=
11g.9832350G>TCA473070803SBF2c.2230C>A (p.Arg744=)
c.3526C>A (p.Arg1176=)
c.3412C>A (p.Arg1138=)
c.3133C>A (p.Arg1045=)
c.3388C>A (p.Arg1130=)
n.697C>A
c.2420C>A (n.2420C>A)
c.3520C>A (p.Arg1174=)
c.2325C>A (n.2325C>A)
c.3397C>A (p.Arg1133=)
c.2355C>A (n.2355C>A)
c.177C>A
c.3385C>A (p.Arg1129=)
n.3664C>A
11g.9832351A>CCA379645712SBF2c.2229T>G (p.Tyr743Ter)
c.3525T>G (p.Tyr1175Ter)
c.3411T>G (p.Tyr1137Ter)
c.3132T>G (p.Tyr1044Ter)
c.3387T>G (p.Tyr1129Ter)
n.696T>G
c.2419T>G (n.2419T>G)
c.3519T>G (p.Tyr1173Ter)
c.2324T>G (n.2324T>G)
c.3396T>G (p.Tyr1132Ter)
c.2354T>G (n.2354T>G)
c.176T>G
c.3384T>G (p.Tyr1128Ter)
n.3663T>G
11g.9832351A>GCA473070806SBF2c.2229T>C (p.Tyr743=)
c.3525T>C (p.Tyr1175=)
c.3411T>C (p.Tyr1137=)
c.3132T>C (p.Tyr1044=)
c.3387T>C (p.Tyr1129=)
n.696T>C
c.2419T>C (n.2419T>C)
c.3519T>C (p.Tyr1173=)
c.2324T>C (n.2324T>C)
c.3396T>C (p.Tyr1132=)
c.2354T>C (n.2354T>C)
c.176T>C
c.3384T>C (p.Tyr1128=)
n.3663T>C
11g.9832351A>TCA379645713SBF2c.2229T>A (p.Tyr743Ter)
c.3525T>A (p.Tyr1175Ter)
c.3411T>A (p.Tyr1137Ter)
c.3132T>A (p.Tyr1044Ter)
c.3387T>A (p.Tyr1129Ter)
n.696T>A
c.2419T>A (n.2419T>A)
c.3519T>A (p.Tyr1173Ter)
c.2324T>A (n.2324T>A)
c.3396T>A (p.Tyr1132Ter)
c.2354T>A (n.2354T>A)
c.176T>A
c.3384T>A (p.Tyr1128Ter)
n.3663T>A
 COSMIC
11g.9832352T>ACA379645714SBF2c.2228A>T (p.Tyr743Phe)
c.3524A>T (p.Tyr1175Phe)
c.3410A>T (p.Tyr1137Phe)
c.3131A>T (p.Tyr1044Phe)
c.3386A>T (p.Tyr1129Phe)
n.695A>T
c.2418A>T (n.2418A>T)
c.3518A>T (p.Tyr1173Phe)
c.2323A>T (n.2323A>T)
c.3395A>T (p.Tyr1132Phe)
c.2353A>T (n.2353A>T)
c.175A>T
c.3383A>T (p.Tyr1128Phe)
n.3662A>T
11g.9832352T>CCA5881241SBF2c.2228A>G (p.Tyr743Cys)
c.3524A>G (p.Tyr1175Cys)
c.3410A>G (p.Tyr1137Cys)
c.3131A>G (p.Tyr1044Cys)
c.3386A>G (p.Tyr1129Cys)
n.695A>G
c.2418A>G (n.2418A>G)
c.3518A>G (p.Tyr1173Cys)
c.2323A>G (n.2323A>G)
c.3395A>G (p.Tyr1132Cys)
c.2353A>G (n.2353A>G)
c.175A>G
c.3383A>G (p.Tyr1128Cys)
n.3662A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.9832352T>GCA379645715SBF2c.2228A>C (p.Tyr743Ser)
c.3524A>C (p.Tyr1175Ser)
c.3410A>C (p.Tyr1137Ser)
c.3131A>C (p.Tyr1044Ser)
c.3386A>C (p.Tyr1129Ser)
n.695A>C
c.2418A>C (n.2418A>C)
c.3518A>C (p.Tyr1173Ser)
c.2323A>C (n.2323A>C)
c.3395A>C (p.Tyr1132Ser)
c.2353A>C (n.2353A>C)
c.175A>C
c.3383A>C (p.Tyr1128Ser)
n.3662A>C
11g.9832352T=CA1951790331SBF2c.2228A= (p.Tyr743=)
c.3524A= (p.Tyr1175=)
c.3410A= (p.Tyr1137=)
c.3131A= (p.Tyr1044=)
c.3386A= (p.Tyr1129=)
n.695A=
c.2418A= (n.2418A=)
c.3518A= (p.Tyr1173=)
c.2323A= (n.2323A=)
c.3395A= (p.Tyr1132=)
c.2353A= (n.2353A=)
c.175A=
c.3383A= (p.Tyr1128=)
n.3662A=
11g.9832353A>CCA379645716SBF2c.2227T>G (p.Tyr743Asp)
c.3523T>G (p.Tyr1175Asp)
c.3409T>G (p.Tyr1137Asp)
c.3130T>G (p.Tyr1044Asp)
c.3385T>G (p.Tyr1129Asp)
n.694T>G
c.2417T>G (n.2417T>G)
c.3517T>G (p.Tyr1173Asp)
c.2322T>G (n.2322T>G)
c.3394T>G (p.Tyr1132Asp)
c.2352T>G (n.2352T>G)
c.174T>G
c.3382T>G (p.Tyr1128Asp)
n.3661T>G
11g.9832353A>GCA379645717SBF2c.2227T>C (p.Tyr743His)
c.3523T>C (p.Tyr1175His)
c.3409T>C (p.Tyr1137His)
c.3130T>C (p.Tyr1044His)
c.3385T>C (p.Tyr1129His)
n.694T>C
c.2417T>C (n.2417T>C)
c.3517T>C (p.Tyr1173His)
c.2322T>C (n.2322T>C)
c.3394T>C (p.Tyr1132His)
c.2352T>C (n.2352T>C)
c.174T>C
c.3382T>C (p.Tyr1128His)
n.3661T>C
11g.9832353A>TCA379645718SBF2c.2227T>A (p.Tyr743Asn)
c.3523T>A (p.Tyr1175Asn)
c.3409T>A (p.Tyr1137Asn)
c.3130T>A (p.Tyr1044Asn)
c.3385T>A (p.Tyr1129Asn)
n.694T>A
c.2417T>A (n.2417T>A)
c.3517T>A (p.Tyr1173Asn)
c.2322T>A (n.2322T>A)
c.3394T>A (p.Tyr1132Asn)
c.2352T>A (n.2352T>A)
c.174T>A
c.3382T>A (p.Tyr1128Asn)
n.3661T>A
11g.9832354G>ACA5881242SBF2c.2226C>T (p.Cys742=)
c.3522C>T (p.Cys1174=)
c.3408C>T (p.Cys1136=)
c.3129C>T (p.Cys1043=)
c.3384C>T (p.Cys1128=)
n.693C>T
c.2416C>T (n.2416C>T)
c.3516C>T (p.Cys1172=)
c.2321C>T (n.2321C>T)
c.3393C>T (p.Cys1131=)
c.2351C>T (n.2351C>T)
c.173C>T
c.3381C>T (p.Cys1127=)
n.3660C>T
 ClinVar dbSNP ExAC gnomAD v2
11g.9832354G>CCA379645719SBF2c.2226C>G (p.Cys742Trp)
c.3522C>G (p.Cys1174Trp)
c.3408C>G (p.Cys1136Trp)
c.3129C>G (p.Cys1043Trp)
c.3384C>G (p.Cys1128Trp)
n.693C>G
c.2416C>G (n.2416C>G)
c.3516C>G (p.Cys1172Trp)
c.2321C>G (n.2321C>G)
c.3393C>G (p.Cys1131Trp)
c.2351C>G (n.2351C>G)
c.173C>G
c.3381C>G (p.Cys1127Trp)
n.3660C>G
11g.9832354G=CA1951790334SBF2c.2226C= (p.Cys742=)
c.3522C= (p.Cys1174=)
c.3408C= (p.Cys1136=)
c.3129C= (p.Cys1043=)
c.3384C= (p.Cys1128=)
n.693C=
c.2416C= (n.2416C=)
c.3516C= (p.Cys1172=)
c.2321C= (n.2321C=)
c.3393C= (p.Cys1131=)
c.2351C= (n.2351C=)
c.173C=
c.3381C= (p.Cys1127=)
n.3660C=
11g.9832354G>TCA379645720SBF2c.2226C>A (p.Cys742Ter)
c.3522C>A (p.Cys1174Ter)
c.3408C>A (p.Cys1136Ter)
c.3129C>A (p.Cys1043Ter)
c.3384C>A (p.Cys1128Ter)
n.693C>A
c.2416C>A (n.2416C>A)
c.3516C>A (p.Cys1172Ter)
c.2321C>A (n.2321C>A)
c.3393C>A (p.Cys1131Ter)
c.2351C>A (n.2351C>A)
c.173C>A
c.3381C>A (p.Cys1127Ter)
n.3660C>A
11g.9832355C>ACA379645722SBF2c.2225G>T (p.Cys742Phe)
c.3521G>T (p.Cys1174Phe)
c.3407G>T (p.Cys1136Phe)
c.3128G>T (p.Cys1043Phe)
c.3383G>T (p.Cys1128Phe)
n.692G>T
c.2415G>T (n.2415G>T)
c.3515G>T (p.Cys1172Phe)
c.2320G>T (n.2320G>T)
c.3392G>T (p.Cys1131Phe)
c.2350G>T (n.2350G>T)
c.172G>T
c.3380G>T (p.Cys1127Phe)
n.3659G>T
11g.9832355C=CA1951790337SBF2c.2225G= (p.Cys742=)
c.3521G= (p.Cys1174=)
c.3407G= (p.Cys1136=)
c.3128G= (p.Cys1043=)
c.3383G= (p.Cys1128=)
n.692G=
