Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.144511925G>ACA372668031RECQL4c.3379C>T (p.Pro1127Ser)
c.396C>T
n.50-136C>T
c.625C>T (p.Pro209Ser)
c.2308C>T (p.Pro770Ser)
c.3454C>T (p.Pro1152Ser)
c.3358C>T (p.Pro1120Ser)
c.3262C>T (p.Pro1088Ser)
c.3256C>T (p.Pro1086Ser)
c.3181C>T (p.Pro1061Ser)
c.2317C>T (p.Pro773Ser)
n.3353-136C>T
n.3434C>T
n.3327C>T
c.3544C>T (p.Pro1182Ser)
c.3469C>T (p.Pro1157Ser)
c.3448C>T (p.Pro1150Ser)
c.3346C>T (p.Pro1116Ser)
c.2407C>T (p.Pro803Ser)
n.3439-136C>T
n.3520C>T
n.3411C>T
n.3274C>T
n.3076C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511925G>CCA372668038RECQL4c.3379C>G (p.Pro1127Ala)
c.396C>G
n.50-136C>G
c.625C>G (p.Pro209Ala)
c.2308C>G (p.Pro770Ala)
c.3454C>G (p.Pro1152Ala)
c.3358C>G (p.Pro1120Ala)
c.3262C>G (p.Pro1088Ala)
c.3256C>G (p.Pro1086Ala)
c.3181C>G (p.Pro1061Ala)
c.2317C>G (p.Pro773Ala)
n.3353-136C>G
n.3434C>G
n.3327C>G
c.3544C>G (p.Pro1182Ala)
c.3469C>G (p.Pro1157Ala)
c.3448C>G (p.Pro1150Ala)
c.3346C>G (p.Pro1116Ala)
c.2407C>G (p.Pro803Ala)
n.3439-136C>G
n.3520C>G
n.3411C>G
n.3274C>G
n.3076C>G
 dbSNP
8g.144511925G=CA1826365461RECQL4c.3379C= (p.Pro1127=)
c.396C=
n.50-136C=
c.625C= (p.Pro209=)
c.2308C= (p.Pro770=)
c.3454C= (p.Pro1152=)
c.3358C= (p.Pro1120=)
c.3262C= (p.Pro1088=)
c.3256C= (p.Pro1086=)
c.3181C= (p.Pro1061=)
c.2317C= (p.Pro773=)
n.3353-136C=
n.3434C=
n.3327C=
c.3544C= (p.Pro1182=)
c.3469C= (p.Pro1157=)
c.3448C= (p.Pro1150=)
c.3346C= (p.Pro1116=)
c.2407C= (p.Pro803=)
n.3439-136C=
n.3520C=
n.3411C=
n.3274C=
n.3076C=
8g.144511925G>TCA372668042RECQL4c.3379C>A (p.Pro1127Thr)
c.396C>A
n.50-136C>A
c.625C>A (p.Pro209Thr)
c.2308C>A (p.Pro770Thr)
c.3454C>A (p.Pro1152Thr)
c.3358C>A (p.Pro1120Thr)
c.3262C>A (p.Pro1088Thr)
c.3256C>A (p.Pro1086Thr)
c.3181C>A (p.Pro1061Thr)
c.2317C>A (p.Pro773Thr)
n.3353-136C>A
n.3434C>A
n.3327C>A
c.3544C>A (p.Pro1182Thr)
c.3469C>A (p.Pro1157Thr)
c.3448C>A (p.Pro1150Thr)
c.3346C>A (p.Pro1116Thr)
c.2407C>A (p.Pro803Thr)
n.3439-136C>A
n.3520C>A
n.3411C>A
n.3274C>A
n.3076C>A
 gnomAD v4
8g.144511926C>ACA372668059RECQL4c.3378G>T (p.Glu1126Asp)
c.395G>T
n.50-137G>T
c.624G>T (p.Glu208Asp)
c.2307G>T (p.Glu769Asp)
c.3453G>T (p.Glu1151Asp)
c.3357G>T (p.Glu1119Asp)
c.3261G>T (p.Glu1087Asp)
c.3255G>T (p.Glu1085Asp)
c.3180G>T (p.Glu1060Asp)
c.2316G>T (p.Glu772Asp)
n.3353-137G>T
n.3433G>T
n.3326G>T
c.3543G>T (p.Glu1181Asp)
c.3468G>T (p.Glu1156Asp)
c.3447G>T (p.Glu1149Asp)
c.3345G>T (p.Glu1115Asp)
c.2406G>T (p.Glu802Asp)
n.3439-137G>T
n.3519G>T
n.3410G>T
n.3273G>T
n.3075G>T
 ClinVar dbSNP
8g.144511926C=CA1826365462RECQL4c.3378G= (p.Glu1126=)
c.395G=
n.50-137G=
c.624G= (p.Glu208=)
c.2307G= (p.Glu769=)
c.3453G= (p.Glu1151=)
c.3357G= (p.Glu1119=)
c.3261G= (p.Glu1087=)
c.3255G= (p.Glu1085=)
c.3180G= (p.Glu1060=)
c.2316G= (p.Glu772=)
n.3353-137G=
n.3433G=
n.3326G=
c.3543G= (p.Glu1181=)
c.3468G= (p.Glu1156=)
c.3447G= (p.Glu1149=)
c.3345G= (p.Glu1115=)
c.2406G= (p.Glu802=)
n.3439-137G=
n.3519G=
n.3410G=
n.3273G=
n.3075G=
8g.144511926C>GCA372668056RECQL4c.3378G>C (p.Glu1126Asp)
c.395G>C
n.50-137G>C
c.624G>C (p.Glu208Asp)
c.2307G>C (p.Glu769Asp)
c.3453G>C (p.Glu1151Asp)
c.3357G>C (p.Glu1119Asp)
c.3261G>C (p.Glu1087Asp)
c.3255G>C (p.Glu1085Asp)
c.3180G>C (p.Glu1060Asp)
c.2316G>C (p.Glu772Asp)
n.3353-137G>C
n.3433G>C
n.3326G>C
c.3543G>C (p.Glu1181Asp)
c.3468G>C (p.Glu1156Asp)
c.3447G>C (p.Glu1149Asp)
c.3345G>C (p.Glu1115Asp)
c.2406G>C (p.Glu802Asp)
n.3439-137G>C
n.3519G>C
n.3410G>C
n.3273G>C
n.3075G>C
 ClinVar gnomAD v4
8g.144511926C>TCA463565683RECQL4c.3378G>A (p.Glu1126=)
c.395G>A
n.50-137G>A
c.624G>A (p.Glu208=)
c.2307G>A (p.Glu769=)
c.3453G>A (p.Glu1151=)
c.3357G>A (p.Glu1119=)
c.3261G>A (p.Glu1087=)
c.3255G>A (p.Glu1085=)
c.3180G>A (p.Glu1060=)
c.2316G>A (p.Glu772=)
n.3353-137G>A
n.3433G>A
n.3326G>A
c.3543G>A (p.Glu1181=)
c.3468G>A (p.Glu1156=)
c.3447G>A (p.Glu1149=)
c.3345G>A (p.Glu1115=)
c.2406G>A (p.Glu802=)
n.3439-137G>A
n.3519G>A
n.3410G>A
n.3273G>A
n.3075G>A
 gnomAD v4
8g.144511927T>ACA372668061RECQL4c.3377A>T (p.Glu1126Val)
c.394A>T
n.50-138A>T
c.623A>T (p.Glu208Val)
c.2306A>T (p.Glu769Val)
c.3452A>T (p.Glu1151Val)
c.3356A>T (p.Glu1119Val)
c.3260A>T (p.Glu1087Val)
c.3254A>T (p.Glu1085Val)
c.3179A>T (p.Glu1060Val)
c.2315A>T (p.Glu772Val)
n.3353-138A>T
n.3432A>T
n.3325A>T
c.3542A>T (p.Glu1181Val)
c.3467A>T (p.Glu1156Val)
c.3446A>T (p.Glu1149Val)
c.3344A>T (p.Glu1115Val)
c.2405A>T (p.Glu802Val)
n.3439-138A>T
n.3518A>T
n.3409A>T
n.3272A>T
n.3074A>T
 dbSNP
8g.144511927T>CCA372668062RECQL4c.3377A>G (p.Glu1126Gly)
c.394A>G
n.50-138A>G
c.623A>G (p.Glu208Gly)
c.2306A>G (p.Glu769Gly)
c.3452A>G (p.Glu1151Gly)
c.3356A>G (p.Glu1119Gly)
c.3260A>G (p.Glu1087Gly)
c.3254A>G (p.Glu1085Gly)
c.3179A>G (p.Glu1060Gly)
c.2315A>G (p.Glu772Gly)
n.3353-138A>G
n.3432A>G
n.3325A>G
c.3542A>G (p.Glu1181Gly)
c.3467A>G (p.Glu1156Gly)
c.3446A>G (p.Glu1149Gly)
c.3344A>G (p.Glu1115Gly)
c.2405A>G (p.Glu802Gly)
n.3439-138A>G
n.3518A>G
n.3409A>G
n.3272A>G
n.3074A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511927T>GCA187678980RECQL4c.3377A>C (p.Glu1126Ala)
c.394A>C
n.50-138A>C
c.623A>C (p.Glu208Ala)
c.2306A>C (p.Glu769Ala)
c.3452A>C (p.Glu1151Ala)
c.3356A>C (p.Glu1119Ala)
c.3260A>C (p.Glu1087Ala)
c.3254A>C (p.Glu1085Ala)
c.3179A>C (p.Glu1060Ala)
c.2315A>C (p.Glu772Ala)
n.3353-138A>C
n.3432A>C
n.3325A>C
c.3542A>C (p.Glu1181Ala)
c.3467A>C (p.Glu1156Ala)
c.3446A>C (p.Glu1149Ala)
c.3344A>C (p.Glu1115Ala)
c.2405A>C (p.Glu802Ala)
n.3439-138A>C
n.3518A>C
n.3409A>C
n.3272A>C
n.3074A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.144511927T=CA1826365463RECQL4c.3377A= (p.Glu1126=)
c.394A=
n.50-138A=
c.623A= (p.Glu208=)
c.2306A= (p.Glu769=)
c.3452A= (p.Glu1151=)
c.3356A= (p.Glu1119=)
c.3260A= (p.Glu1087=)
c.3254A= (p.Glu1085=)
c.3179A= (p.Glu1060=)
c.2315A= (p.Glu772=)
n.3353-138A=
n.3432A=
n.3325A=
c.3542A= (p.Glu1181=)
c.3467A= (p.Glu1156=)
c.3446A= (p.Glu1149=)
c.3344A= (p.Glu1115=)
c.2405A= (p.Glu802=)
n.3439-138A=
n.3518A=
n.3409A=
n.3272A=
n.3074A=
8g.144511928C>ACA372668070RECQL4c.3376G>T (p.Glu1126Ter)
c.393G>T
n.50-139G>T
c.622G>T (p.Glu208Ter)
c.2305G>T (p.Glu769Ter)
c.3451G>T (p.Glu1151Ter)
c.3355G>T (p.Glu1119Ter)
c.3259G>T (p.Glu1087Ter)
c.3253G>T (p.Glu1085Ter)
c.3178G>T (p.Glu1060Ter)
c.2314G>T (p.Glu772Ter)
n.3353-139G>T
n.3431G>T
n.3324G>T
c.3541G>T (p.Glu1181Ter)
c.3466G>T (p.Glu1156Ter)
c.3445G>T (p.Glu1149Ter)
c.3343G>T (p.Glu1115Ter)
c.2404G>T (p.Glu802Ter)
n.3439-139G>T
n.3517G>T
n.3408G>T
n.3271G>T
n.3073G>T
8g.144511928C=CA1826365464RECQL4c.3376G= (p.Glu1126=)
c.393G=
n.50-139G=
c.622G= (p.Glu208=)
c.2305G= (p.Glu769=)
c.3451G= (p.Glu1151=)
c.3355G= (p.Glu1119=)