c.2415G= (n.2415G=)
c.3515G= (p.Cys1172=)
c.2320G= (n.2320G=)
c.3392G= (p.Cys1131=)
c.2350G= (n.2350G=)
c.172G=
c.3380G= (p.Cys1127=)
n.3659G=
11g.9832355C>GCA379645721SBF2c.2225G>C (p.Cys742Ser)
c.3521G>C (p.Cys1174Ser)
c.3407G>C (p.Cys1136Ser)
c.3128G>C (p.Cys1043Ser)
c.3383G>C (p.Cys1128Ser)
n.692G>C
c.2415G>C (n.2415G>C)
c.3515G>C (p.Cys1172Ser)
c.2320G>C (n.2320G>C)
c.3392G>C (p.Cys1131Ser)
c.2350G>C (n.2350G>C)
c.172G>C
c.3380G>C (p.Cys1127Ser)
n.3659G>C
 dbSNP
11g.9832355C>TCA217634260SBF2c.2225G>A (p.Cys742Tyr)
c.3521G>A (p.Cys1174Tyr)
c.3407G>A (p.Cys1136Tyr)
c.3128G>A (p.Cys1043Tyr)
c.3383G>A (p.Cys1128Tyr)
n.692G>A
c.2415G>A (n.2415G>A)
c.3515G>A (p.Cys1172Tyr)
c.2320G>A (n.2320G>A)
c.3392G>A (p.Cys1131Tyr)
c.2350G>A (n.2350G>A)
c.172G>A
c.3380G>A (p.Cys1127Tyr)
n.3659G>A
 dbSNP gnomAD v4
11g.9832356A>CCA379645723SBF2c.2224T>G (p.Cys742Gly)
c.3520T>G (p.Cys1174Gly)
c.3406T>G (p.Cys1136Gly)
c.3127T>G (p.Cys1043Gly)
c.3382T>G (p.Cys1128Gly)
n.691T>G
c.2414T>G (n.2414T>G)
c.3514T>G (p.Cys1172Gly)
c.2319T>G (n.2319T>G)
c.3391T>G (p.Cys1131Gly)
c.2349T>G (n.2349T>G)
c.171T>G
c.3379T>G (p.Cys1127Gly)
n.3658T>G
11g.9832356A>GCA379645724SBF2c.2224T>C (p.Cys742Arg)
c.3520T>C (p.Cys1174Arg)
c.3406T>C (p.Cys1136Arg)
c.3127T>C (p.Cys1043Arg)
c.3382T>C (p.Cys1128Arg)
n.691T>C
c.2414T>C (n.2414T>C)
c.3514T>C (p.Cys1172Arg)
c.2319T>C (n.2319T>C)
c.3391T>C (p.Cys1131Arg)
c.2349T>C (n.2349T>C)
c.171T>C
c.3379T>C (p.Cys1127Arg)
n.3658T>C
11g.9832356A>TCA379645725SBF2c.2224T>A (p.Cys742Ser)
c.3520T>A (p.Cys1174Ser)
c.3406T>A (p.Cys1136Ser)
c.3127T>A (p.Cys1043Ser)
c.3382T>A (p.Cys1128Ser)
n.691T>A
c.2414T>A (n.2414T>A)
c.3514T>A (p.Cys1172Ser)
c.2319T>A (n.2319T>A)
c.3391T>A (p.Cys1131Ser)
c.2349T>A (n.2349T>A)
c.171T>A
c.3379T>A (p.Cys1127Ser)
n.3658T>A
11g.9832357G>ACA473070822SBF2c.2223C>T (p.Arg741=)
c.3519C>T (p.Arg1173=)
c.3405C>T (p.Arg1135=)
c.3126C>T (p.Arg1042=)
c.3381C>T (p.Arg1127=)
n.690C>T
c.2413C>T (n.2413C>T)
c.3513C>T (p.Arg1171=)
c.2318C>T (n.2318C>T)
c.3390C>T (p.Arg1130=)
c.2348C>T (n.2348C>T)
c.170C>T
c.3378C>T (p.Arg1126=)
n.3657C>T
11g.9832357G>CCA473070824SBF2c.2223C>G (p.Arg741=)
c.3519C>G (p.Arg1173=)
c.3405C>G (p.Arg1135=)
c.3126C>G (p.Arg1042=)
c.3381C>G (p.Arg1127=)
n.690C>G
c.2413C>G (n.2413C>G)
c.3513C>G (p.Arg1171=)
c.2318C>G (n.2318C>G)
c.3390C>G (p.Arg1130=)
c.2348C>G (n.2348C>G)
c.170C>G
c.3378C>G (p.Arg1126=)
n.3657C>G
11g.9832357G=CA1951790339SBF2c.2223C= (p.Arg741=)
c.3519C= (p.Arg1173=)
c.3405C= (p.Arg1135=)
c.3126C= (p.Arg1042=)
c.3381C= (p.Arg1127=)
n.690C=
c.2413C= (n.2413C=)
c.3513C= (p.Arg1171=)
c.2318C= (n.2318C=)
c.3390C= (p.Arg1130=)
c.2348C= (n.2348C=)
c.170C=
c.3378C= (p.Arg1126=)
n.3657C=
11g.9832357G>TCA5881243SBF2c.2223C>A (p.Arg741=)
c.3519C>A (p.Arg1173=)
c.3405C>A (p.Arg1135=)
c.3126C>A (p.Arg1042=)
c.3381C>A (p.Arg1127=)
n.690C>A
c.2413C>A (n.2413C>A)
c.3513C>A (p.Arg1171=)
c.2318C>A (n.2318C>A)
c.3390C>A (p.Arg1130=)
c.2348C>A (n.2348C>A)
c.170C>A
c.3378C>A (p.Arg1126=)
n.3657C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832358C>ACA379645726SBF2c.2222G>T (p.Arg741Leu)
c.3518G>T (p.Arg1173Leu)
c.3404G>T (p.Arg1135Leu)
c.3125G>T (p.Arg1042Leu)
c.3380G>T (p.Arg1127Leu)
n.689G>T
c.2412G>T (n.2412G>T)
c.3512G>T (p.Arg1171Leu)
c.2317G>T (n.2317G>T)
c.3389G>T (p.Arg1130Leu)
c.2347G>T (n.2347G>T)
c.169G>T
c.3377G>T (p.Arg1126Leu)
n.3656G>T
 dbSNP gnomAD v3 gnomAD v4
11g.9832358C=CA1951790345SBF2c.2222G= (p.Arg741=)
c.3518G= (p.Arg1173=)
c.3404G= (p.Arg1135=)
c.3125G= (p.Arg1042=)
c.3380G= (p.Arg1127=)
n.689G=
c.2412G= (n.2412G=)
c.3512G= (p.Arg1171=)
c.2317G= (n.2317G=)
c.3389G= (p.Arg1130=)
c.2347G= (n.2347G=)
c.169G=
c.3377G= (p.Arg1126=)
n.3656G=
11g.9832358C>GCA379645727SBF2c.2222G>C (p.Arg741Pro)
c.3518G>C (p.Arg1173Pro)
c.3404G>C (p.Arg1135Pro)
c.3125G>C (p.Arg1042Pro)
c.3380G>C (p.Arg1127Pro)
n.689G>C
c.2412G>C (n.2412G>C)
c.3512G>C (p.Arg1171Pro)
c.2317G>C (n.2317G>C)
c.3389G>C (p.Arg1130Pro)
c.2347G>C (n.2347G>C)
c.169G>C
c.3377G>C (p.Arg1126Pro)
n.3656G>C
11g.9832358C>TCA5881244SBF2c.2222G>A (p.Arg741His)
c.3518G>A (p.Arg1173His)
c.3404G>A (p.Arg1135His)
c.3125G>A (p.Arg1042His)
c.3380G>A (p.Arg1127His)
n.689G>A
c.2412G>A (n.2412G>A)
c.3512G>A (p.Arg1171His)
c.2317G>A (n.2317G>A)
c.3389G>A (p.Arg1130His)
c.2347G>A (n.2347G>A)
c.169G>A
c.3377G>A (p.Arg1126His)
n.3656G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832359G>ACA5881245SBF2c.2221C>T (p.Arg741Cys)
c.3517C>T (p.Arg1173Cys)
c.3403C>T (p.Arg1135Cys)
c.3124C>T (p.Arg1042Cys)
c.3379C>T (p.Arg1127Cys)
n.688C>T
c.2411C>T (n.2411C>T)
c.3511C>T (p.Arg1171Cys)
c.2316C>T (n.2316C>T)
c.3388C>T (p.Arg1130Cys)
c.2346C>T (n.2346C>T)
c.168C>T
c.3376C>T (p.Arg1126Cys)
n.3655C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.9832359G>CCA379645728SBF2c.2221C>G (p.Arg741Gly)
c.3517C>G (p.Arg1173Gly)
c.3403C>G (p.Arg1135Gly)
c.3124C>G (p.Arg1042Gly)
c.3379C>G (p.Arg1127Gly)
n.688C>G
c.2411C>G (n.2411C>G)
c.3511C>G (p.Arg1171Gly)
c.2316C>G (n.2316C>G)
c.3388C>G (p.Arg1130Gly)
c.2346C>G (n.2346C>G)
c.168C>G
c.3376C>G (p.Arg1126Gly)
n.3655C>G
11g.9832359G=CA1951790353SBF2c.2221C= (p.Arg741=)
c.3517C= (p.Arg1173=)
c.3403C= (p.Arg1135=)
c.3124C= (p.Arg1042=)
c.3379C= (p.Arg1127=)
n.688C=
c.2411C= (n.2411C=)
c.3511C= (p.Arg1171=)
c.2316C= (n.2316C=)
c.3388C= (p.Arg1130=)
c.2346C= (n.2346C=)
c.168C=
c.3376C= (p.Arg1126=)
n.3655C=
11g.9832359G>TCA379645729SBF2c.2221C>A (p.Arg741Ser)
c.3517C>A (p.Arg1173Ser)
c.3403C>A (p.Arg1135Ser)
c.3124C>A (p.Arg1042Ser)
c.3379C>A (p.Arg1127Ser)
n.688C>A
c.2411C>A (n.2411C>A)
c.3511C>A (p.Arg1171Ser)
c.2316C>A (n.2316C>A)
c.3388C>A (p.Arg1130Ser)
c.2346C>A (n.2346C>A)
c.168C>A
c.3376C>A (p.Arg1126Ser)
n.3655C>A
11g.9832360A=CA1951790356SBF2c.2220T= (p.Ala740=)
c.3516T= (p.Ala1172=)
c.3402T= (p.Ala1134=)
c.3123T= (p.Ala1041=)
c.3378T= (p.Ala1126=)
n.687T=
c.2410T= (n.2410T=)
c.3510T= (p.Ala1170=)
c.2315T= (n.2315T=)
c.3387T= (p.Ala1129=)
c.2345T= (n.2345T=)
c.167T=
c.3375T= (p.Ala1125=)
n.3654T=
11g.9832360A>CCA473070836SBF2c.2220T>G (p.Ala740=)
c.3516T>G (p.Ala1172=)
c.3402T>G (p.Ala1134=)
c.3123T>G (p.Ala1041=)
c.3378T>G (p.Ala1126=)
n.687T>G
c.2410T>G (n.2410T>G)
c.3510T>G (p.Ala1170=)
c.2315T>G (n.2315T>G)
c.3387T>G (p.Ala1129=)
c.2345T>G (n.2345T>G)
c.167T>G
c.3375T>G (p.Ala1125=)
n.3654T>G
11g.9832360A>GCA473070838SBF2c.2220T>C (p.Ala740=)
c.3516T>C (p.Ala1172=)
c.3402T>C (p.Ala1134=)
c.3123T>C (p.Ala1041=)
c.3378T>C (p.Ala1126=)
n.687T>C
c.2410T>C (n.2410T>C)
c.3510T>C (p.Ala1170=)
c.2315T>C (n.2315T>C)
c.3387T>C (p.Ala1129=)
c.2345T>C (n.2345T>C)
c.167T>C
c.3375T>C (p.Ala1125=)
n.3654T>C
11g.9832360A>TCA5881246SBF2c.2220T>A (p.Ala740=)
c.3516T>A (p.Ala1172=)
c.3402T>A (p.Ala1134=)
c.3123T>A (p.Ala1041=)
c.3378T>A (p.Ala1126=)
n.687T>A
c.2410T>A (n.2410T>A)
c.3510T>A (p.Ala1170=)
c.2315T>A (n.2315T>A)
c.3387T>A (p.Ala1129=)
c.2345T>A (n.2345T>A)
c.167T>A
c.3375T>A (p.Ala1125=)
n.3654T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832361G>ACA379645732SBF2c.2219C>T (p.Ala740Val)
c.3515C>T (p.Ala1172Val)
c.3401C>T (p.Ala1134Val)
c.3122C>T (p.Ala1041Val)
c.3377C>T (p.Ala1126Val)
n.686C>T
c.2409C>T (n.2409C>T)
c.3509C>T (p.Ala1170Val)
c.2314C>T (n.2314C>T)
c.3386C>T (p.Ala1129Val)
c.2344C>T (n.2344C>T)
c.166C>T
c.3374C>T (p.Ala1125Val)
n.3653C>T
 gnomAD v4
11g.9832361G>CCA379645731SBF2c.2219C>G (p.Ala740Gly)
c.3515C>G (p.Ala1172Gly)
c.3401C>G (p.Ala1134Gly)
c.3122C>G (p.Ala1041Gly)
c.3377C>G (p.Ala1126Gly)
n.686C>G
c.2409C>G (n.2409C>G)
c.3509C>G (p.Ala1170Gly)
c.2314C>G (n.2314C>G)
c.3386C>G (p.Ala1129Gly)
c.2344C>G (n.2344C>G)
c.166C>G
c.3374C>G (p.Ala1125Gly)
n.3653C>G
11g.9832361G>TCA379645730SBF2c.2219C>A (p.Ala740Asp)
c.3515C>A (p.Ala1172Asp)
c.3401C>A (p.Ala1134Asp)
c.3122C>A (p.Ala1041Asp)
c.3377C>A (p.Ala1126Asp)
n.686C>A
c.2409C>A (n.2409C>A)
c.3509C>A (p.Ala1170Asp)
c.2314C>A (n.2314C>A)
c.3386C>A (p.Ala1129Asp)
c.2344C>A (n.2344C>A)
c.166C>A
c.3374C>A (p.Ala1125Asp)
n.3653C>A
11g.9832362C>ACA379645733SBF2c.2218G>T (p.Ala740Ser)
c.3514G>T (p.Ala1172Ser)
c.3400G>T (p.Ala1134Ser)
c.3121G>T (p.Ala1041Ser)
c.3376G>T (p.Ala1126Ser)
n.685G>T
c.2408G>T (n.2408G>T)
c.3508G>T (p.Ala1170Ser)
c.2313G>T (n.2313G>T)
c.3385G>T (p.Ala1129Ser)
c.2343G>T (n.2343G>T)
c.165G>T
c.3373G>T (p.Ala1125Ser)
n.3652G>T
11g.9832362C>GCA379645734SBF2c.2218G>C (p.Ala740Pro)
c.3514G>C (p.Ala1172Pro)
c.3400G>C (p.Ala1134Pro)
c.3121G>C (p.Ala1041Pro)
c.3376G>C (p.Ala1126Pro)
n.685G>C
c.2408G>C (n.2408G>C)
c.3508G>C (p.Ala1170Pro)
c.2313G>C (n.2313G>C)
c.3385G>C (p.Ala1129Pro)
c.2343G>C (n.2343G>C)
c.165G>C
c.3373G>C (p.Ala1125Pro)
n.3652G>C
11g.9832362C>TCA379645735SBF2c.2218G>A (p.Ala740Thr)
c.3514G>A (p.Ala1172Thr)
c.3400G>A (p.Ala1134Thr)
c.3121G>A (p.Ala1041Thr)
c.3376G>A (p.Ala1126Thr)
n.685G>A
c.2408G>A (n.2408G>A)
c.3508G>A (p.Ala1170Thr)
c.2313G>A (n.2313G>A)
c.3385G>A (p.Ala1129Thr)
c.2343G>A (n.2343G>A)
c.165G>A
c.3373G>A (p.Ala1125Thr)
n.3652G>A
 COSMIC
11g.9832363T>ACA473070845SBF2c.2217A>T (p.Val739=)
c.3513A>T (p.Val1171=)
c.3399A>T (p.Val1133=)
c.3120A>T (p.Val1040=)
c.3375A>T (p.Val1125=)
n.684A>T
c.2407A>T (n.2407A>T)
c.3507A>T (p.Val1169=)
c.2312A>T (n.2312A>T)
c.3384A>T (p.Val1128=)
c.2342A>T (n.2342A>T)
c.164A>T
c.3372A>T (p.Val1124=)
n.3651A>T
 dbSNP
11g.9832363T>CCA473070847SBF2c.2217A>G (p.Val739=)
c.3513A>G (p.Val1171=)
c.3399A>G (p.Val1133=)
c.3120A>G (p.Val1040=)
c.3375A>G (p.Val1125=)
n.684A>G
c.2407A>G (n.2407A>G)
c.3507A>G (p.Val1169=)
c.2312A>G (n.2312A>G)
c.3384A>G (p.Val1128=)
c.2342A>G (n.2342A>G)
c.164A>G
c.3372A>G (p.Val1124=)
n.3651A>G
 gnomAD v4
11g.9832363T>GCA473070849SBF2c.2217A>C (p.Val739=)
c.3513A>C (p.Val1171=)
c.3399A>C (p.Val1133=)
c.3120A>C (p.Val1040=)
c.3375A>C (p.Val1125=)
n.684A>C
c.2407A>C (n.2407A>C)
c.3507A>C (p.Val1169=)
c.2312A>C (n.2312A>C)
c.3384A>C (p.Val1128=)
c.2342A>C (n.2342A>C)
c.164A>C
c.3372A>C (p.Val1124=)
n.3651A>C
11g.9832363T=CA1951790362SBF2c.2217A= (p.Val739=)
c.3513A= (p.Val1171=)
c.3399A= (p.Val1133=)
c.3120A= (p.Val1040=)
c.3375A= (p.Val1125=)
n.684A=
c.2407A= (n.2407A=)
c.3507A= (p.Val1169=)
c.2312A= (n.2312A=)
c.3384A= (p.Val1128=)
c.2342A= (n.2342A=)
c.164A=
c.3372A= (p.Val1124=)
n.3651A=
11g.9832363_9832366dupCA2695213195SBF2c.2214_2217dup (p.Ala740SerfsTer?)
c.3510_3513dup (p.Ala1172SerfsTer?)
c.3396_3399dup (p.Ala1134SerfsTer?)
c.3117_3120dup (p.Ala1041SerfsTer?)
c.3372_3375dup (p.Ala1126SerfsTer?)
n.681_684dup
c.2404_2407dup (n.2404_2407dup)
c.3504_3507dup (p.Ala1170SerfsTer?)
c.2309_2312dup (n.2309_2312dup)
c.3381_3384dup (p.Ala1129SerfsTer?)
c.2339_2342dup (n.2339_2342dup)
c.161_164dup
c.3369_3372dup (p.Ala1125SerfsTer?)