c.3259G= (p.Glu1087=)
c.3253G= (p.Glu1085=)
c.3178G= (p.Glu1060=)
c.2314G= (p.Glu772=)
n.3353-139G=
n.3431G=
n.3324G=
c.3541G= (p.Glu1181=)
c.3466G= (p.Glu1156=)
c.3445G= (p.Glu1149=)
c.3343G= (p.Glu1115=)
c.2404G= (p.Glu802=)
n.3439-139G=
n.3517G=
n.3408G=
n.3271G=
n.3073G=
8g.144511928C>GCA372668071RECQL4c.3376G>C (p.Glu1126Gln)
c.393G>C
n.50-139G>C
c.622G>C (p.Glu208Gln)
c.2305G>C (p.Glu769Gln)
c.3451G>C (p.Glu1151Gln)
c.3355G>C (p.Glu1119Gln)
c.3259G>C (p.Glu1087Gln)
c.3253G>C (p.Glu1085Gln)
c.3178G>C (p.Glu1060Gln)
c.2314G>C (p.Glu772Gln)
n.3353-139G>C
n.3431G>C
n.3324G>C
c.3541G>C (p.Glu1181Gln)
c.3466G>C (p.Glu1156Gln)
c.3445G>C (p.Glu1149Gln)
c.3343G>C (p.Glu1115Gln)
c.2404G>C (p.Glu802Gln)
n.3439-139G>C
n.3517G>C
n.3408G>C
n.3271G>C
n.3073G>C
8g.144511928C>TCA4947796RECQL4c.3376G>A (p.Glu1126Lys)
c.393G>A
n.50-139G>A
c.622G>A (p.Glu208Lys)
c.2305G>A (p.Glu769Lys)
c.3451G>A (p.Glu1151Lys)
c.3355G>A (p.Glu1119Lys)
c.3259G>A (p.Glu1087Lys)
c.3253G>A (p.Glu1085Lys)
c.3178G>A (p.Glu1060Lys)
c.2314G>A (p.Glu772Lys)
n.3353-139G>A
n.3431G>A
n.3324G>A
c.3541G>A (p.Glu1181Lys)
c.3466G>A (p.Glu1156Lys)
c.3445G>A (p.Glu1149Lys)
c.3343G>A (p.Glu1115Lys)
c.2404G>A (p.Glu802Lys)
n.3439-139G>A
n.3517G>A
n.3408G>A
n.3271G>A
n.3073G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511928_144511929delinsCGCA1826365465RECQL4c.3375_3376delinsCG (p.Pro1125=)
c.392_393delinsCG
n.50-140_50-139delinsCG
c.621_622delinsCG (p.Pro207=)
c.2304_2305delinsCG (p.Pro768=)
c.3450_3451delinsCG (p.Pro1150=)
c.3354_3355delinsCG (p.Pro1118=)
c.3258_3259delinsCG (p.Pro1086=)
c.3252_3253delinsCG (p.Pro1084=)
c.3177_3178delinsCG (p.Pro1059=)
c.2313_2314delinsCG (p.Pro771=)
n.3353-140_3353-139delinsCG
n.3430_3431delinsCG
n.3323_3324delinsCG
c.3540_3541delinsCG (p.Pro1180=)
c.3465_3466delinsCG (p.Pro1155=)
c.3444_3445delinsCG (p.Pro1148=)
c.3342_3343delinsCG (p.Pro1114=)
c.2403_2404delinsCG (p.Pro801=)
n.3439-140_3439-139delinsCG
n.3516_3517delinsCG
n.3407_3408delinsCG
n.3270_3271delinsCG
n.3072_3073delinsCG
8g.144511929G>ACA4947798RECQL4c.3375C>T (p.Pro1125=)
c.392C>T
n.50-140C>T
c.621C>T (p.Pro207=)
c.2304C>T (p.Pro768=)
c.3450C>T (p.Pro1150=)
c.3354C>T (p.Pro1118=)
c.3258C>T (p.Pro1086=)
c.3252C>T (p.Pro1084=)
c.3177C>T (p.Pro1059=)
c.2313C>T (p.Pro771=)
n.3353-140C>T
n.3430C>T
n.3323C>T
c.3540C>T (p.Pro1180=)
c.3465C>T (p.Pro1155=)
c.3444C>T (p.Pro1148=)
c.3342C>T (p.Pro1114=)
c.2403C>T (p.Pro801=)
n.3439-140C>T
n.3516C>T
n.3407C>T
n.3270C>T
n.3072C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511929G>CCA4947797RECQL4c.3375C>G (p.Pro1125=)
c.392C>G
n.50-140C>G
c.621C>G (p.Pro207=)
c.2304C>G (p.Pro768=)
c.3450C>G (p.Pro1150=)
c.3354C>G (p.Pro1118=)
c.3258C>G (p.Pro1086=)
c.3252C>G (p.Pro1084=)
c.3177C>G (p.Pro1059=)
c.2313C>G (p.Pro771=)
n.3353-140C>G
n.3430C>G
n.3323C>G
c.3540C>G (p.Pro1180=)
c.3465C>G (p.Pro1155=)
c.3444C>G (p.Pro1148=)
c.3342C>G (p.Pro1114=)
c.2403C>G (p.Pro801=)
n.3439-140C>G
n.3516C>G
n.3407C>G
n.3270C>G
n.3072C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511929G=CA1826365466RECQL4c.3375C= (p.Pro1125=)
c.392C=
n.50-140C=
c.621C= (p.Pro207=)
c.2304C= (p.Pro768=)
c.3450C= (p.Pro1150=)
c.3354C= (p.Pro1118=)
c.3258C= (p.Pro1086=)
c.3252C= (p.Pro1084=)
c.3177C= (p.Pro1059=)
c.2313C= (p.Pro771=)
n.3353-140C=
n.3430C=
n.3323C=
c.3540C= (p.Pro1180=)
c.3465C= (p.Pro1155=)
c.3444C= (p.Pro1148=)
c.3342C= (p.Pro1114=)
c.2403C= (p.Pro801=)
n.3439-140C=
n.3516C=
n.3407C=
n.3270C=
n.3072C=
8g.144511929G>TCA463565687RECQL4c.3375C>A (p.Pro1125=)
c.392C>A
n.50-140C>A
c.621C>A (p.Pro207=)
c.2304C>A (p.Pro768=)
c.3450C>A (p.Pro1150=)
c.3354C>A (p.Pro1118=)
c.3258C>A (p.Pro1086=)
c.3252C>A (p.Pro1084=)
c.3177C>A (p.Pro1059=)
c.2313C>A (p.Pro771=)
n.3353-140C>A
n.3430C>A
n.3323C>A
c.3540C>A (p.Pro1180=)
c.3465C>A (p.Pro1155=)
c.3444C>A (p.Pro1148=)
c.3342C>A (p.Pro1114=)
c.2403C>A (p.Pro801=)
n.3439-140C>A
n.3516C>A
n.3407C>A
n.3270C>A
n.3072C>A
 ClinVar dbSNP
8g.144511932delCA848891370RECQL4c.3375del (p.Glu1126SerfsTer24)
c.392del
n.50-140del
c.621del (p.Glu208SerfsTer7)
c.2304del (p.Glu769SerfsTer24)
c.3450del (p.Glu1151SerfsTer24)
c.3354del (p.Glu1119SerfsTer24)
c.3258del (p.Glu1087SerfsTer24)
c.3252del (p.Glu1085SerfsTer24)
c.3177del (p.Glu1060SerfsTer24)
c.2313del (p.Glu772SerfsTer24)
n.3353-140del
n.3430del
n.3323del
c.3540del (p.Glu1181SerfsTer7)
c.3465del (p.Glu1156SerfsTer7)
c.3450del (p.Glu1151SerfsTer7)
c.3444del (p.Glu1149SerfsTer7)
c.3375del (p.Glu1126SerfsTer7)
c.3540del (p.Glu1181SerfsTer24)
c.3342del (p.Glu1115SerfsTer7)
c.3465del (p.Glu1156SerfsTer24)
c.3252del (p.Glu1085SerfsTer7)
c.2403del (p.Glu802SerfsTer7)
c.2313del (p.Glu772SerfsTer7)
n.3439-140del
n.3516del
n.3407del
n.3270del
n.3072del
 dbSNP gnomAD v3 gnomAD v4
8g.144511930G>ACA372668088RECQL4c.3374C>T (p.Pro1125Leu)
c.391C>T
n.50-141C>T
c.620C>T (p.Pro207Leu)
c.2303C>T (p.Pro768Leu)
c.3449C>T (p.Pro1150Leu)
c.3353C>T (p.Pro1118Leu)
c.3257C>T (p.Pro1086Leu)
c.3251C>T (p.Pro1084Leu)
c.3176C>T (p.Pro1059Leu)
c.2312C>T (p.Pro771Leu)
n.3353-141C>T
n.3429C>T
n.3322C>T
c.3539C>T (p.Pro1180Leu)
c.3464C>T (p.Pro1155Leu)
c.3443C>T (p.Pro1148Leu)
c.3341C>T (p.Pro1114Leu)
c.2402C>T (p.Pro801Leu)
n.3439-141C>T
n.3515C>T
n.3406C>T
n.3269C>T
n.3071C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511930G>CCA372668090RECQL4c.3374C>G (p.Pro1125Arg)
c.391C>G
n.50-141C>G
c.620C>G (p.Pro207Arg)
c.2303C>G (p.Pro768Arg)
c.3449C>G (p.Pro1150Arg)
c.3353C>G (p.Pro1118Arg)
c.3257C>G (p.Pro1086Arg)
c.3251C>G (p.Pro1084Arg)
c.3176C>G (p.Pro1059Arg)
c.2312C>G (p.Pro771Arg)
n.3353-141C>G
n.3429C>G
n.3322C>G
c.3539C>G (p.Pro1180Arg)
c.3464C>G (p.Pro1155Arg)
c.3443C>G (p.Pro1148Arg)
c.3341C>G (p.Pro1114Arg)
c.2402C>G (p.Pro801Arg)
n.3439-141C>G
n.3515C>G
n.3406C>G
n.3269C>G
n.3071C>G
 ClinVar gnomAD v4
8g.144511930G=CA1826365467RECQL4c.3374C= (p.Pro1125=)
c.391C=
n.50-141C=
c.620C= (p.Pro207=)
c.2303C= (p.Pro768=)
c.3449C= (p.Pro1150=)
c.3353C= (p.Pro1118=)
c.3257C= (p.Pro1086=)
c.3251C= (p.Pro1084=)
c.3176C= (p.Pro1059=)
c.2312C= (p.Pro771=)
n.3353-141C=
n.3429C=
n.3322C=
c.3539C= (p.Pro1180=)
c.3464C= (p.Pro1155=)
c.3443C= (p.Pro1148=)
c.3341C= (p.Pro1114=)
c.2402C= (p.Pro801=)
n.3439-141C=
n.3515C=
n.3406C=
n.3269C=
n.3071C=
8g.144511930G>TCA372668092RECQL4c.3374C>A (p.Pro1125His)
c.391C>A
n.50-141C>A
c.620C>A (p.Pro207His)
c.2303C>A (p.Pro768His)
c.3449C>A (p.Pro1150His)
c.3353C>A (p.Pro1118His)
c.3257C>A (p.Pro1086His)
c.3251C>A (p.Pro1084His)
c.3176C>A (p.Pro1059His)
c.2312C>A (p.Pro771His)
n.3353-141C>A
n.3429C>A
n.3322C>A
c.3539C>A (p.Pro1180His)
c.3464C>A (p.Pro1155His)