n.3648_3651dup
11g.9832364A>CCA379645736SBF2c.2216T>G (p.Val739Gly)
c.3512T>G (p.Val1171Gly)
c.3398T>G (p.Val1133Gly)
c.3119T>G (p.Val1040Gly)
c.3374T>G (p.Val1125Gly)
n.683T>G
c.2406T>G (n.2406T>G)
c.3506T>G (p.Val1169Gly)
c.2311T>G (n.2311T>G)
c.3383T>G (p.Val1128Gly)
c.2341T>G (n.2341T>G)
c.163T>G
c.3371T>G (p.Val1124Gly)
n.3650T>G
11g.9832364A>GCA379645737SBF2c.2216T>C (p.Val739Ala)
c.3512T>C (p.Val1171Ala)
c.3398T>C (p.Val1133Ala)
c.3119T>C (p.Val1040Ala)
c.3374T>C (p.Val1125Ala)
n.683T>C
c.2406T>C (n.2406T>C)
c.3506T>C (p.Val1169Ala)
c.2311T>C (n.2311T>C)
c.3383T>C (p.Val1128Ala)
c.2341T>C (n.2341T>C)
c.163T>C
c.3371T>C (p.Val1124Ala)
n.3650T>C
11g.9832364A>TCA379645738SBF2c.2216T>A (p.Val739Glu)
c.3512T>A (p.Val1171Glu)
c.3398T>A (p.Val1133Glu)
c.3119T>A (p.Val1040Glu)
c.3374T>A (p.Val1125Glu)
n.683T>A
c.2406T>A (n.2406T>A)
c.3506T>A (p.Val1169Glu)
c.2311T>A (n.2311T>A)
c.3383T>A (p.Val1128Glu)
c.2341T>A (n.2341T>A)
c.163T>A
c.3371T>A (p.Val1124Glu)
n.3650T>A
11g.9832365C>ACA379645739SBF2c.2215G>T (p.Val739Leu)
c.3511G>T (p.Val1171Leu)
c.3397G>T (p.Val1133Leu)
c.3118G>T (p.Val1040Leu)
c.3373G>T (p.Val1125Leu)
n.682G>T
c.2405G>T (n.2405G>T)
c.3505G>T (p.Val1169Leu)
c.2310G>T (n.2310G>T)
c.3382G>T (p.Val1128Leu)
c.2340G>T (n.2340G>T)
c.162G>T
c.3370G>T (p.Val1124Leu)
n.3649G>T
11g.9832365C>GCA379645740SBF2c.2215G>C (p.Val739Leu)
c.3511G>C (p.Val1171Leu)
c.3397G>C (p.Val1133Leu)
c.3118G>C (p.Val1040Leu)
c.3373G>C (p.Val1125Leu)
n.682G>C
c.2405G>C (n.2405G>C)
c.3505G>C (p.Val1169Leu)
c.2310G>C (n.2310G>C)
c.3382G>C (p.Val1128Leu)
c.2340G>C (n.2340G>C)
c.162G>C
c.3370G>C (p.Val1124Leu)
n.3649G>C
11g.9832365C>TCA379645741SBF2c.2215G>A (p.Val739Ile)
c.3511G>A (p.Val1171Ile)
c.3397G>A (p.Val1133Ile)
c.3118G>A (p.Val1040Ile)
c.3373G>A (p.Val1125Ile)
n.682G>A
c.2405G>A (n.2405G>A)
c.3505G>A (p.Val1169Ile)
c.2310G>A (n.2310G>A)
c.3382G>A (p.Val1128Ile)
c.2340G>A (n.2340G>A)
c.162G>A
c.3370G>A (p.Val1124Ile)
n.3649G>A
11g.9832366T>ACA379645742SBF2c.2214A>T (p.Arg738Ser)
c.3510A>T (p.Arg1170Ser)
c.3396A>T (p.Arg1132Ser)
c.3117A>T (p.Arg1039Ser)
c.3372A>T (p.Arg1124Ser)
n.681A>T
c.2404A>T (n.2404A>T)
c.3504A>T (p.Arg1168Ser)
c.2309A>T (n.2309A>T)
c.3381A>T (p.Arg1127Ser)
c.2339A>T (n.2339A>T)
c.161A>T
c.3369A>T (p.Arg1123Ser)
n.3648A>T
11g.9832366T>CCA473070858SBF2c.2214A>G (p.Arg738=)
c.3510A>G (p.Arg1170=)
c.3396A>G (p.Arg1132=)
c.3117A>G (p.Arg1039=)
c.3372A>G (p.Arg1124=)
n.681A>G
c.2404A>G (n.2404A>G)
c.3504A>G (p.Arg1168=)
c.2309A>G (n.2309A>G)
c.3381A>G (p.Arg1127=)
c.2339A>G (n.2339A>G)
c.161A>G
c.3369A>G (p.Arg1123=)
n.3648A>G
11g.9832366T>GCA379645743SBF2c.2214A>C (p.Arg738Ser)
c.3510A>C (p.Arg1170Ser)
c.3396A>C (p.Arg1132Ser)
c.3117A>C (p.Arg1039Ser)
c.3372A>C (p.Arg1124Ser)
n.681A>C
c.2404A>C (n.2404A>C)
c.3504A>C (p.Arg1168Ser)
c.2309A>C (n.2309A>C)
c.3381A>C (p.Arg1127Ser)
c.2339A>C (n.2339A>C)
c.161A>C
c.3369A>C (p.Arg1123Ser)
n.3648A>C
11g.9832367C>ACA379645746SBF2c.2213G>T (p.Arg738Ile)
c.3509G>T (p.Arg1170Ile)
c.3395G>T (p.Arg1132Ile)
c.3116G>T (p.Arg1039Ile)
c.3371G>T (p.Arg1124Ile)
n.680G>T
c.2403G>T (n.2403G>T)
c.3503G>T (p.Arg1168Ile)
c.2308G>T (n.2308G>T)
c.3380G>T (p.Arg1127Ile)
c.2338G>T (n.2338G>T)
c.160G>T
c.3368G>T (p.Arg1123Ile)
n.3647G>T
11g.9832367C>GCA379645745SBF2c.2213G>C (p.Arg738Thr)
c.3509G>C (p.Arg1170Thr)
c.3395G>C (p.Arg1132Thr)
c.3116G>C (p.Arg1039Thr)
c.3371G>C (p.Arg1124Thr)
n.680G>C
c.2403G>C (n.2403G>C)
c.3503G>C (p.Arg1168Thr)
c.2308G>C (n.2308G>C)
c.3380G>C (p.Arg1127Thr)
c.2338G>C (n.2338G>C)
c.160G>C
c.3368G>C (p.Arg1123Thr)
n.3647G>C
11g.9832367C>TCA379645744SBF2c.2213G>A (p.Arg738Lys)
c.3509G>A (p.Arg1170Lys)
c.3395G>A (p.Arg1132Lys)
c.3116G>A (p.Arg1039Lys)
c.3371G>A (p.Arg1124Lys)
n.680G>A
c.2403G>A (n.2403G>A)
c.3503G>A (p.Arg1168Lys)
c.2308G>A (n.2308G>A)
c.3380G>A (p.Arg1127Lys)
c.2338G>A (n.2338G>A)
c.160G>A
c.3368G>A (p.Arg1123Lys)
n.3647G>A
11g.9832368T>ACA379645747SBF2c.2212A>T (p.Arg738Ter)
c.3508A>T (p.Arg1170Ter)
c.3394A>T (p.Arg1132Ter)
c.3115A>T (p.Arg1039Ter)
c.3370A>T (p.Arg1124Ter)
n.679A>T
c.2402A>T (n.2402A>T)
c.3502A>T (p.Arg1168Ter)
c.2307A>T (n.2307A>T)
c.3379A>T (p.Arg1127Ter)
c.2337A>T (n.2337A>T)
c.159A>T
c.3367A>T (p.Arg1123Ter)
n.3646A>T
11g.9832368T>CCA379645748SBF2c.2212A>G (p.Arg738Gly)
c.3508A>G (p.Arg1170Gly)
c.3394A>G (p.Arg1132Gly)
c.3115A>G (p.Arg1039Gly)
c.3370A>G (p.Arg1124Gly)
n.679A>G
c.2402A>G (n.2402A>G)
c.3502A>G (p.Arg1168Gly)
c.2307A>G (n.2307A>G)
c.3379A>G (p.Arg1127Gly)
c.2337A>G (n.2337A>G)
c.159A>G
c.3367A>G (p.Arg1123Gly)
n.3646A>G
11g.9832368T>GCA5881247SBF2c.2212A>C (p.Arg738=)
c.3508A>C (p.Arg1170=)
c.3394A>C (p.Arg1132=)
c.3115A>C (p.Arg1039=)
c.3370A>C (p.Arg1124=)
n.679A>C
c.2402A>C (n.2402A>C)
c.3502A>C (p.Arg1168=)
c.2307A>C (n.2307A>C)
c.3379A>C (p.Arg1127=)
c.2337A>C (n.2337A>C)
c.159A>C
c.3367A>C (p.Arg1123=)
n.3646A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832368T=CA1951790365SBF2c.2212A= (p.Arg738=)
c.3508A= (p.Arg1170=)
c.3394A= (p.Arg1132=)
c.3115A= (p.Arg1039=)
c.3370A= (p.Arg1124=)
n.679A=
c.2402A= (n.2402A=)
c.3502A= (p.Arg1168=)
c.2307A= (n.2307A=)
c.3379A= (p.Arg1127=)
c.2337A= (n.2337A=)
c.159A=
c.3367A= (p.Arg1123=)
n.3646A=
11g.9832369T>ACA473070865SBF2c.2211A>T (p.Pro737=)
c.3507A>T (p.Pro1169=)
c.3393A>T (p.Pro1131=)
c.3114A>T (p.Pro1038=)
c.3369A>T (p.Pro1123=)
n.678A>T
c.2401A>T (n.2401A>T)
c.3501A>T (p.Pro1167=)
c.2306A>T (n.2306A>T)
c.3378A>T (p.Pro1126=)
c.2336A>T (n.2336A>T)
c.158A>T
c.3366A>T (p.Pro1122=)
n.3645A>T
11g.9832369T>CCA5881248SBF2c.2211A>G (p.Pro737=)
c.3507A>G (p.Pro1169=)
c.3393A>G (p.Pro1131=)
c.3114A>G (p.Pro1038=)
c.3369A>G (p.Pro1123=)
n.678A>G
c.2401A>G (n.2401A>G)
c.3501A>G (p.Pro1167=)
c.2306A>G (n.2306A>G)
c.3378A>G (p.Pro1126=)
c.2336A>G (n.2336A>G)
c.158A>G
c.3366A>G (p.Pro1122=)
n.3645A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832369T>GCA473070868SBF2c.2211A>C (p.Pro737=)
c.3507A>C (p.Pro1169=)
c.3393A>C (p.Pro1131=)
c.3114A>C (p.Pro1038=)
c.3369A>C (p.Pro1123=)
n.678A>C
c.2401A>C (n.2401A>C)
c.3501A>C (p.Pro1167=)
c.2306A>C (n.2306A>C)
c.3378A>C (p.Pro1126=)
c.2336A>C (n.2336A>C)
c.158A>C
c.3366A>C (p.Pro1122=)
n.3645A>C
11g.9832369T=CA1951790368SBF2c.2211A= (p.Pro737=)
c.3507A= (p.Pro1169=)
c.3393A= (p.Pro1131=)
c.3114A= (p.Pro1038=)
c.3369A= (p.Pro1123=)
n.678A=
c.2401A= (n.2401A=)
c.3501A= (p.Pro1167=)
c.2306A= (n.2306A=)
c.3378A= (p.Pro1126=)
c.2336A= (n.2336A=)
c.158A=
c.3366A= (p.Pro1122=)
n.3645A=
11g.9832370G>ACA5881249SBF2c.2210C>T (p.Pro737Leu)
c.3506C>T (p.Pro1169Leu)
c.3392C>T (p.Pro1131Leu)
c.3113C>T (p.Pro1038Leu)
c.3368C>T (p.Pro1123Leu)
n.677C>T
c.2400C>T (n.2400C>T)
c.3500C>T (p.Pro1167Leu)
c.2305C>T (n.2305C>T)
c.3377C>T (p.Pro1126Leu)
c.2335C>T (n.2335C>T)
c.157C>T
c.3365C>T (p.Pro1122Leu)
n.3644C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832370G>CCA379645749SBF2c.2210C>G (p.Pro737Arg)
c.3506C>G (p.Pro1169Arg)
c.3392C>G (p.Pro1131Arg)
c.3113C>G (p.Pro1038Arg)
c.3368C>G (p.Pro1123Arg)
n.677C>G
c.2400C>G (n.2400C>G)
c.3500C>G (p.Pro1167Arg)
c.2305C>G (n.2305C>G)
c.3377C>G (p.Pro1126Arg)
c.2335C>G (n.2335C>G)
c.157C>G
c.3365C>G (p.Pro1122Arg)
n.3644C>G
11g.9832370G=CA1951790372SBF2c.2210C= (p.Pro737=)
c.3506C= (p.Pro1169=)
c.3392C= (p.Pro1131=)
c.3113C= (p.Pro1038=)
c.3368C= (p.Pro1123=)
n.677C=
c.2400C= (n.2400C=)
c.3500C= (p.Pro1167=)
c.2305C= (n.2305C=)
c.3377C= (p.Pro1126=)
c.2335C= (n.2335C=)
c.157C=
c.3365C= (p.Pro1122=)
n.3644C=
11g.9832370G>TCA217634302SBF2c.2210C>A (p.Pro737Gln)
c.3506C>A (p.Pro1169Gln)
c.3392C>A (p.Pro1131Gln)
c.3113C>A (p.Pro1038Gln)
c.3368C>A (p.Pro1123Gln)
n.677C>A
c.2400C>A (n.2400C>A)
c.3500C>A (p.Pro1167Gln)
c.2305C>A (n.2305C>A)
c.3377C>A (p.Pro1126Gln)
c.2335C>A (n.2335C>A)
c.157C>A
c.3365C>A (p.Pro1122Gln)
n.3644C>A
 dbSNP
11g.9832371G>ACA379645750SBF2c.2209C>T (p.Pro737Ser)
c.3505C>T (p.Pro1169Ser)
c.3391C>T (p.Pro1131Ser)
c.3112C>T (p.Pro1038Ser)
c.3367C>T (p.Pro1123Ser)
n.676C>T
c.2399C>T (n.2399C>T)
c.3499C>T (p.Pro1167Ser)
c.2304C>T (n.2304C>T)
c.3376C>T (p.Pro1126Ser)
c.2334C>T (n.2334C>T)
c.156C>T
c.3364C>T (p.Pro1122Ser)
n.3643C>T
11g.9832371G>CCA379645751SBF2c.2209C>G (p.Pro737Ala)
c.3505C>G (p.Pro1169Ala)
c.3391C>G (p.Pro1131Ala)
c.3112C>G (p.Pro1038Ala)
c.3367C>G (p.Pro1123Ala)
n.676C>G
c.2399C>G (n.2399C>G)
c.3499C>G (p.Pro1167Ala)
c.2304C>G (n.2304C>G)
c.3376C>G (p.Pro1126Ala)
c.2334C>G (n.2334C>G)
c.156C>G
c.3364C>G (p.Pro1122Ala)
n.3643C>G
11g.9832371G=CA1951790376SBF2c.2209C= (p.Pro737=)
c.3505C= (p.Pro1169=)
c.3391C= (p.Pro1131=)
c.3112C= (p.Pro1038=)
c.3367C= (p.Pro1123=)
n.676C=
c.2399C= (n.2399C=)
c.3499C= (p.Pro1167=)
c.2304C= (n.2304C=)
c.3376C= (p.Pro1126=)
c.2334C= (n.2334C=)
c.156C=
c.3364C= (p.Pro1122=)
n.3643C=
11g.9832371G>TCA5881250SBF2c.2209C>A (p.Pro737Thr)
c.3505C>A (p.Pro1169Thr)
c.3391C>A (p.Pro1131Thr)
c.3112C>A (p.Pro1038Thr)
c.3367C>A (p.Pro1123Thr)
n.676C>A
c.2399C>A (n.2399C>A)
c.3499C>A (p.Pro1167Thr)
c.2304C>A (n.2304C>A)
c.3376C>A (p.Pro1126Thr)
c.2334C>A (n.2334C>A)
c.156C>A
c.3364C>A (p.Pro1122Thr)
n.3643C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832372T>ACA379645752SBF2c.2208A>T (p.Leu736Phe)
c.3504A>T (p.Leu1168Phe)
c.3390A>T (p.Leu1130Phe)
c.3111A>T (p.Leu1037Phe)
c.3366A>T (p.Leu1122Phe)
n.675A>T
c.2398A>T (n.2398A>T)
c.3498A>T (p.Leu1166Phe)
c.2303A>T (n.2303A>T)
c.3375A>T (p.Leu1125Phe)
c.2333A>T (n.2333A>T)
c.155A>T
c.3363A>T (p.Leu1121Phe)
n.3642A>T
11g.9832372T>CCA473070873SBF2c.2208A>G (p.Leu736=)
c.3504A>G (p.Leu1168=)
c.3390A>G (p.Leu1130=)
c.3111A>G (p.Leu1037=)
c.3366A>G (p.Leu1122=)
n.675A>G
c.2398A>G (n.2398A>G)
c.3498A>G (p.Leu1166=)
c.2303A>G (n.2303A>G)
c.3375A>G (p.Leu1125=)
c.2333A>G (n.2333A>G)
c.155A>G
c.3363A>G (p.Leu1121=)
n.3642A>G
11g.9832372T>GCA379645753SBF2c.2208A>C (p.Leu736Phe)
c.3504A>C (p.Leu1168Phe)
c.3390A>C (p.Leu1130Phe)
c.3111A>C (p.Leu1037Phe)
c.3366A>C (p.Leu1122Phe)
n.675A>C
c.2398A>C (n.2398A>C)
c.3498A>C (p.Leu1166Phe)
c.2303A>C (n.2303A>C)
c.3375A>C (p.Leu1125Phe)
c.2333A>C (n.2333A>C)
c.155A>C
c.3363A>C (p.Leu1121Phe)
n.3642A>C
11g.9832372_9832373delinsTACA1951790379SBF2c.2207_2208delinsTA (p.Leu736=)
c.3503_3504delinsTA (p.Leu1168=)
c.3389_3390delinsTA (p.Leu1130=)
c.3110_3111delinsTA (p.Leu1037=)
c.3365_3366delinsTA (p.Leu1122=)
n.674_675delinsTA
c.2397_2398delinsTA (n.2397_2398delinsTA)
c.3497_3498delinsTA (p.Leu1166=)
c.2302_2303delinsTA (n.2302_2303delinsTA)
c.3374_3375delinsTA (p.Leu1125=)
c.2332_2333delinsTA (n.2332_2333delinsTA)
c.154_155delinsTA
c.3362_3363delinsTA (p.Leu1121=)
n.3641_3642delinsTA
11g.9832373A>CCA379645755SBF2c.2207T>G (p.Leu736Ter)
c.3503T>G (p.Leu1168Ter)
c.3389T>G (p.Leu1130Ter)
c.3110T>G (p.Leu1037Ter)
c.3365T>G (p.Leu1122Ter)
n.674T>G
c.2397T>G (n.2397T>G)
c.3497T>G (p.Leu1166Ter)
c.2302T>G (n.2302T>G)
c.3374T>G (p.Leu1125Ter)
c.2332T>G (n.2332T>G)
c.154T>G
c.3362T>G (p.Leu1121Ter)
n.3641T>G
11g.9832373A>GCA379645756SBF2c.2207T>C (p.Leu736Ser)
c.3503T>C (p.Leu1168Ser)
c.3389T>C (p.Leu1130Ser)
c.3110T>C (p.Leu1037Ser)
c.3365T>C (p.Leu1122Ser)
n.674T>C
c.2397T>C (n.2397T>C)
c.3497T>C (p.Leu1166Ser)
c.2302T>C (n.2302T>C)
c.3374T>C (p.Leu1125Ser)
c.2332T>C (n.2332T>C)
c.154T>C
c.3362T>C (p.Leu1121Ser)
n.3641T>C
11g.9832373A>TCA379645754SBF2c.2207T>A (p.Leu736Ter)
c.3503T>A (p.Leu1168Ter)
c.3389T>A (p.Leu1130Ter)
c.3110T>A (p.Leu1037Ter)
c.3365T>A (p.Leu1122Ter)
n.674T>A
c.2397T>A (n.2397T>A)
c.3497T>A (p.Leu1166Ter)
c.2302T>A (n.2302T>A)
c.3374T>A (p.Leu1125Ter)
c.2332T>A (n.2332T>A)
c.154T>A
c.3362T>A (p.Leu1121Ter)
n.3641T>A
11g.9832375delCA935028647SBF2c.2207del (p.Leu736TyrfsTer4)
c.3503del (p.Leu1168TyrfsTer4)
c.3389del (p.Leu1130TyrfsTer4)
c.3110del (p.Leu1037TyrfsTer4)
c.3365del (p.Leu1122TyrfsTer4)
n.674del
c.2397del (n.2397del)
c.3497del (p.Leu1166TyrfsTer4)
c.2302del (n.2302del)
c.3374del (p.Leu1125TyrfsTer4)
c.2332del (n.2332del)
c.154del
c.3362del (p.Leu1121TyrfsTer4)
n.3641del
 dbSNP gnomAD v3 gnomAD v4
11g.9832374A>CCA379645757SBF2c.2206T>G (p.Leu736Val)
c.3502T>G (p.Leu1168Val)