c.3443C>A (p.Pro1148His)
c.3341C>A (p.Pro1114His)
c.2402C>A (p.Pro801His)
n.3439-141C>A
n.3515C>A
n.3406C>A
n.3269C>A
n.3071C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.144511931G>ACA372668095RECQL4c.3373C>T (p.Pro1125Ser)
c.390C>T
n.50-142C>T
c.619C>T (p.Pro207Ser)
c.2302C>T (p.Pro768Ser)
c.3448C>T (p.Pro1150Ser)
c.3352C>T (p.Pro1118Ser)
c.3256C>T (p.Pro1086Ser)
c.3250C>T (p.Pro1084Ser)
c.3175C>T (p.Pro1059Ser)
c.2311C>T (p.Pro771Ser)
n.3353-142C>T
n.3428C>T
n.3321C>T
c.3538C>T (p.Pro1180Ser)
c.3463C>T (p.Pro1155Ser)
c.3442C>T (p.Pro1148Ser)
c.3340C>T (p.Pro1114Ser)
c.2401C>T (p.Pro801Ser)
n.3439-142C>T
n.3514C>T
n.3405C>T
n.3268C>T
n.3070C>T
 ClinVar dbSNP
8g.144511931G>CCA372668101RECQL4c.3373C>G (p.Pro1125Ala)
c.390C>G
n.50-142C>G
c.619C>G (p.Pro207Ala)
c.2302C>G (p.Pro768Ala)
c.3448C>G (p.Pro1150Ala)
c.3352C>G (p.Pro1118Ala)
c.3256C>G (p.Pro1086Ala)
c.3250C>G (p.Pro1084Ala)
c.3175C>G (p.Pro1059Ala)
c.2311C>G (p.Pro771Ala)
n.3353-142C>G
n.3428C>G
n.3321C>G
c.3538C>G (p.Pro1180Ala)
c.3463C>G (p.Pro1155Ala)
c.3442C>G (p.Pro1148Ala)
c.3340C>G (p.Pro1114Ala)
c.2401C>G (p.Pro801Ala)
n.3439-142C>G
n.3514C>G
n.3405C>G
n.3268C>G
n.3070C>G
 dbSNP
8g.144511931G=CA1826365468RECQL4c.3373C= (p.Pro1125=)
c.390C=
n.50-142C=
c.619C= (p.Pro207=)
c.2302C= (p.Pro768=)
c.3448C= (p.Pro1150=)
c.3352C= (p.Pro1118=)
c.3256C= (p.Pro1086=)
c.3250C= (p.Pro1084=)
c.3175C= (p.Pro1059=)
c.2311C= (p.Pro771=)
n.3353-142C=
n.3428C=
n.3321C=
c.3538C= (p.Pro1180=)
c.3463C= (p.Pro1155=)
c.3442C= (p.Pro1148=)
c.3340C= (p.Pro1114=)
c.2401C= (p.Pro801=)
n.3439-142C=
n.3514C=
n.3405C=
n.3268C=
n.3070C=
8g.144511931G>TCA372668106RECQL4c.3373C>A (p.Pro1125Thr)
c.390C>A
n.50-142C>A
c.619C>A (p.Pro207Thr)
c.2302C>A (p.Pro768Thr)
c.3448C>A (p.Pro1150Thr)
c.3352C>A (p.Pro1118Thr)
c.3256C>A (p.Pro1086Thr)
c.3250C>A (p.Pro1084Thr)
c.3175C>A (p.Pro1059Thr)
c.2311C>A (p.Pro771Thr)
n.3353-142C>A
n.3428C>A
n.3321C>A
c.3538C>A (p.Pro1180Thr)
c.3463C>A (p.Pro1155Thr)
c.3442C>A (p.Pro1148Thr)
c.3340C>A (p.Pro1114Thr)
c.2401C>A (p.Pro801Thr)
n.3439-142C>A
n.3514C>A
n.3405C>A
n.3268C>A
n.3070C>A
 ClinVar dbSNP
8g.144511932G>ACA4947799RECQL4c.3372C>T (p.Gly1124=)
c.389C>T
n.50-143C>T
c.618C>T (p.Gly206=)
c.2301C>T (p.Gly767=)
c.3447C>T (p.Gly1149=)
c.3351C>T (p.Gly1117=)
c.3255C>T (p.Gly1085=)
c.3249C>T (p.Gly1083=)
c.3174C>T (p.Gly1058=)
c.2310C>T (p.Gly770=)
n.3353-143C>T
n.3427C>T
n.3320C>T
c.3537C>T (p.Gly1179=)
c.3462C>T (p.Gly1154=)
c.3441C>T (p.Gly1147=)
c.3339C>T (p.Gly1113=)
c.2400C>T (p.Gly800=)
n.3439-143C>T
n.3513C>T
n.3404C>T
n.3267C>T
n.3069C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511932G>CCA463565820RECQL4c.3372C>G (p.Gly1124=)
c.389C>G
n.50-143C>G
c.618C>G (p.Gly206=)
c.2301C>G (p.Gly767=)
c.3447C>G (p.Gly1149=)
c.3351C>G (p.Gly1117=)
c.3255C>G (p.Gly1085=)
c.3249C>G (p.Gly1083=)
c.3174C>G (p.Gly1058=)
c.2310C>G (p.Gly770=)
n.3353-143C>G
n.3427C>G
n.3320C>G
c.3537C>G (p.Gly1179=)
c.3462C>G (p.Gly1154=)
c.3441C>G (p.Gly1147=)
c.3339C>G (p.Gly1113=)
c.2400C>G (p.Gly800=)
n.3439-143C>G
n.3513C>G
n.3404C>G
n.3267C>G
n.3069C>G
8g.144511932G=CA1826365469RECQL4c.3372C= (p.Gly1124=)
c.389C=
n.50-143C=
c.618C= (p.Gly206=)
c.2301C= (p.Gly767=)
c.3447C= (p.Gly1149=)
c.3351C= (p.Gly1117=)
c.3255C= (p.Gly1085=)
c.3249C= (p.Gly1083=)
c.3174C= (p.Gly1058=)
c.2310C= (p.Gly770=)
n.3353-143C=
n.3427C=
n.3320C=
c.3537C= (p.Gly1179=)
c.3462C= (p.Gly1154=)
c.3441C= (p.Gly1147=)
c.3339C= (p.Gly1113=)
c.2400C= (p.Gly800=)
n.3439-143C=
n.3513C=
n.3404C=
n.3267C=
n.3069C=
8g.144511932G>TCA463565819RECQL4c.3372C>A (p.Gly1124=)
c.389C>A
n.50-143C>A
c.618C>A (p.Gly206=)
c.2301C>A (p.Gly767=)
c.3447C>A (p.Gly1149=)
c.3351C>A (p.Gly1117=)
c.3255C>A (p.Gly1085=)
c.3249C>A (p.Gly1083=)
c.3174C>A (p.Gly1058=)
c.2310C>A (p.Gly770=)
n.3353-143C>A
n.3427C>A
n.3320C>A
c.3537C>A (p.Gly1179=)
c.3462C>A (p.Gly1154=)
c.3441C>A (p.Gly1147=)
c.3339C>A (p.Gly1113=)
c.2400C>A (p.Gly800=)
n.3439-143C>A
n.3513C>A
n.3404C>A
n.3267C>A
n.3069C>A
 gnomAD v4
8g.144511935_144511952delCA2740095408RECQL4c.3355_3372del (p.Met1119_Gly1124del)
c.372_389del
n.50-160_50-143del
c.601_618del (p.Met201_Gly206del)
c.2284_2301del (p.Met762_Gly767del)
c.3430_3447del (p.Met1144_Gly1149del)
c.3334_3351del (p.Met1112_Gly1117del)
c.3238_3255del (p.Met1080_Gly1085del)
c.3232_3249del (p.Met1078_Gly1083del)
c.3157_3174del (p.Met1053_Gly1058del)
c.2293_2310del (p.Met765_Gly770del)
n.3353-160_3353-143del
n.3410_3427del
n.3303_3320del
c.3520_3537del (p.Met1174_Gly1179del)
c.3445_3462del (p.Met1149_Gly1154del)
c.3424_3441del (p.Met1142_Gly1147del)
c.3322_3339del (p.Met1108_Gly1113del)
c.2383_2400del (p.Met795_Gly800del)
n.3439-160_3439-143del
n.3496_3513del
n.3387_3404del
n.3250_3267del
n.3052_3069del
 ClinVar
8g.144511933C>ACA372668110RECQL4c.3371G>T (p.Gly1124Val)
c.388G>T
n.50-144G>T
c.617G>T (p.Gly206Val)
c.2300G>T (p.Gly767Val)
c.3446G>T (p.Gly1149Val)
c.3350G>T (p.Gly1117Val)
c.3254G>T (p.Gly1085Val)
c.3248G>T (p.Gly1083Val)
c.3173G>T (p.Gly1058Val)
c.2309G>T (p.Gly770Val)
n.3353-144G>T
n.3426G>T
n.3319G>T
c.3536G>T (p.Gly1179Val)
c.3461G>T (p.Gly1154Val)
c.3440G>T (p.Gly1147Val)
c.3338G>T (p.Gly1113Val)
c.2399G>T (p.Gly800Val)
n.3439-144G>T
n.3512G>T
n.3403G>T
n.3266G>T
n.3068G>T
 dbSNP gnomAD v3 gnomAD v4
8g.144511933C=CA1826365470RECQL4c.3371G= (p.Gly1124=)
c.388G=
n.50-144G=
c.617G= (p.Gly206=)
c.2300G= (p.Gly767=)
c.3446G= (p.Gly1149=)
c.3350G= (p.Gly1117=)
c.3254G= (p.Gly1085=)
c.3248G= (p.Gly1083=)
c.3173G= (p.Gly1058=)
c.2309G= (p.Gly770=)
n.3353-144G=
n.3426G=
n.3319G=
c.3536G= (p.Gly1179=)
c.3461G= (p.Gly1154=)
c.3440G= (p.Gly1147=)
c.3338G= (p.Gly1113=)
c.2399G= (p.Gly800=)
n.3439-144G=
n.3512G=
n.3403G=
n.3266G=
n.3068G=
8g.144511933C>GCA372668114RECQL4c.3371G>C (p.Gly1124Ala)
c.388G>C
n.50-144G>C
c.617G>C (p.Gly206Ala)
c.2300G>C (p.Gly767Ala)
c.3446G>C (p.Gly1149Ala)
c.3350G>C (p.Gly1117Ala)
c.3254G>C (p.Gly1085Ala)
c.3248G>C (p.Gly1083Ala)
c.3173G>C (p.Gly1058Ala)
c.2309G>C (p.Gly770Ala)
n.3353-144G>C
n.3426G>C
n.3319G>C
c.3536G>C (p.Gly1179Ala)
c.3461G>C (p.Gly1154Ala)
c.3440G>C (p.Gly1147Ala)
c.3338G>C (p.Gly1113Ala)
c.2399G>C (p.Gly800Ala)
n.3439-144G>C
n.3512G>C
n.3403G>C
n.3266G>C
n.3068G>C
8g.144511933C>TCA372668123RECQL4c.3371G>A (p.Gly1124Asp)
c.388G>A
n.50-144G>A
c.617G>A (p.Gly206Asp)
c.2300G>A (p.Gly767Asp)
c.3446G>A (p.Gly1149Asp)
c.3350G>A (p.Gly1117Asp)
c.3254G>A (p.Gly1085Asp)
c.3248G>A (p.Gly1083Asp)
c.3173G>A (p.Gly1058Asp)
c.2309G>A (p.Gly770Asp)
n.3353-144G>A
n.3426G>A
n.3319G>A
c.3536G>A (p.Gly1179Asp)
c.3461G>A (p.Gly1154Asp)
c.3440G>A (p.Gly1147Asp)
c.3338G>A (p.Gly1113Asp)