c.3388T>G (p.Leu1130Val)
c.3109T>G (p.Leu1037Val)
c.3364T>G (p.Leu1122Val)
n.673T>G
c.2396T>G (n.2396T>G)
c.3496T>G (p.Leu1166Val)
c.2301T>G (n.2301T>G)
c.3373T>G (p.Leu1125Val)
c.2331T>G (n.2331T>G)
c.153T>G
c.3361T>G (p.Leu1121Val)
n.3640T>G
11g.9832374A>GCA473070884SBF2c.2206T>C (p.Leu736=)
c.3502T>C (p.Leu1168=)
c.3388T>C (p.Leu1130=)
c.3109T>C (p.Leu1037=)
c.3364T>C (p.Leu1122=)
n.673T>C
c.2396T>C (n.2396T>C)
c.3496T>C (p.Leu1166=)
c.2301T>C (n.2301T>C)
c.3373T>C (p.Leu1125=)
c.2331T>C (n.2331T>C)
c.153T>C
c.3361T>C (p.Leu1121=)
n.3640T>C
11g.9832374A>TCA379645758SBF2c.2206T>A (p.Leu736Ile)
c.3502T>A (p.Leu1168Ile)
c.3388T>A (p.Leu1130Ile)
c.3109T>A (p.Leu1037Ile)
c.3364T>A (p.Leu1122Ile)
n.673T>A
c.2396T>A (n.2396T>A)
c.3496T>A (p.Leu1166Ile)
c.2301T>A (n.2301T>A)
c.3373T>A (p.Leu1125Ile)
c.2331T>A (n.2331T>A)
c.153T>A
c.3361T>A (p.Leu1121Ile)
n.3640T>A
11g.9832375A>CCA379645759SBF2c.2205T>G (p.Ser735Arg)
c.3501T>G (p.Ser1167Arg)
c.3387T>G (p.Ser1129Arg)
c.3108T>G (p.Ser1036Arg)
c.3363T>G (p.Ser1121Arg)
n.672T>G
c.2395T>G (n.2395T>G)
c.3495T>G (p.Ser1165Arg)
c.2300T>G (n.2300T>G)
c.3372T>G (p.Ser1124Arg)
c.2330T>G (n.2330T>G)
c.152T>G
c.3360T>G (p.Ser1120Arg)
n.3639T>G
11g.9832375A>GCA473070888SBF2c.2205T>C (p.Ser735=)
c.3501T>C (p.Ser1167=)
c.3387T>C (p.Ser1129=)
c.3108T>C (p.Ser1036=)
c.3363T>C (p.Ser1121=)
n.672T>C
c.2395T>C (n.2395T>C)
c.3495T>C (p.Ser1165=)
c.2300T>C (n.2300T>C)
c.3372T>C (p.Ser1124=)
c.2330T>C (n.2330T>C)
c.152T>C
c.3360T>C (p.Ser1120=)
n.3639T>C
 ClinVar
11g.9832375A>TCA379645760SBF2c.2205T>A (p.Ser735Arg)
c.3501T>A (p.Ser1167Arg)
c.3387T>A (p.Ser1129Arg)
c.3108T>A (p.Ser1036Arg)
c.3363T>A (p.Ser1121Arg)
n.672T>A
c.2395T>A (n.2395T>A)
c.3495T>A (p.Ser1165Arg)
c.2300T>A (n.2300T>A)
c.3372T>A (p.Ser1124Arg)
c.2330T>A (n.2330T>A)
c.152T>A
c.3360T>A (p.Ser1120Arg)
n.3639T>A
 gnomAD v4
11g.9832376C>ACA379645761SBF2c.2204G>T (p.Ser735Ile)
c.3500G>T (p.Ser1167Ile)
c.3386G>T (p.Ser1129Ile)
c.3107G>T (p.Ser1036Ile)
c.3362G>T (p.Ser1121Ile)
n.671G>T
c.2394G>T (n.2394G>T)
c.3494G>T (p.Ser1165Ile)
c.2299G>T (n.2299G>T)
c.3371G>T (p.Ser1124Ile)
c.2329G>T (n.2329G>T)
c.151G>T
c.3359G>T (p.Ser1120Ile)
n.3638G>T
11g.9832376C>GCA379645762SBF2c.2204G>C (p.Ser735Thr)
c.3500G>C (p.Ser1167Thr)
c.3386G>C (p.Ser1129Thr)
c.3107G>C (p.Ser1036Thr)
c.3362G>C (p.Ser1121Thr)
n.671G>C
c.2394G>C (n.2394G>C)
c.3494G>C (p.Ser1165Thr)
c.2299G>C (n.2299G>C)
c.3371G>C (p.Ser1124Thr)
c.2329G>C (n.2329G>C)
c.151G>C
c.3359G>C (p.Ser1120Thr)
n.3638G>C
11g.9832376C>TCA379645763SBF2c.2204G>A (p.Ser735Asn)
c.3500G>A (p.Ser1167Asn)
c.3386G>A (p.Ser1129Asn)
c.3107G>A (p.Ser1036Asn)
c.3362G>A (p.Ser1121Asn)
n.671G>A
c.2394G>A (n.2394G>A)
c.3494G>A (p.Ser1165Asn)
c.2299G>A (n.2299G>A)
c.3371G>A (p.Ser1124Asn)
c.2329G>A (n.2329G>A)
c.151G>A
c.3359G>A (p.Ser1120Asn)
n.3638G>A
11g.9832377T>ACA379645764SBF2c.2203A>T (p.Ser735Cys)
c.3499A>T (p.Ser1167Cys)
c.3385A>T (p.Ser1129Cys)
c.3106A>T (p.Ser1036Cys)
c.3361A>T (p.Ser1121Cys)
n.670A>T
c.2393A>T (n.2393A>T)
c.3493A>T (p.Ser1165Cys)
c.2298A>T (n.2298A>T)
c.3370A>T (p.Ser1124Cys)
c.2328A>T (n.2328A>T)
c.150A>T
c.3358A>T (p.Ser1120Cys)
n.3637A>T
11g.9832377T>CCA379645765SBF2c.2203A>G (p.Ser735Gly)
c.3499A>G (p.Ser1167Gly)
c.3385A>G (p.Ser1129Gly)
c.3106A>G (p.Ser1036Gly)
c.3361A>G (p.Ser1121Gly)
n.670A>G
c.2393A>G (n.2393A>G)
c.3493A>G (p.Ser1165Gly)
c.2298A>G (n.2298A>G)
c.3370A>G (p.Ser1124Gly)
c.2328A>G (n.2328A>G)
c.150A>G
c.3358A>G (p.Ser1120Gly)
n.3637A>G
11g.9832377T>GCA379645766SBF2c.2203A>C (p.Ser735Arg)
c.3499A>C (p.Ser1167Arg)
c.3385A>C (p.Ser1129Arg)
c.3106A>C (p.Ser1036Arg)
c.3361A>C (p.Ser1121Arg)
n.670A>C
c.2393A>C (n.2393A>C)
c.3493A>C (p.Ser1165Arg)
c.2298A>C (n.2298A>C)
c.3370A>C (p.Ser1124Arg)
c.2328A>C (n.2328A>C)
c.150A>C
c.3358A>C (p.Ser1120Arg)
n.3637A>C
11g.9832378A=CA1951790383SBF2c.2202T= (p.Ser734=)
c.3498T= (p.Ser1166=)
c.3384T= (p.Ser1128=)
c.3105T= (p.Ser1035=)
c.3360T= (p.Ser1120=)
n.669T=
c.2392T= (n.2392T=)
c.3492T= (p.Ser1164=)
c.2297T= (n.2297T=)
c.3369T= (p.Ser1123=)
c.2327T= (n.2327T=)
c.149T=
c.3357T= (p.Ser1119=)
n.3636T=
11g.9832378A>CCA379645767SBF2c.2202T>G (p.Ser734Arg)
c.3498T>G (p.Ser1166Arg)
c.3384T>G (p.Ser1128Arg)
c.3105T>G (p.Ser1035Arg)
c.3360T>G (p.Ser1120Arg)
n.669T>G
c.2392T>G (n.2392T>G)
c.3492T>G (p.Ser1164Arg)
c.2297T>G (n.2297T>G)
c.3369T>G (p.Ser1123Arg)
c.2327T>G (n.2327T>G)
c.149T>G
c.3357T>G (p.Ser1119Arg)
n.3636T>G
11g.9832378A>GCA473070899SBF2c.2202T>C (p.Ser734=)
c.3498T>C (p.Ser1166=)
c.3384T>C (p.Ser1128=)
c.3105T>C (p.Ser1035=)
c.3360T>C (p.Ser1120=)
n.669T>C
c.2392T>C (n.2392T>C)
c.3492T>C (p.Ser1164=)
c.2297T>C (n.2297T>C)
c.3369T>C (p.Ser1123=)
c.2327T>C (n.2327T>C)
c.149T>C
c.3357T>C (p.Ser1119=)
n.3636T>C
 dbSNP gnomAD v4
11g.9832378A>TCA379645768SBF2c.2202T>A (p.Ser734Arg)
c.3498T>A (p.Ser1166Arg)
c.3384T>A (p.Ser1128Arg)
c.3105T>A (p.Ser1035Arg)
c.3360T>A (p.Ser1120Arg)
n.669T>A
c.2392T>A (n.2392T>A)
c.3492T>A (p.Ser1164Arg)
c.2297T>A (n.2297T>A)
c.3369T>A (p.Ser1123Arg)
c.2327T>A (n.2327T>A)
c.149T>A
c.3357T>A (p.Ser1119Arg)
n.3636T>A
11g.9832379C>ACA379645772SBF2c.2201G>T (p.Ser734Ile)
c.3497G>T (p.Ser1166Ile)
c.3383G>T (p.Ser1128Ile)
c.3104G>T (p.Ser1035Ile)
c.3359G>T (p.Ser1120Ile)
n.668G>T
c.2391G>T (n.2391G>T)
c.3491G>T (p.Ser1164Ile)
c.2296G>T (n.2296G>T)
c.3368G>T (p.Ser1123Ile)
c.2326G>T (n.2326G>T)
c.148G>T
c.3356G>T (p.Ser1119Ile)
n.3635G>T
11g.9832379C>GCA379645771SBF2c.2201G>C (p.Ser734Thr)
c.3497G>C (p.Ser1166Thr)
c.3383G>C (p.Ser1128Thr)
c.3104G>C (p.Ser1035Thr)
c.3359G>C (p.Ser1120Thr)
n.668G>C
c.2391G>C (n.2391G>C)
c.3491G>C (p.Ser1164Thr)
c.2296G>C (n.2296G>C)
c.3368G>C (p.Ser1123Thr)
c.2326G>C (n.2326G>C)
c.148G>C
c.3356G>C (p.Ser1119Thr)
n.3635G>C
 gnomAD v4
11g.9832379C>TCA379645769SBF2c.2201G>A (p.Ser734Asn)
c.3497G>A (p.Ser1166Asn)
c.3383G>A (p.Ser1128Asn)
c.3104G>A (p.Ser1035Asn)
c.3359G>A (p.Ser1120Asn)
n.668G>A
c.2391G>A (n.2391G>A)
c.3491G>A (p.Ser1164Asn)
c.2296G>A (n.2296G>A)
c.3368G>A (p.Ser1123Asn)
c.2326G>A (n.2326G>A)
c.148G>A
c.3356G>A (p.Ser1119Asn)
n.3635G>A
11g.9832380T>ACA379645774SBF2c.2200A>T (p.Ser734Cys)
c.3496A>T (p.Ser1166Cys)
c.3382A>T (p.Ser1128Cys)
c.3103A>T (p.Ser1035Cys)
c.3358A>T (p.Ser1120Cys)
n.667A>T
c.2390A>T (n.2390A>T)
c.3490A>T (p.Ser1164Cys)
c.2295A>T (n.2295A>T)
c.3367A>T (p.Ser1123Cys)
c.2325A>T (n.2325A>T)
c.147A>T
c.3355A>T (p.Ser1119Cys)
n.3634A>T
11g.9832380T>CCA5881251SBF2c.2200A>G (p.Ser734Gly)
c.3496A>G (p.Ser1166Gly)
c.3382A>G (p.Ser1128Gly)
c.3103A>G (p.Ser1035Gly)
c.3358A>G (p.Ser1120Gly)
n.667A>G
c.2390A>G (n.2390A>G)
c.3490A>G (p.Ser1164Gly)
c.2295A>G (n.2295A>G)
c.3367A>G (p.Ser1123Gly)
c.2325A>G (n.2325A>G)
c.147A>G
c.3355A>G (p.Ser1119Gly)
n.3634A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.9832380T>GCA379645776SBF2c.2200A>C (p.Ser734Arg)
c.3496A>C (p.Ser1166Arg)
c.3382A>C (p.Ser1128Arg)
c.3103A>C (p.Ser1035Arg)
c.3358A>C (p.Ser1120Arg)
n.667A>C
c.2390A>C (n.2390A>C)
c.3490A>C (p.Ser1164Arg)
c.2295A>C (n.2295A>C)
c.3367A>C (p.Ser1123Arg)
c.2325A>C (n.2325A>C)
c.147A>C
c.3355A>C (p.Ser1119Arg)
n.3634A>C
 gnomAD v4
11g.9832380T=CA1951790387SBF2c.2200A= (p.Ser734=)
c.3496A= (p.Ser1166=)
c.3382A= (p.Ser1128=)
c.3103A= (p.Ser1035=)
c.3358A= (p.Ser1120=)
n.667A=
c.2390A= (n.2390A=)
c.3490A= (p.Ser1164=)
c.2295A= (n.2295A=)
c.3367A= (p.Ser1123=)
c.2325A= (n.2325A=)
c.147A=
c.3355A= (p.Ser1119=)
n.3634A=
11g.9832381G>ACA5881252SBF2c.2199C>T (p.Asp733=)
c.3495C>T (p.Asp1165=)
c.3381C>T (p.Asp1127=)
c.3102C>T (p.Asp1034=)
c.3357C>T (p.Asp1119=)
n.666C>T
c.2389C>T (n.2389C>T)
c.3489C>T (p.Asp1163=)
c.2294C>T (n.2294C>T)
c.3366C>T (p.Asp1122=)
c.2324C>T (n.2324C>T)
c.146C>T
c.3354C>T (p.Asp1118=)
n.3633C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.9832381G>CCA379645779SBF2c.2199C>G (p.Asp733Glu)
c.3495C>G (p.Asp1165Glu)
c.3381C>G (p.Asp1127Glu)
c.3102C>G (p.Asp1034Glu)
c.3357C>G (p.Asp1119Glu)
n.666C>G
c.2389C>G (n.2389C>G)
c.3489C>G (p.Asp1163Glu)
c.2294C>G (n.2294C>G)
c.3366C>G (p.Asp1122Glu)
c.2324C>G (n.2324C>G)
c.146C>G
c.3354C>G (p.Asp1118Glu)
n.3633C>G
11g.9832381G=CA1951790390SBF2c.2199C= (p.Asp733=)
c.3495C= (p.Asp1165=)
c.3381C= (p.Asp1127=)
c.3102C= (p.Asp1034=)
c.3357C= (p.Asp1119=)
n.666C=
c.2389C= (n.2389C=)
c.3489C= (p.Asp1163=)
c.2294C= (n.2294C=)
c.3366C= (p.Asp1122=)
c.2324C= (n.2324C=)
c.146C=
c.3354C= (p.Asp1118=)
n.3633C=
11g.9832381G>TCA379645782SBF2c.2199C>A (p.Asp733Glu)
c.3495C>A (p.Asp1165Glu)
c.3381C>A (p.Asp1127Glu)
c.3102C>A (p.Asp1034Glu)
c.3357C>A (p.Asp1119Glu)
n.666C>A
c.2389C>A (n.2389C>A)
c.3489C>A (p.Asp1163Glu)
c.2294C>A (n.2294C>A)
c.3366C>A (p.Asp1122Glu)
c.2324C>A (n.2324C>A)
c.146C>A
c.3354C>A (p.Asp1118Glu)
n.3633C>A
11g.9832382T>ACA379645785SBF2c.2198A>T (p.Asp733Val)
c.3494A>T (p.Asp1165Val)
c.3380A>T (p.Asp1127Val)
c.3101A>T (p.Asp1034Val)
c.3356A>T (p.Asp1119Val)
n.665A>T
c.2388A>T (n.2388A>T)
c.3488A>T (p.Asp1163Val)
c.2293A>T (n.2293A>T)
c.3365A>T (p.Asp1122Val)
c.2323A>T (n.2323A>T)
c.145A>T
c.3353A>T (p.Asp1118Val)
n.3632A>T
11g.9832382T>CCA379645786SBF2c.2198A>G (p.Asp733Gly)
c.3494A>G (p.Asp1165Gly)
c.3380A>G (p.Asp1127Gly)
c.3101A>G (p.Asp1034Gly)
c.3356A>G (p.Asp1119Gly)
n.665A>G
c.2388A>G (n.2388A>G)
c.3488A>G (p.Asp1163Gly)
c.2293A>G (n.2293A>G)
c.3365A>G (p.Asp1122Gly)
c.2323A>G (n.2323A>G)
c.145A>G
c.3353A>G (p.Asp1118Gly)
n.3632A>G
11g.9832382T>GCA379645788SBF2c.2198A>C (p.Asp733Ala)
c.3494A>C (p.Asp1165Ala)
c.3380A>C (p.Asp1127Ala)
c.3101A>C (p.Asp1034Ala)
c.3356A>C (p.Asp1119Ala)
n.665A>C
c.2388A>C (n.2388A>C)
c.3488A>C (p.Asp1163Ala)
c.2293A>C (n.2293A>C)
c.3365A>C (p.Asp1122Ala)
c.2323A>C (n.2323A>C)
c.145A>C
c.3353A>C (p.Asp1118Ala)
n.3632A>C
11g.9832383C>ACA379645790SBF2c.2197G>T (p.Asp733Tyr)
c.3493G>T (p.Asp1165Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3100G>T (p.Asp1034Tyr)
c.3355G>T (p.Asp1119Tyr)
n.664G>T
c.2387G>T (n.2387G>T)
c.3487G>T (p.Asp1163Tyr)
c.2292G>T (n.2292G>T)
c.3364G>T (p.Asp1122Tyr)
c.2322G>T (n.2322G>T)
c.144G>T
c.3352G>T (p.Asp1118Tyr)
n.3631G>T
11g.9832383C>GCA379645792SBF2c.2197G>C (p.Asp733His)
c.3493G>C (p.Asp1165His)
c.3379G>C (p.Asp1127His)
c.3100G>C (p.Asp1034His)
c.3355G>C (p.Asp1119His)
n.664G>C
c.2387G>C (n.2387G>C)
c.3487G>C (p.Asp1163His)
c.2292G>C (n.2292G>C)
c.3364G>C (p.Asp1122His)
c.2322G>C (n.2322G>C)
c.144G>C
c.3352G>C (p.Asp1118His)
n.3631G>C
11g.9832383C>TCA379645794SBF2c.2197G>A (p.Asp733Asn)
c.3493G>A (p.Asp1165Asn)
c.3379G>A (p.Asp1127Asn)
c.3100G>A (p.Asp1034Asn)
c.3355G>A (p.Asp1119Asn)
n.664G>A
c.2387G>A (n.2387G>A)
c.3487G>A (p.Asp1163Asn)
c.2292G>A (n.2292G>A)
c.3364G>A (p.Asp1122Asn)
c.2322G>A (n.2322G>A)
c.144G>A
c.3352G>A (p.Asp1118Asn)
n.3631G>A
11g.9832384C>ACA379645796SBF2c.2196G>T (p.Gln732His)
c.3492G>T (p.Gln1164His)
c.3378G>T (p.Gln1126His)
c.3099G>T (p.Gln1033His)
c.3354G>T (p.Gln1118His)
n.663G>T
c.2386G>T (n.2386G>T)
c.3486G>T (p.Gln1162His)
c.2291G>T (n.2291G>T)
c.3363G>T (p.Gln1121His)
c.2321G>T (n.2321G>T)
c.143G>T
c.3351G>T (p.Gln1117His)
n.3630G>T
11g.9832384C>GCA379645797SBF2c.2196G>C (p.Gln732His)
c.3492G>C (p.Gln1164His)
c.3378G>C (p.Gln1126His)
c.3099G>C (p.Gln1033His)
c.3354G>C (p.Gln1118His)
n.663G>C
c.2386G>C (n.2386G>C)
c.3486G>C (p.Gln1162His)
c.2291G>C (n.2291G>C)
c.3363G>C (p.Gln1121His)
c.2321G>C (n.2321G>C)
c.143G>C
c.3351G>C (p.Gln1117His)
n.3630G>C
11g.9832384C>TCA473070931SBF2c.2196G>A (p.Gln732=)
c.3492G>A (p.Gln1164=)
c.3378G>A (p.Gln1126=)
c.3099G>A (p.Gln1033=)
c.3354G>A (p.Gln1118=)
n.663G>A
c.2386G>A (n.2386G>A)
c.3486G>A (p.Gln1162=)
c.2291G>A (n.2291G>A)
c.3363G>A (p.Gln1121=)
c.2321G>A (n.2321G>A)
c.143G>A
c.3351G>A (p.Gln1117=)
n.3630G>A
11g.9832385T>ACA379645801SBF2c.2195A>T (p.Gln732Leu)
c.3491A>T (p.Gln1164Leu)
c.3377A>T (p.Gln1126Leu)
c.3098A>T (p.Gln1033Leu)
c.3353A>T (p.Gln1118Leu)
n.662A>T
c.2385A>T (n.2385A>T)
c.3485A>T (p.Gln1162Leu)
c.2290A>T (n.2290A>T)
c.3362A>T (p.Gln1121Leu)
c.2320A>T (n.2320A>T)
c.142A>T
c.3350A>T (p.Gln1117Leu)
n.3629A>T
11g.9832385T>CCA379645802SBF2c.2195A>G (p.Gln732Arg)
c.3491A>G (p.Gln1164Arg)