c.2399G>A (p.Gly800Asp)
n.3439-144G>A
n.3512G>A
n.3403G>A
n.3266G>A
n.3068G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511933_144511960delinsCCCTGTGCGTCCTCCATGCCTCCCGGCTCA1826365471RECQL4c.3344_3371delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1115=)
c.361_388delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.50-171_50-144delinsAGCCGGGAGGCATGGAGGACGCACAGGG
c.590_617delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu197=)
c.2273_2300delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu758=)
c.3419_3446delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1140=)
c.3323_3350delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1108=)
c.3227_3254delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1076=)
c.3221_3248delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1074=)
c.3146_3173delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1049=)
c.2282_2309delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu761=)
n.3353-171_3353-144delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3399_3426delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3292_3319delinsAGCCGGGAGGCATGGAGGACGCACAGGG
c.3509_3536delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1170=)
c.3434_3461delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1145=)
c.3413_3440delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1138=)
c.3311_3338delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu1104=)
c.2372_2399delinsAGCCGGGAGGCATGGAGGACGCACAGGG (p.Glu791=)
n.3439-171_3439-144delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3485_3512delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3376_3403delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3239_3266delinsAGCCGGGAGGCATGGAGGACGCACAGGG
n.3041_3068delinsAGCCGGGAGGCATGGAGGACGCACAGGG
8g.144511934C>ACA372668132RECQL4c.3370G>T (p.Gly1124Cys)
c.387G>T
n.50-145G>T
c.616G>T (p.Gly206Cys)
c.2299G>T (p.Gly767Cys)
c.3445G>T (p.Gly1149Cys)
c.3349G>T (p.Gly1117Cys)
c.3253G>T (p.Gly1085Cys)
c.3247G>T (p.Gly1083Cys)
c.3172G>T (p.Gly1058Cys)
c.2308G>T (p.Gly770Cys)
n.3353-145G>T
n.3425G>T
n.3318G>T
c.3535G>T (p.Gly1179Cys)
c.3460G>T (p.Gly1154Cys)
c.3439G>T (p.Gly1147Cys)
c.3337G>T (p.Gly1113Cys)
c.2398G>T (p.Gly800Cys)
n.3439-145G>T
n.3511G>T
n.3402G>T
n.3265G>T
n.3067G>T
 gnomAD v4
8g.144511934C=CA1826365473RECQL4c.3370G= (p.Gly1124=)
c.387G=
n.50-145G=
c.616G= (p.Gly206=)
c.2299G= (p.Gly767=)
c.3445G= (p.Gly1149=)
c.3349G= (p.Gly1117=)
c.3253G= (p.Gly1085=)
c.3247G= (p.Gly1083=)
c.3172G= (p.Gly1058=)
c.2308G= (p.Gly770=)
n.3353-145G=
n.3425G=
n.3318G=
c.3535G= (p.Gly1179=)
c.3460G= (p.Gly1154=)
c.3439G= (p.Gly1147=)
c.3337G= (p.Gly1113=)
c.2398G= (p.Gly800=)
n.3439-145G=
n.3511G=
n.3402G=
n.3265G=
n.3067G=
8g.144511934C>GCA372668137RECQL4c.3370G>C (p.Gly1124Arg)
c.387G>C
n.50-145G>C
c.616G>C (p.Gly206Arg)
c.2299G>C (p.Gly767Arg)
c.3445G>C (p.Gly1149Arg)
c.3349G>C (p.Gly1117Arg)
c.3253G>C (p.Gly1085Arg)
c.3247G>C (p.Gly1083Arg)
c.3172G>C (p.Gly1058Arg)
c.2308G>C (p.Gly770Arg)
n.3353-145G>C
n.3425G>C
n.3318G>C
c.3535G>C (p.Gly1179Arg)
c.3460G>C (p.Gly1154Arg)
c.3439G>C (p.Gly1147Arg)
c.3337G>C (p.Gly1113Arg)
c.2398G>C (p.Gly800Arg)
n.3439-145G>C
n.3511G>C
n.3402G>C
n.3265G>C
n.3067G>C
8g.144511934C>TCA372668138RECQL4c.3370G>A (p.Gly1124Ser)
c.387G>A
n.50-145G>A
c.616G>A (p.Gly206Ser)
c.2299G>A (p.Gly767Ser)
c.3445G>A (p.Gly1149Ser)
c.3349G>A (p.Gly1117Ser)
c.3253G>A (p.Gly1085Ser)
c.3247G>A (p.Gly1083Ser)
c.3172G>A (p.Gly1058Ser)
c.2308G>A (p.Gly770Ser)
n.3353-145G>A
n.3425G>A
n.3318G>A
c.3535G>A (p.Gly1179Ser)
c.3460G>A (p.Gly1154Ser)
c.3439G>A (p.Gly1147Ser)
c.3337G>A (p.Gly1113Ser)
c.2398G>A (p.Gly800Ser)
n.3439-145G>A
n.3511G>A
n.3402G>A
n.3265G>A
n.3067G>A
 ClinVar dbSNP
8g.144511938_144511964delCA1826365472RECQL4c.3344_3370del (p.Glu1115_Gln1123del)
c.361_387del
n.50-171_50-145del
c.590_616del (p.Glu197_Gln205del)
c.2273_2299del (p.Glu758_Gln766del)
c.3419_3445del (p.Glu1140_Gln1148del)
c.3323_3349del (p.Glu1108_Gln1116del)
c.3227_3253del (p.Glu1076_Gln1084del)
c.3221_3247del (p.Glu1074_Gln1082del)
c.3146_3172del (p.Glu1049_Gln1057del)
c.2282_2308del (p.Glu761_Gln769del)
n.3353-171_3353-145del
n.3399_3425del
n.3292_3318del
c.3509_3535del (p.Glu1170_Gln1178del)
c.3434_3460del (p.Glu1145_Gln1153del)
c.3413_3439del (p.Glu1138_Gln1146del)
c.3311_3337del (p.Glu1104_Gln1112del)
c.2372_2398del (p.Glu791_Gln799del)
n.3439-171_3439-145del
n.3485_3511del
n.3376_3402del
n.3239_3265del
n.3041_3067del
 ClinVar dbSNP
8g.144511935C>ACA372668139RECQL4c.3369G>T (p.Gln1123His)
c.386G>T
n.50-146G>T
c.615G>T (p.Gln205His)
c.2298G>T (p.Gln766His)
c.3444G>T (p.Gln1148His)
c.3348G>T (p.Gln1116His)
c.3252G>T (p.Gln1084His)
c.3246G>T (p.Gln1082His)
c.3171G>T (p.Gln1057His)
c.2307G>T (p.Gln769His)
n.3353-146G>T
n.3424G>T
n.3317G>T
c.3534G>T (p.Gln1178His)
c.3459G>T (p.Gln1153His)
c.3438G>T (p.Gln1146His)
c.3336G>T (p.Gln1112His)
c.2397G>T (p.Gln799His)
n.3439-146G>T
n.3510G>T
n.3401G>T
n.3264G>T
n.3066G>T
 dbSNP
8g.144511935C>GCA372668141RECQL4c.3369G>C (p.Gln1123His)
c.386G>C
n.50-146G>C
c.615G>C (p.Gln205His)
c.2298G>C (p.Gln766His)
c.3444G>C (p.Gln1148His)
c.3348G>C (p.Gln1116His)
c.3252G>C (p.Gln1084His)
c.3246G>C (p.Gln1082His)
c.3171G>C (p.Gln1057His)
c.2307G>C (p.Gln769His)
n.3353-146G>C
n.3424G>C
n.3317G>C
c.3534G>C (p.Gln1178His)
c.3459G>C (p.Gln1153His)
c.3438G>C (p.Gln1146His)
c.3336G>C (p.Gln1112His)
c.2397G>C (p.Gln799His)
n.3439-146G>C
n.3510G>C
n.3401G>C
n.3264G>C
n.3066G>C
8g.144511935C>TCA463565821RECQL4c.3369G>A (p.Gln1123=)
c.386G>A
n.50-146G>A
c.615G>A (p.Gln205=)
c.2298G>A (p.Gln766=)
c.3444G>A (p.Gln1148=)
c.3348G>A (p.Gln1116=)
c.3252G>A (p.Gln1084=)
c.3246G>A (p.Gln1082=)
c.3171G>A (p.Gln1057=)
c.2307G>A (p.Gln769=)
n.3353-146G>A
n.3424G>A
n.3317G>A
c.3534G>A (p.Gln1178=)
c.3459G>A (p.Gln1153=)
c.3438G>A (p.Gln1146=)
c.3336G>A (p.Gln1112=)
c.2397G>A (p.Gln799=)
n.3439-146G>A
n.3510G>A
n.3401G>A
n.3264G>A
n.3066G>A
 ClinVar
8g.144511935_144511936delCA2689129118RECQL4c.3368_3369del (p.Gln1123ArgfsTer?)
c.385_386del
n.50-147_50-146del
c.614_615del (p.Gln205ArgfsTer?)
c.2297_2298del (p.Gln766ArgfsTer?)
c.3443_3444del (p.Gln1148ArgfsTer?)
c.3347_3348del (p.Gln1116ArgfsTer?)
c.3251_3252del (p.Gln1084ArgfsTer?)
c.3245_3246del (p.Gln1082ArgfsTer?)
c.3170_3171del (p.Gln1057ArgfsTer?)
c.2306_2307del (p.Gln769ArgfsTer?)
n.3353-147_3353-146del
n.3423_3424del
n.3316_3317del
c.3533_3534del (p.Gln1178ArgfsTer?)
c.3458_3459del (p.Gln1153ArgfsTer?)
c.3437_3438del (p.Gln1146ArgfsTer?)
c.3335_3336del (p.Gln1112ArgfsTer?)
c.2396_2397del (p.Gln799ArgfsTer?)
n.3439-147_3439-146del
n.3509_3510del
n.3400_3401del
n.3263_3264del
n.3065_3066del
 gnomAD v4
8g.144511936T>ACA372668144RECQL4c.3368A>T (p.Gln1123Leu)
c.385A>T
n.50-147A>T
c.614A>T (p.Gln205Leu)
c.2297A>T (p.Gln766Leu)
c.3443A>T (p.Gln1148Leu)
c.3347A>T (p.Gln1116Leu)
c.3251A>T (p.Gln1084Leu)
c.3245A>T (p.Gln1082Leu)
c.3170A>T (p.Gln1057Leu)
c.2306A>T (p.Gln769Leu)
n.3353-147A>T
n.3423A>T
n.3316A>T
c.3533A>T (p.Gln1178Leu)
c.3458A>T (p.Gln1153Leu)
c.3437A>T (p.Gln1146Leu)
c.3335A>T (p.Gln1112Leu)
c.2396A>T (p.Gln799Leu)
n.3439-147A>T
n.3509A>T
n.3400A>T
n.3263A>T
n.3065A>T
8g.144511936T>CCA372668146RECQL4c.3368A>G (p.Gln1123Arg)
c.385A>G
n.50-147A>G
c.614A>G (p.Gln205Arg)
c.2297A>G (p.Gln766Arg)
c.3443A>G (p.Gln1148Arg)
c.3347A>G (p.Gln1116Arg)
c.3251A>G (p.Gln1084Arg)
c.3245A>G (p.Gln1082Arg)
c.3170A>G (p.Gln1057Arg)
c.2306A>G (p.Gln769Arg)
n.3353-147A>G
n.3423A>G
n.3316A>G
c.3533A>G (p.Gln1178Arg)
c.3458A>G (p.Gln1153Arg)
c.3437A>G (p.Gln1146Arg)
c.3335A>G (p.Gln1112Arg)
c.2396A>G (p.Gln799Arg)
n.3439-147A>G
n.3509A>G
n.3400A>G
n.3263A>G
n.3065A>G
 dbSNP gnomAD v4
8g.144511936T>GCA372668150RECQL4c.3368A>C (p.Gln1123Pro)
c.385A>C
n.50-147A>C
c.614A>C (p.Gln205Pro)
c.2297A>C (p.Gln766Pro)
c.3443A>C (p.Gln1148Pro)
c.3347A>C (p.Gln1116Pro)
c.3251A>C (p.Gln1084Pro)
c.3245A>C (p.Gln1082Pro)
c.3170A>C (p.Gln1057Pro)
c.2306A>C (p.Gln769Pro)
n.3353-147A>C
n.3423A>C
n.3316A>C
c.3533A>C (p.Gln1178Pro)
c.3458A>C (p.Gln1153Pro)
c.3437A>C (p.Gln1146Pro)
c.3335A>C (p.Gln1112Pro)
c.2396A>C (p.Gln799Pro)
n.3439-147A>C
n.3509A>C
n.3400A>C
n.3263A>C
n.3065A>C
 ClinVar dbSNP
8g.144511936T=CA1826365474RECQL4c.3368A= (p.Gln1123=)
c.385A=
n.50-147A=
c.614A= (p.Gln205=)
c.2297A= (p.Gln766=)
c.3443A= (p.Gln1148=)
c.3347A= (p.Gln1116=)
c.3251A= (p.Gln1084=)
c.3245A= (p.Gln1082=)
c.3170A= (p.Gln1057=)
c.2306A= (p.Gln769=)
n.3353-147A=
n.3423A=
n.3316A=
c.3533A= (p.Gln1178=)
c.3458A= (p.Gln1153=)
c.3437A= (p.Gln1146=)
c.3335A= (p.Gln1112=)
c.2396A= (p.Gln799=)
n.3439-147A=
n.3509A=
n.3400A=
n.3263A=
n.3065A=
8g.144511938_144511939delCA2689129120RECQL4c.3367_3368del (p.Gln1123GlyfsTer?)
c.384_385del
n.50-148_50-147del
c.613_614del (p.Gln205GlyfsTer?)
c.2296_2297del (p.Gln766GlyfsTer?)
c.3442_3443del (p.Gln1148GlyfsTer?)
c.3346_3347del (p.Gln1116GlyfsTer?)
c.3250_3251del (p.Gln1084GlyfsTer?)
c.3244_3245del (p.Gln1082GlyfsTer?)
c.3169_3170del (p.Gln1057GlyfsTer?)
c.2305_2306del (p.Gln769GlyfsTer?)
n.3353-148_3353-147del
n.3422_3423del
n.3315_3316del
c.3532_3533del (p.Gln1178GlyfsTer?)
c.3457_3458del (p.Gln1153GlyfsTer?)
c.3436_3437del (p.Gln1146GlyfsTer?)
c.3334_3335del (p.Gln1112GlyfsTer?)
c.2395_2396del (p.Gln799GlyfsTer?)
n.3439-148_3439-147del
n.3508_3509del
n.3399_3400del
n.3262_3263del
n.3064_3065del
 gnomAD v4
8g.144511937G>ACA372668155RECQL4c.3367C>T (p.Gln1123Ter)
c.384C>T
n.50-148C>T
c.613C>T (p.Gln205Ter)
c.2296C>T (p.Gln766Ter)
c.3442C>T (p.Gln1148Ter)
c.3346C>T (p.Gln1116Ter)
c.3250C>T (p.Gln1084Ter)
c.3244C>T (p.Gln1082Ter)
c.3169C>T (p.Gln1057Ter)
c.2305C>T (p.Gln769Ter)
n.3353-148C>T
n.3422C>T
n.3315C>T
c.3532C>T (p.Gln1178Ter)
c.3457C>T (p.Gln1153Ter)
c.3436C>T (p.Gln1146Ter)
c.3334C>T (p.Gln1112Ter)
c.2395C>T (p.Gln799Ter)
n.3439-148C>T
n.3508C>T
n.3399C>T
n.3262C>T
n.3064C>T
 ClinVar gnomAD v4
8g.144511937G>CCA187679000RECQL4c.3367C>G (p.Gln1123Glu)
c.384C>G
n.50-148C>G
c.613C>G (p.Gln205Glu)
c.2296C>G (p.Gln766Glu)
c.3442C>G (p.Gln1148Glu)
c.3346C>G (p.Gln1116Glu)
c.3250C>G (p.Gln1084Glu)
c.3244C>G (p.Gln1082Glu)
c.3169C>G (p.Gln1057Glu)
c.2305C>G (p.Gln769Glu)
n.3353-148C>G
n.3422C>G
n.3315C>G
c.3532C>G (p.Gln1178Glu)
c.3457C>G (p.Gln1153Glu)
c.3436C>G (p.Gln1146Glu)
c.3334C>G (p.Gln1112Glu)
c.2395C>G (p.Gln799Glu)
n.3439-148C>G
n.3508C>G
n.3399C>G
n.3262C>G
n.3064C>G
 ClinVar dbSNP gnomAD v4
8g.144511937G=CA1826365475RECQL4c.3367C= (p.Gln1123=)
c.384C=
n.50-148C=
c.613C= (p.Gln205=)
c.2296C= (p.Gln766=)
c.3442C= (p.Gln1148=)
c.3346C= (p.Gln1116=)
c.3250C= (p.Gln1084=)
c.3244C= (p.Gln1082=)
c.3169C= (p.Gln1057=)
c.2305C= (p.Gln769=)
n.3353-148C=
n.3422C=
n.3315C=
c.3532C= (p.Gln1178=)
c.3457C= (p.Gln1153=)
c.3436C= (p.Gln1146=)
c.3334C= (p.Gln1112=)
c.2395C= (p.Gln799=)
n.3439-148C=
n.3508C=
n.3399C=
n.3262C=
n.3064C=
8g.144511937G>TCA372668160RECQL4c.3367C>A (p.Gln1123Lys)
c.384C>A
n.50-148C>A
c.613C>A (p.Gln205Lys)
c.2296C>A (p.Gln766Lys)
c.3442C>A (p.Gln1148Lys)
c.3346C>A (p.Gln1116Lys)
c.3250C>A (p.Gln1084Lys)
c.3244C>A (p.Gln1082Lys)
c.3169C>A (p.Gln1057Lys)
c.2305C>A (p.Gln769Lys)
n.3353-148C>A
n.3422C>A
n.3315C>A
c.3532C>A (p.Gln1178Lys)
c.3457C>A (p.Gln1153Lys)
c.3436C>A (p.Gln1146Lys)
c.3334C>A (p.Gln1112Lys)
c.2395C>A (p.Gln799Lys)
n.3439-148C>A
n.3508C>A
n.3399C>A
n.3262C>A
n.3064C>A
 gnomAD v4
8g.144511938T>ACA463565822RECQL4c.3366A>T (p.Ala1122=)
c.383A>T
n.50-149A>T
c.612A>T (p.Ala204=)
c.2295A>T (p.Ala765=)
c.3441A>T (p.Ala1147=)
c.3345A>T (p.Ala1115=)
c.3249A>T (p.Ala1083=)
c.3243A>T (p.Ala1081=)
c.3168A>T (p.Ala1056=)
c.2304A>T (p.Ala768=)
n.3353-149A>T
n.3421A>T
n.3314A>T
c.3531A>T (p.Ala1177=)
c.3456A>T (p.Ala1152=)
c.3435A>T (p.Ala1145=)
c.3333A>T (p.Ala1111=)
c.2394A>T (p.Ala798=)
n.3439-149A>T
n.3507A>T
n.3398A>T
n.3261A>T
n.3063A>T
8g.144511938T>CCA463565823RECQL4c.3366A>G (p.Ala1122=)
c.383A>G
n.50-149A>G
c.612A>G (p.Ala204=)
c.2295A>G (p.Ala765=)
c.3441A>G (p.Ala1147=)
c.3345A>G (p.Ala1115=)
c.3249A>G (p.Ala1083=)
c.3243A>G (p.Ala1081=)
c.3168A>G (p.Ala1056=)
c.2304A>G (p.Ala768=)
n.3353-149A>G
n.3421A>G
n.3314A>G
c.3531A>G (p.Ala1177=)
c.3456A>G (p.Ala1152=)
c.3435A>G (p.Ala1145=)
c.3333A>G (p.Ala1111=)
c.2394A>G (p.Ala798=)
n.3439-149A>G
n.3507A>G
n.3398A>G
n.3261A>G
n.3063A>G
 gnomAD v4
8g.144511938T>GCA463565824RECQL4c.3366A>C (p.Ala1122=)
c.383A>C
n.50-149A>C
c.612A>C (p.Ala204=)
c.2295A>C (p.Ala765=)
c.3441A>C (p.Ala1147=)
c.3345A>C (p.Ala1115=)
c.3249A>C (p.Ala1083=)
c.3243A>C (p.Ala1081=)
c.3168A>C (p.Ala1056=)
c.2304A>C (p.Ala768=)
n.3353-149A>C
n.3421A>C
n.3314A>C
c.3531A>C (p.Ala1177=)
c.3456A>C (p.Ala1152=)
c.3435A>C (p.Ala1145=)
c.3333A>C (p.Ala1111=)
c.2394A>C (p.Ala798=)
n.3439-149A>C
n.3507A>C
n.3398A>C
n.3261A>C
n.3063A>C
 ClinVar dbSNP
8g.144511939G>ACA372668176RECQL4c.3365C>T (p.Ala1122Val)