c.3377A>G (p.Gln1126Arg)
c.3098A>G (p.Gln1033Arg)
c.3353A>G (p.Gln1118Arg)
n.662A>G
c.2385A>G (n.2385A>G)
c.3485A>G (p.Gln1162Arg)
c.2290A>G (n.2290A>G)
c.3362A>G (p.Gln1121Arg)
c.2320A>G (n.2320A>G)
c.142A>G
c.3350A>G (p.Gln1117Arg)
n.3629A>G
11g.9832385T>GCA379645799SBF2c.2195A>C (p.Gln732Pro)
c.3491A>C (p.Gln1164Pro)
c.3377A>C (p.Gln1126Pro)
c.3098A>C (p.Gln1033Pro)
c.3353A>C (p.Gln1118Pro)
n.662A>C
c.2385A>C (n.2385A>C)
c.3485A>C (p.Gln1162Pro)
c.2290A>C (n.2290A>C)
c.3362A>C (p.Gln1121Pro)
c.2320A>C (n.2320A>C)
c.142A>C
c.3350A>C (p.Gln1117Pro)
n.3629A>C
11g.9832386G>ACA379645804SBF2c.2194C>T (p.Gln732Ter)
c.3490C>T (p.Gln1164Ter)
c.3376C>T (p.Gln1126Ter)
c.3097C>T (p.Gln1033Ter)
c.3352C>T (p.Gln1118Ter)
n.661C>T
c.2384C>T (n.2384C>T)
c.3484C>T (p.Gln1162Ter)
c.2289C>T (n.2289C>T)
c.3361C>T (p.Gln1121Ter)
c.2319C>T (n.2319C>T)
c.141C>T
c.3349C>T (p.Gln1117Ter)
n.3628C>T
11g.9832386G>CCA379645806SBF2c.2194C>G (p.Gln732Glu)
c.3490C>G (p.Gln1164Glu)
c.3376C>G (p.Gln1126Glu)
c.3097C>G (p.Gln1033Glu)
c.3352C>G (p.Gln1118Glu)
n.661C>G
c.2384C>G (n.2384C>G)
c.3484C>G (p.Gln1162Glu)
c.2289C>G (n.2289C>G)
c.3361C>G (p.Gln1121Glu)
c.2319C>G (n.2319C>G)
c.141C>G
c.3349C>G (p.Gln1117Glu)
n.3628C>G
11g.9832386G>TCA379645807SBF2c.2194C>A (p.Gln732Lys)
c.3490C>A (p.Gln1164Lys)
c.3376C>A (p.Gln1126Lys)
c.3097C>A (p.Gln1033Lys)
c.3352C>A (p.Gln1118Lys)
n.661C>A
c.2384C>A (n.2384C>A)
c.3484C>A (p.Gln1162Lys)
c.2289C>A (n.2289C>A)
c.3361C>A (p.Gln1121Lys)
c.2319C>A (n.2319C>A)
c.141C>A
c.3349C>A (p.Gln1117Lys)
n.3628C>A
11g.9832387T>ACA473070974SBF2c.2193A>T (p.Val731=)
c.3489A>T (p.Val1163=)
c.3375A>T (p.Val1125=)
c.3096A>T (p.Val1032=)
c.3351A>T (p.Val1117=)
n.660A>T
c.2383A>T (n.2383A>T)
c.3483A>T (p.Val1161=)
c.2288A>T (n.2288A>T)
c.3360A>T (p.Val1120=)
c.2318A>T (n.2318A>T)
c.140A>T
c.3348A>T (p.Val1116=)
n.3627A>T
11g.9832387T>CCA473070976SBF2c.2193A>G (p.Val731=)
c.3489A>G (p.Val1163=)
c.3375A>G (p.Val1125=)
c.3096A>G (p.Val1032=)
c.3351A>G (p.Val1117=)
n.660A>G
c.2383A>G (n.2383A>G)
c.3483A>G (p.Val1161=)
c.2288A>G (n.2288A>G)
c.3360A>G (p.Val1120=)
c.2318A>G (n.2318A>G)
c.140A>G
c.3348A>G (p.Val1116=)
n.3627A>G
11g.9832387T>GCA473070977SBF2c.2193A>C (p.Val731=)
c.3489A>C (p.Val1163=)
c.3375A>C (p.Val1125=)
c.3096A>C (p.Val1032=)
c.3351A>C (p.Val1117=)
n.660A>C
c.2383A>C (n.2383A>C)
c.3483A>C (p.Val1161=)
c.2288A>C (n.2288A>C)
c.3360A>C (p.Val1120=)
c.2318A>C (n.2318A>C)
c.140A>C
c.3348A>C (p.Val1116=)
n.3627A>C
11g.9832388A=CA1951790395SBF2c.2192T= (p.Val731=)
c.3488T= (p.Val1163=)
c.3374T= (p.Val1125=)
c.3095T= (p.Val1032=)
c.3350T= (p.Val1117=)
n.659T=
c.2382T= (n.2382T=)
c.3482T= (p.Val1161=)
c.2287T= (n.2287T=)
c.3359T= (p.Val1120=)
c.2317T= (n.2317T=)
c.139T=
c.3347T= (p.Val1116=)
n.3626T=
11g.9832388A>CCA379645808SBF2c.2192T>G (p.Val731Gly)
c.3488T>G (p.Val1163Gly)
c.3374T>G (p.Val1125Gly)
c.3095T>G (p.Val1032Gly)
c.3350T>G (p.Val1117Gly)
n.659T>G
c.2382T>G (n.2382T>G)
c.3482T>G (p.Val1161Gly)
c.2287T>G (n.2287T>G)
c.3359T>G (p.Val1120Gly)
c.2317T>G (n.2317T>G)
c.139T>G
c.3347T>G (p.Val1116Gly)
n.3626T>G
11g.9832388A>GCA217634318SBF2c.2192T>C (p.Val731Ala)
c.3488T>C (p.Val1163Ala)
c.3374T>C (p.Val1125Ala)
c.3095T>C (p.Val1032Ala)
c.3350T>C (p.Val1117Ala)
n.659T>C
c.2382T>C (n.2382T>C)
c.3482T>C (p.Val1161Ala)
c.2287T>C (n.2287T>C)
c.3359T>C (p.Val1120Ala)
c.2317T>C (n.2317T>C)
c.139T>C
c.3347T>C (p.Val1116Ala)
n.3626T>C
 dbSNP
11g.9832388A>TCA379645811SBF2c.2192T>A (p.Val731Glu)
c.3488T>A (p.Val1163Glu)
c.3374T>A (p.Val1125Glu)
c.3095T>A (p.Val1032Glu)
c.3350T>A (p.Val1117Glu)
n.659T>A
c.2382T>A (n.2382T>A)
c.3482T>A (p.Val1161Glu)
c.2287T>A (n.2287T>A)
c.3359T>A (p.Val1120Glu)
c.2317T>A (n.2317T>A)
c.139T>A
c.3347T>A (p.Val1116Glu)
n.3626T>A
11g.9832389C>ACA379645813SBF2c.2191G>T (p.Val731Leu)
c.3487G>T (p.Val1163Leu)
c.3373G>T (p.Val1125Leu)
c.3094G>T (p.Val1032Leu)
c.3349G>T (p.Val1117Leu)
n.658G>T
c.2381G>T (n.2381G>T)
c.3481G>T (p.Val1161Leu)
c.2286G>T (n.2286G>T)
c.3358G>T (p.Val1120Leu)
c.2316G>T (n.2316G>T)
c.138G>T
c.3346G>T (p.Val1116Leu)
n.3625G>T
11g.9832389C=CA1951790399SBF2c.2191G= (p.Val731=)
c.3487G= (p.Val1163=)
c.3373G= (p.Val1125=)
c.3094G= (p.Val1032=)
c.3349G= (p.Val1117=)
n.658G=
c.2381G= (n.2381G=)
c.3481G= (p.Val1161=)
c.2286G= (n.2286G=)
c.3358G= (p.Val1120=)
c.2316G= (n.2316G=)
c.138G=
c.3346G= (p.Val1116=)
n.3625G=
11g.9832389C>GCA379645814SBF2c.2191G>C (p.Val731Leu)
c.3487G>C (p.Val1163Leu)
c.3373G>C (p.Val1125Leu)
c.3094G>C (p.Val1032Leu)
c.3349G>C (p.Val1117Leu)
n.658G>C
c.2381G>C (n.2381G>C)
c.3481G>C (p.Val1161Leu)
c.2286G>C (n.2286G>C)
c.3358G>C (p.Val1120Leu)
c.2316G>C (n.2316G>C)
c.138G>C
c.3346G>C (p.Val1116Leu)
n.3625G>C
11g.9832389C>TCA379645816SBF2c.2191G>A (p.Val731Ile)
c.3487G>A (p.Val1163Ile)
c.3373G>A (p.Val1125Ile)
c.3094G>A (p.Val1032Ile)
c.3349G>A (p.Val1117Ile)
n.658G>A
c.2381G>A (n.2381G>A)
c.3481G>A (p.Val1161Ile)
c.2286G>A (n.2286G>A)
c.3358G>A (p.Val1120Ile)
c.2316G>A (n.2316G>A)
c.138G>A
c.3346G>A (p.Val1116Ile)
n.3625G>A
 dbSNP gnomAD v2 gnomAD v4
11g.9832390A>CCA473070987SBF2c.2190T>G (p.Ala730=)
c.3486T>G (p.Ala1162=)
c.3372T>G (p.Ala1124=)
c.3093T>G (p.Ala1031=)
c.3348T>G (p.Ala1116=)
n.657T>G
c.2380T>G (n.2380T>G)
c.3480T>G (p.Ala1160=)
c.2285T>G (n.2285T>G)
c.3357T>G (p.Ala1119=)
c.2315T>G (n.2315T>G)
c.137T>G
c.3345T>G (p.Ala1115=)
n.3624T>G
11g.9832390A>GCA473070989SBF2c.2190T>C (p.Ala730=)
c.3486T>C (p.Ala1162=)
c.3372T>C (p.Ala1124=)
c.3093T>C (p.Ala1031=)
c.3348T>C (p.Ala1116=)
n.657T>C
c.2380T>C (n.2380T>C)
c.3480T>C (p.Ala1160=)
c.2285T>C (n.2285T>C)
c.3357T>C (p.Ala1119=)
c.2315T>C (n.2315T>C)
c.137T>C
c.3345T>C (p.Ala1115=)
n.3624T>C
11g.9832390A>TCA473070992SBF2c.2190T>A (p.Ala730=)
c.3486T>A (p.Ala1162=)
c.3372T>A (p.Ala1124=)
c.3093T>A (p.Ala1031=)
c.3348T>A (p.Ala1116=)
n.657T>A
c.2380T>A (n.2380T>A)
c.3480T>A (p.Ala1160=)
c.2285T>A (n.2285T>A)
c.3357T>A (p.Ala1119=)
c.2315T>A (n.2315T>A)
c.137T>A
c.3345T>A (p.Ala1115=)
n.3624T>A

Number of alleles fetched