c.382C>T
n.50-150C>T
c.611C>T (p.Ala204Val)
c.2294C>T (p.Ala765Val)
c.3440C>T (p.Ala1147Val)
c.3344C>T (p.Ala1115Val)
c.3248C>T (p.Ala1083Val)
c.3242C>T (p.Ala1081Val)
c.3167C>T (p.Ala1056Val)
c.2303C>T (p.Ala768Val)
n.3353-150C>T
n.3420C>T
n.3313C>T
c.3530C>T (p.Ala1177Val)
c.3455C>T (p.Ala1152Val)
c.3434C>T (p.Ala1145Val)
c.3332C>T (p.Ala1111Val)
c.2393C>T (p.Ala798Val)
n.3439-150C>T
n.3506C>T
n.3397C>T
n.3260C>T
n.3062C>T
 dbSNP
8g.144511939G>CCA372668177RECQL4c.3365C>G (p.Ala1122Gly)
c.382C>G
n.50-150C>G
c.611C>G (p.Ala204Gly)
c.2294C>G (p.Ala765Gly)
c.3440C>G (p.Ala1147Gly)
c.3344C>G (p.Ala1115Gly)
c.3248C>G (p.Ala1083Gly)
c.3242C>G (p.Ala1081Gly)
c.3167C>G (p.Ala1056Gly)
c.2303C>G (p.Ala768Gly)
n.3353-150C>G
n.3420C>G
n.3313C>G
c.3530C>G (p.Ala1177Gly)
c.3455C>G (p.Ala1152Gly)
c.3434C>G (p.Ala1145Gly)
c.3332C>G (p.Ala1111Gly)
c.2393C>G (p.Ala798Gly)
n.3439-150C>G
n.3506C>G
n.3397C>G
n.3260C>G
n.3062C>G
8g.144511939G=CA1826365476RECQL4c.3365C= (p.Ala1122=)
c.382C=
n.50-150C=
c.611C= (p.Ala204=)
c.2294C= (p.Ala765=)
c.3440C= (p.Ala1147=)
c.3344C= (p.Ala1115=)
c.3248C= (p.Ala1083=)
c.3242C= (p.Ala1081=)
c.3167C= (p.Ala1056=)
c.2303C= (p.Ala768=)
n.3353-150C=
n.3420C=
n.3313C=
c.3530C= (p.Ala1177=)
c.3455C= (p.Ala1152=)
c.3434C= (p.Ala1145=)
c.3332C= (p.Ala1111=)
c.2393C= (p.Ala798=)
n.3439-150C=
n.3506C=
n.3397C=
n.3260C=
n.3062C=
8g.144511939G>TCA372668172RECQL4c.3365C>A (p.Ala1122Glu)
c.382C>A
n.50-150C>A
c.611C>A (p.Ala204Glu)
c.2294C>A (p.Ala765Glu)
c.3440C>A (p.Ala1147Glu)
c.3344C>A (p.Ala1115Glu)
c.3248C>A (p.Ala1083Glu)
c.3242C>A (p.Ala1081Glu)
c.3167C>A (p.Ala1056Glu)
c.2303C>A (p.Ala768Glu)
n.3353-150C>A
n.3420C>A
n.3313C>A
c.3530C>A (p.Ala1177Glu)
c.3455C>A (p.Ala1152Glu)
c.3434C>A (p.Ala1145Glu)
c.3332C>A (p.Ala1111Glu)
c.2393C>A (p.Ala798Glu)
n.3439-150C>A
n.3506C>A
n.3397C>A
n.3260C>A
n.3062C>A
 gnomAD v4
8g.144511940C>ACA372668184RECQL4c.3364G>T (p.Ala1122Ser)
c.381G>T
n.50-151G>T
c.610G>T (p.Ala204Ser)
c.2293G>T (p.Ala765Ser)
c.3439G>T (p.Ala1147Ser)
c.3343G>T (p.Ala1115Ser)
c.3247G>T (p.Ala1083Ser)
c.3241G>T (p.Ala1081Ser)
c.3166G>T (p.Ala1056Ser)
c.2302G>T (p.Ala768Ser)
n.3353-151G>T
n.3419G>T
n.3312G>T
c.3529G>T (p.Ala1177Ser)
c.3454G>T (p.Ala1152Ser)
c.3433G>T (p.Ala1145Ser)
c.3331G>T (p.Ala1111Ser)
c.2392G>T (p.Ala798Ser)
n.3439-151G>T
n.3505G>T
n.3396G>T
n.3259G>T
n.3061G>T
8g.144511940C=CA1826365477RECQL4c.3364G= (p.Ala1122=)
c.381G=
n.50-151G=
c.610G= (p.Ala204=)
c.2293G= (p.Ala765=)
c.3439G= (p.Ala1147=)
c.3343G= (p.Ala1115=)
c.3247G= (p.Ala1083=)
c.3241G= (p.Ala1081=)
c.3166G= (p.Ala1056=)
c.2302G= (p.Ala768=)
n.3353-151G=
n.3419G=
n.3312G=
c.3529G= (p.Ala1177=)
c.3454G= (p.Ala1152=)
c.3433G= (p.Ala1145=)
c.3331G= (p.Ala1111=)
c.2392G= (p.Ala798=)
n.3439-151G=
n.3505G=
n.3396G=
n.3259G=
n.3061G=
8g.144511940C>GCA372668179RECQL4c.3364G>C (p.Ala1122Pro)
c.381G>C
n.50-151G>C
c.610G>C (p.Ala204Pro)
c.2293G>C (p.Ala765Pro)
c.3439G>C (p.Ala1147Pro)
c.3343G>C (p.Ala1115Pro)
c.3247G>C (p.Ala1083Pro)
c.3241G>C (p.Ala1081Pro)
c.3166G>C (p.Ala1056Pro)
c.2302G>C (p.Ala768Pro)
n.3353-151G>C
n.3419G>C
n.3312G>C
c.3529G>C (p.Ala1177Pro)
c.3454G>C (p.Ala1152Pro)
c.3433G>C (p.Ala1145Pro)
c.3331G>C (p.Ala1111Pro)
c.2392G>C (p.Ala798Pro)
n.3439-151G>C
n.3505G>C
n.3396G>C
n.3259G>C
n.3061G>C
8g.144511940C>TCA4947800RECQL4c.3364G>A (p.Ala1122Thr)
c.381G>A
n.50-151G>A
c.610G>A (p.Ala204Thr)
c.2293G>A (p.Ala765Thr)
c.3439G>A (p.Ala1147Thr)
c.3343G>A (p.Ala1115Thr)
c.3247G>A (p.Ala1083Thr)
c.3241G>A (p.Ala1081Thr)
c.3166G>A (p.Ala1056Thr)
c.2302G>A (p.Ala768Thr)
n.3353-151G>A
n.3419G>A
n.3312G>A
c.3529G>A (p.Ala1177Thr)
c.3454G>A (p.Ala1152Thr)
c.3433G>A (p.Ala1145Thr)
c.3331G>A (p.Ala1111Thr)
c.2392G>A (p.Ala798Thr)
n.3439-151G>A
n.3505G>A
n.3396G>A
n.3259G>A
n.3061G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511941G>ACA4947801RECQL4c.3363C>T (p.Asp1121=)
c.380C>T
n.50-152C>T
c.609C>T (p.Asp203=)
c.2292C>T (p.Asp764=)
c.3438C>T (p.Asp1146=)
c.3342C>T (p.Asp1114=)
c.3246C>T (p.Asp1082=)
c.3240C>T (p.Asp1080=)
c.3165C>T (p.Asp1055=)
c.2301C>T (p.Asp767=)
n.3353-152C>T
n.3418C>T
n.3311C>T
c.3528C>T (p.Asp1176=)
c.3453C>T (p.Asp1151=)
c.3432C>T (p.Asp1144=)
c.3330C>T (p.Asp1110=)
c.2391C>T (p.Asp797=)
n.3439-152C>T
n.3504C>T
n.3395C>T
n.3258C>T
n.3060C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511941G>CCA372668193RECQL4c.3363C>G (p.Asp1121Glu)
c.380C>G
n.50-152C>G
c.609C>G (p.Asp203Glu)
c.2292C>G (p.Asp764Glu)
c.3438C>G (p.Asp1146Glu)
c.3342C>G (p.Asp1114Glu)
c.3246C>G (p.Asp1082Glu)
c.3240C>G (p.Asp1080Glu)
c.3165C>G (p.Asp1055Glu)
c.2301C>G (p.Asp767Glu)
n.3353-152C>G
n.3418C>G
n.3311C>G
c.3528C>G (p.Asp1176Glu)
c.3453C>G (p.Asp1151Glu)
c.3432C>G (p.Asp1144Glu)
c.3330C>G (p.Asp1110Glu)
c.2391C>G (p.Asp797Glu)
n.3439-152C>G
n.3504C>G
n.3395C>G
n.3258C>G
n.3060C>G
8g.144511941G=CA1826365478RECQL4c.3363C= (p.Asp1121=)
c.380C=
n.50-152C=
c.609C= (p.Asp203=)
c.2292C= (p.Asp764=)
c.3438C= (p.Asp1146=)
c.3342C= (p.Asp1114=)
c.3246C= (p.Asp1082=)
c.3240C= (p.Asp1080=)
c.3165C= (p.Asp1055=)
c.2301C= (p.Asp767=)
n.3353-152C=
n.3418C=
n.3311C=
c.3528C= (p.Asp1176=)
c.3453C= (p.Asp1151=)
c.3432C= (p.Asp1144=)
c.3330C= (p.Asp1110=)
c.2391C= (p.Asp797=)
n.3439-152C=
n.3504C=
n.3395C=
n.3258C=
n.3060C=
8g.144511941G>TCA4947802RECQL4c.3363C>A (p.Asp1121Glu)
c.380C>A
n.50-152C>A
c.609C>A (p.Asp203Glu)
c.2292C>A (p.Asp764Glu)
c.3438C>A (p.Asp1146Glu)
c.3342C>A (p.Asp1114Glu)
c.3246C>A (p.Asp1082Glu)
c.3240C>A (p.Asp1080Glu)
c.3165C>A (p.Asp1055Glu)
c.2301C>A (p.Asp767Glu)
n.3353-152C>A
n.3418C>A
n.3311C>A
c.3528C>A (p.Asp1176Glu)
c.3453C>A (p.Asp1151Glu)
c.3432C>A (p.Asp1144Glu)
c.3330C>A (p.Asp1110Glu)
c.2391C>A (p.Asp797Glu)
n.3439-152C>A
n.3504C>A
n.3395C>A
n.3258C>A
n.3060C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511942T>ACA372668209RECQL4c.3362A>T (p.Asp1121Val)
c.379A>T
n.50-153A>T
c.608A>T (p.Asp203Val)
c.2291A>T (p.Asp764Val)
c.3437A>T (p.Asp1146Val)
c.3341A>T (p.Asp1114Val)
c.3245A>T (p.Asp1082Val)
c.3239A>T (p.Asp1080Val)
c.3164A>T (p.Asp1055Val)
c.2300A>T (p.Asp767Val)
n.3353-153A>T
n.3417A>T
n.3310A>T
c.3527A>T (p.Asp1176Val)
c.3452A>T (p.Asp1151Val)
c.3431A>T (p.Asp1144Val)
c.3329A>T (p.Asp1110Val)
c.2390A>T (p.Asp797Val)
n.3439-153A>T
n.3503A>T
n.3394A>T
n.3257A>T
n.3059A>T
8g.144511942T>CCA372668212RECQL4c.3362A>G (p.Asp1121Gly)
c.379A>G
n.50-153A>G
c.608A>G (p.Asp203Gly)
c.2291A>G (p.Asp764Gly)
c.3437A>G (p.Asp1146Gly)
c.3341A>G (p.Asp1114Gly)
c.3245A>G (p.Asp1082Gly)
c.3239A>G (p.Asp1080Gly)
c.3164A>G (p.Asp1055Gly)
c.2300A>G (p.Asp767Gly)
n.3353-153A>G
n.3417A>G
n.3310A>G
c.3527A>G (p.Asp1176Gly)
c.3452A>G (p.Asp1151Gly)
c.3431A>G (p.Asp1144Gly)
c.3329A>G (p.Asp1110Gly)
c.2390A>G (p.Asp797Gly)
n.3439-153A>G
n.3503A>G
n.3394A>G
n.3257A>G
n.3059A>G
8g.144511942T>GCA372668213RECQL4c.3362A>C (p.Asp1121Ala)
c.379A>C
n.50-153A>C
c.608A>C (p.Asp203Ala)
c.2291A>C (p.Asp764Ala)
c.3437A>C (p.Asp1146Ala)
c.3341A>C (p.Asp1114Ala)
c.3245A>C (p.Asp1082Ala)
c.3239A>C (p.Asp1080Ala)
c.3164A>C (p.Asp1055Ala)
c.2300A>C (p.Asp767Ala)
n.3353-153A>C
n.3417A>C
n.3310A>C
c.3527A>C (p.Asp1176Ala)
c.3452A>C (p.Asp1151Ala)
c.3431A>C (p.Asp1144Ala)
c.3329A>C (p.Asp1110Ala)
c.2390A>C (p.Asp797Ala)
n.3439-153A>C
n.3503A>C
n.3394A>C
n.3257A>C
n.3059A>C
8g.144511943C>ACA372668214RECQL4c.3361G>T (p.Asp1121Tyr)
c.378G>T
n.50-154G>T
c.607G>T (p.Asp203Tyr)
c.2290G>T (p.Asp764Tyr)
c.3436G>T (p.Asp1146Tyr)
c.3340G>T (p.Asp1114Tyr)
c.3244G>T (p.Asp1082Tyr)
c.3238G>T (p.Asp1080Tyr)
c.3163G>T (p.Asp1055Tyr)
c.2299G>T (p.Asp767Tyr)
n.3353-154G>T
n.3416G>T
n.3309G>T
c.3526G>T (p.Asp1176Tyr)
c.3451G>T (p.Asp1151Tyr)
c.3430G>T (p.Asp1144Tyr)
c.3328G>T (p.Asp1110Tyr)
c.2389G>T (p.Asp797Tyr)
n.3439-154G>T
n.3502G>T
n.3393G>T
n.3256G>T
n.3058G>T
8g.144511943C=CA1826365479RECQL4c.3361G= (p.Asp1121=)
c.378G=
n.50-154G=
c.607G= (p.Asp203=)
c.2290G= (p.Asp764=)
c.3436G= (p.Asp1146=)
c.3340G= (p.Asp1114=)
c.3244G= (p.Asp1082=)
c.3238G= (p.Asp1080=)
c.3163G= (p.Asp1055=)
c.2299G= (p.Asp767=)
n.3353-154G=
n.3416G=
n.3309G=
c.3526G= (p.Asp1176=)
c.3451G= (p.Asp1151=)
c.3430G= (p.Asp1144=)
c.3328G= (p.Asp1110=)
c.2389G= (p.Asp797=)
n.3439-154G=
n.3502G=
n.3393G=
n.3256G=
n.3058G=
8g.144511943C>GCA372668215RECQL4c.3361G>C (p.Asp1121His)
c.378G>C
n.50-154G>C
c.607G>C (p.Asp203His)
c.2290G>C (p.Asp764His)
c.3436G>C (p.Asp1146His)
c.3340G>C (p.Asp1114His)
c.3244G>C (p.Asp1082His)
c.3238G>C (p.Asp1080His)
c.3163G>C (p.Asp1055His)
c.2299G>C (p.Asp767His)
n.3353-154G>C
n.3416G>C
n.3309G>C
c.3526G>C (p.Asp1176His)
c.3451G>C (p.Asp1151His)
c.3430G>C (p.Asp1144His)
c.3328G>C (p.Asp1110His)
c.2389G>C (p.Asp797His)
n.3439-154G>C
n.3502G>C
n.3393G>C
n.3256G>C
n.3058G>C
 dbSNP
8g.144511943C>TCA4947803RECQL4c.3361G>A (p.Asp1121Asn)
c.378G>A
n.50-154G>A
c.607G>A (p.Asp203Asn)
c.2290G>A (p.Asp764Asn)
c.3436G>A (p.Asp1146Asn)
c.3340G>A (p.Asp1114Asn)
c.3244G>A (p.Asp1082Asn)
c.3238G>A (p.Asp1080Asn)
c.3163G>A (p.Asp1055Asn)
c.2299G>A (p.Asp767Asn)
n.3353-154G>A
n.3416G>A
n.3309G>A
c.3526G>A (p.Asp1176Asn)
c.3451G>A (p.Asp1151Asn)
c.3430G>A (p.Asp1144Asn)
c.3328G>A (p.Asp1110Asn)
c.2389G>A (p.Asp797Asn)
n.3439-154G>A
n.3502G>A
n.3393G>A
n.3256G>A
n.3058G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511948_144511955delCA2718730614RECQL4c.3354_3361del (p.Met1119ArgfsTer?)
c.371_378del
n.50-161_50-154del
c.600_607del (p.Met201ArgfsTer?)
c.2283_2290del (p.Met762ArgfsTer?)
c.3429_3436del (p.Met1144ArgfsTer?)
c.3333_3340del (p.Met1112ArgfsTer?)
c.3237_3244del (p.Met1080ArgfsTer?)
c.3231_3238del (p.Met1078ArgfsTer?)
c.3156_3163del (p.Met1053ArgfsTer?)
c.2292_2299del (p.Met765ArgfsTer?)
n.3353-161_3353-154del
n.3409_3416del
n.3302_3309del
c.3519_3526del (p.Met1174ArgfsTer?)
c.3444_3451del (p.Met1149ArgfsTer?)
c.3423_3430del (p.Met1142ArgfsTer?)
c.3321_3328del (p.Met1108ArgfsTer?)
c.2382_2389del (p.Met795ArgfsTer?)
n.3439-161_3439-154del
n.3495_3502del
n.3386_3393del
n.3249_3256del
n.3051_3058del
 dbSNP
8g.144511944C>ACA372668218RECQL4c.3360G>T (p.Glu1120Asp)
c.377G>T
n.50-155G>T
c.606G>T (p.Glu202Asp)
c.2289G>T (p.Glu763Asp)
c.3435G>T (p.Glu1145Asp)
c.3339G>T (p.Glu1113Asp)
c.3243G>T (p.Glu1081Asp)
c.3237G>T (p.Glu1079Asp)
c.3162G>T (p.Glu1054Asp)
c.2298G>T (p.Glu766Asp)
n.3353-155G>T
n.3415G>T
n.3308G>T
c.3525G>T (p.Glu1175Asp)
c.3450G>T (p.Glu1150Asp)
c.3429G>T (p.Glu1143Asp)
c.3327G>T (p.Glu1109Asp)
c.2388G>T (p.Glu796Asp)
n.3439-155G>T
n.3501G>T
n.3392G>T
n.3255G>T
n.3057G>T
8g.144511944C=CA1826365480RECQL4c.3360G= (p.Glu1120=)
c.377G=
n.50-155G=
c.606G= (p.Glu202=)
c.2289G= (p.Glu763=)
c.3435G= (p.Glu1145=)
c.3339G= (p.Glu1113=)
c.3243G= (p.Glu1081=)
c.3237G= (p.Glu1079=)
c.3162G= (p.Glu1054=)
c.2298G= (p.Glu766=)
n.3353-155G=
n.3415G=
n.3308G=
c.3525G= (p.Glu1175=)
c.3450G= (p.Glu1150=)
c.3429G= (p.Glu1143=)
c.3327G= (p.Glu1109=)
c.2388G= (p.Glu796=)
n.3439-155G=
n.3501G=
n.3392G=
n.3255G=
n.3057G=
8g.144511944C>GCA4947804RECQL4c.3360G>C (p.Glu1120Asp)
c.377G>C
n.50-155G>C
c.606G>C (p.Glu202Asp)
c.2289G>C (p.Glu763Asp)
c.3435G>C (p.Glu1145Asp)
c.3339G>C (p.Glu1113Asp)
c.3243G>C (p.Glu1081Asp)
c.3237G>C (p.Glu1079Asp)
c.3162G>C (p.Glu1054Asp)
c.2298G>C (p.Glu766Asp)
n.3353-155G>C
n.3415G>C
n.3308G>C
c.3525G>C (p.Glu1175Asp)
c.3450G>C (p.Glu1150Asp)
c.3429G>C (p.Glu1143Asp)
c.3327G>C (p.Glu1109Asp)
c.2388G>C (p.Glu796Asp)
n.3439-155G>C
n.3501G>C
n.3392G>C
n.3255G>C
n.3057G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511944C>TCA463565825RECQL4c.3360G>A (p.Glu1120=)
c.377G>A
n.50-155G>A
c.606G>A (p.Glu202=)
c.2289G>A (p.Glu763=)
c.3435G>A (p.Glu1145=)
c.3339G>A (p.Glu1113=)
c.3243G>A (p.Glu1081=)
c.3237G>A (p.Glu1079=)
c.3162G>A (p.Glu1054=)
c.2298G>A (p.Glu766=)
n.3353-155G>A
n.3415G>A
n.3308G>A
c.3525G>A (p.Glu1175=)
c.3450G>A (p.Glu1150=)
c.3429G>A (p.Glu1143=)
c.3327G>A (p.Glu1109=)
c.2388G>A (p.Glu796=)
n.3439-155G>A
n.3501G>A
n.3392G>A
n.3255G>A
n.3057G>A
 ClinVar dbSNP gnomAD v4
8g.144511945T>ACA372668229RECQL4c.3359A>T (p.Glu1120Val)
c.376A>T
n.50-156A>T
c.605A>T (p.Glu202Val)
c.2288A>T (p.Glu763Val)
c.3434A>T (p.Glu1145Val)
c.3338A>T (p.Glu1113Val)
c.3242A>T (p.Glu1081Val)
c.3236A>T (p.Glu1079Val)
c.3161A>T (p.Glu1054Val)
c.2297A>T (p.Glu766Val)
n.3353-156A>T
n.3414A>T
n.3307A>T
c.3524A>T (p.Glu1175Val)
c.3449A>T (p.Glu1150Val)
c.3428A>T (p.Glu1143Val)
c.3326A>T (p.Glu1109Val)
c.2387A>T (p.Glu796Val)
n.3439-156A>T
n.3500A>T
n.3391A>T
n.3254A>T
n.3056A>T
8g.144511945T>CCA372668222RECQL4c.3359A>G (p.Glu1120Gly)
c.376A>G
n.50-156A>G
c.605A>G (p.Glu202Gly)
c.2288A>G (p.Glu763Gly)
c.3434A>G (p.Glu1145Gly)
c.3338A>G (p.Glu1113Gly)
c.3242A>G (p.Glu1081Gly)
c.3236A>G (p.Glu1079Gly)
c.3161A>G (p.Glu1054Gly)
c.2297A>G (p.Glu766Gly)
n.3353-156A>G
n.3414A>G
n.3307A>G
c.3524A>G (p.Glu1175Gly)
c.3449A>G (p.Glu1150Gly)
c.3428A>G (p.Glu1143Gly)
c.3326A>G (p.Glu1109Gly)
c.2387A>G (p.Glu796Gly)
n.3439-156A>G
n.3500A>G
n.3391A>G
n.3254A>G
n.3056A>G
8g.144511945T>GCA372668224RECQL4c.3359A>C (p.Glu1120Ala)
c.376A>C
n.50-156A>C
c.605A>C (p.Glu202Ala)
c.2288A>C (p.Glu763Ala)
c.3434A>C (p.Glu1145Ala)
c.3338A>C (p.Glu1113Ala)
c.3242A>C (p.Glu1081Ala)
c.3236A>C (p.Glu1079Ala)
c.3161A>C (p.Glu1054Ala)
c.2297A>C (p.Glu766Ala)
n.3353-156A>C
n.3414A>C
n.3307A>C
c.3524A>C (p.Glu1175Ala)
c.3449A>C (p.Glu1150Ala)
c.3428A>C (p.Glu1143Ala)
c.3326A>C (p.Glu1109Ala)
c.2387A>C (p.Glu796Ala)
n.3439-156A>C
n.3500A>C
n.3391A>C
n.3254A>C
n.3056A>C
8g.144511946C>ACA372668242RECQL4c.3358G>T (p.Glu1120Ter)
c.375G>T
n.50-157G>T
c.604G>T (p.Glu202Ter)
c.2287G>T (p.Glu763Ter)
c.3433G>T (p.Glu1145Ter)
c.3337G>T (p.Glu1113Ter)
c.3241G>T (p.Glu1081Ter)
c.3235G>T (p.Glu1079Ter)
c.3160G>T (p.Glu1054Ter)
c.2296G>T (p.Glu766Ter)
n.3353-157G>T
n.3413G>T
n.3306G>T
c.3523G>T (p.Glu1175Ter)
c.3448G>T (p.Glu1150Ter)
c.3427G>T (p.Glu1143Ter)
c.3325G>T (p.Glu1109Ter)
c.2386G>T (p.Glu796Ter)
n.3439-157G>T
n.3499G>T
n.3390G>T
n.3253G>T
n.3055G>T
8g.144511946C=CA1826365481RECQL4c.3358G= (p.Glu1120=)
c.375G=
n.50-157G=
c.604G= (p.Glu202=)
c.2287G= (p.Glu763=)
c.3433G= (p.Glu1145=)
c.3337G= (p.Glu1113=)
c.3241G= (p.Glu1081=)
c.3235G= (p.Glu1079=)
c.3160G= (p.Glu1054=)
c.2296G= (p.Glu766=)
n.3353-157G=
n.3413G=
n.3306G=
c.3523G= (p.Glu1175=)
c.3448G= (p.Glu1150=)
c.3427G= (p.Glu1143=)
c.3325G= (p.Glu1109=)
c.2386G= (p.Glu796=)
n.3439-157G=
n.3499G=
n.3390G=
n.3253G=
n.3055G=
8g.144511946C>GCA372668248RECQL4c.3358G>C (p.Glu1120Gln)
c.375G>C
n.50-157G>C
c.604G>C (p.Glu202Gln)
c.2287G>C (p.Glu763Gln)
c.3433G>C (p.Glu1145Gln)
c.3337G>C (p.Glu1113Gln)
c.3241G>C (p.Glu1081Gln)
c.3235G>C (p.Glu1079Gln)
c.3160G>C (p.Glu1054Gln)
c.2296G>C (p.Glu766Gln)
n.3353-157G>C
n.3413G>C
n.3306G>C
c.3523G>C (p.Glu1175Gln)
c.3448G>C (p.Glu1150Gln)
c.3427G>C (p.Glu1143Gln)
c.3325G>C (p.Glu1109Gln)
c.2386G>C (p.Glu796Gln)
n.3439-157G>C
n.3499G>C
n.3390G>C
n.3253G>C
n.3055G>C
 dbSNP gnomAD v2
8g.144511946C>TCA4947805RECQL4c.3358G>A (p.Glu1120Lys)
c.375G>A
n.50-157G>A
c.604G>A (p.Glu202Lys)
c.2287G>A (p.Glu763Lys)
c.3433G>A (p.Glu1145Lys)
c.3337G>A (p.Glu1113Lys)
c.3241G>A (p.Glu1081Lys)
c.3235G>A (p.Glu1079Lys)
c.3160G>A (p.Glu1054Lys)
c.2296G>A (p.Glu766Lys)
n.3353-157G>A
n.3413G>A
n.3306G>A
c.3523G>A (p.Glu1175Lys)
c.3448G>A (p.Glu1150Lys)
c.3427G>A (p.Glu1143Lys)
c.3325G>A (p.Glu1109Lys)
c.2386G>A (p.Glu796Lys)
n.3439-157G>A
n.3499G>A
n.3390G>A
n.3253G>A
n.3055G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511947C>ACA372668254RECQL4c.3357G>T (p.Met1119Ile)
c.374G>T
n.50-158G>T
c.603G>T (p.Met201Ile)
c.2286G>T (p.Met762Ile)
c.3432G>T (p.Met1144Ile)
c.3336G>T (p.Met1112Ile)
c.3240G>T (p.Met1080Ile)
c.3234G>T (p.Met1078Ile)
c.3159G>T (p.Met1053Ile)
c.2295G>T (p.Met765Ile)
n.3353-158G>T
n.3412G>T
n.3305G>T
c.3522G>T (p.Met1174Ile)
c.3447G>T (p.Met1149Ile)
c.3426G>T (p.Met1142Ile)
c.3324G>T (p.Met1108Ile)
c.2385G>T (p.Met795Ile)
n.3439-158G>T
n.3498G>T
n.3389G>T
n.3252G>T
n.3054G>T
8g.144511947C=CA1826365482RECQL4c.3357G= (p.Met1119=)
c.374G=
n.50-158G=
c.603G= (p.Met201=)
c.2286G= (p.Met762=)
c.3432G= (p.Met1144=)
c.3336G= (p.Met1112=)
c.3240G= (p.Met1080=)
c.3234G= (p.Met1078=)
c.3159G= (p.Met1053=)
c.2295G= (p.Met765=)
n.3353-158G=
n.3412G=
n.3305G=
c.3522G= (p.Met1174=)
c.3447G= (p.Met1149=)
c.3426G= (p.Met1142=)
c.3324G= (p.Met1108=)
c.2385G= (p.Met795=)
n.3439-158G=
n.3498G=
n.3389G=
n.3252G=
n.3054G=
8g.144511947C>GCA372668264RECQL4c.3357G>C (p.Met1119Ile)
c.374G>C
n.50-158G>C
c.603G>C (p.Met201Ile)
c.2286G>C (p.Met762Ile)
c.3432G>C (p.Met1144Ile)
c.3336G>C (p.Met1112Ile)
c.3240G>C (p.Met1080Ile)
c.3234G>C (p.Met1078Ile)
c.3159G>C (p.Met1053Ile)
c.2295G>C (p.Met765Ile)
n.3353-158G>C
n.3412G>C
n.3305G>C
c.3522G>C (p.Met1174Ile)
c.3447G>C (p.Met1149Ile)
c.3426G>C (p.Met1142Ile)
c.3324G>C (p.Met1108Ile)
c.2385G>C (p.Met795Ile)
n.3439-158G>C
n.3498G>C
n.3389G>C
n.3252G>C
n.3054G>C
8g.144511947C>TCA4947806RECQL4c.3357G>A (p.Met1119Ile)
c.374G>A
n.50-158G>A
c.603G>A (p.Met201Ile)
c.2286G>A (p.Met762Ile)
c.3432G>A (p.Met1144Ile)
c.3336G>A (p.Met1112Ile)
c.3240G>A (p.Met1080Ile)
c.3234G>A (p.Met1078Ile)
c.3159G>A (p.Met1053Ile)
c.2295G>A (p.Met765Ile)
n.3353-158G>A
n.3412G>A
n.3305G>A
c.3522G>A (p.Met1174Ile)
c.3447G>A (p.Met1149Ile)
c.3426G>A (p.Met1142Ile)
c.3324G>A (p.Met1108Ile)
c.2385G>A (p.Met795Ile)
n.3439-158G>A
n.3498G>A
n.3389G>A
n.3252G>A
n.3054G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511948A=CA1826365483RECQL4c.3356T= (p.Met1119=)
c.373T=
n.50-159T=
c.602T= (p.Met201=)
c.2285T= (p.Met762=)
c.3431T= (p.Met1144=)
c.3335T= (p.Met1112=)
c.3239T= (p.Met1080=)
c.3233T= (p.Met1078=)
c.3158T= (p.Met1053=)
c.2294T= (p.Met765=)
n.3353-159T=
n.3411T=
n.3304T=
c.3521T= (p.Met1174=)
c.3446T= (p.Met1149=)
c.3425T= (p.Met1142=)
c.3323T= (p.Met1108=)
c.2384T= (p.Met795=)
n.3439-159T=
n.3497T=
n.3388T=
n.3251T=
n.3053T=
8g.144511948A>CCA372668287RECQL4c.3356T>G (p.Met1119Arg)
c.373T>G
n.50-159T>G
c.602T>G (p.Met201Arg)
c.2285T>G (p.Met762Arg)
c.3431T>G (p.Met1144Arg)
c.3335T>G (p.Met1112Arg)
c.3239T>G (p.Met1080Arg)
c.3233T>G (p.Met1078Arg)
c.3158T>G (p.Met1053Arg)
c.2294T>G (p.Met765Arg)
n.3353-159T>G
n.3411T>G
n.3304T>G
c.3521T>G (p.Met1174Arg)
c.3446T>G (p.Met1149Arg)
c.3425T>G (p.Met1142Arg)
c.3323T>G (p.Met1108Arg)
c.2384T>G (p.Met795Arg)
n.3439-159T>G
n.3497T>G
n.3388T>G
n.3251T>G
n.3053T>G
 dbSNP
8g.144511948A>GCA4947807RECQL4c.3356T>C (p.Met1119Thr)
c.373T>C
n.50-159T>C
c.602T>C (p.Met201Thr)
c.2285T>C (p.Met762Thr)
c.3431T>C (p.Met1144Thr)
c.3335T>C (p.Met1112Thr)
c.3239T>C (p.Met1080Thr)
c.3233T>C (p.Met1078Thr)
c.3158T>C (p.Met1053Thr)
c.2294T>C (p.Met765Thr)
n.3353-159T>C
n.3411T>C
n.3304T>C
c.3521T>C (p.Met1174Thr)
c.3446T>C (p.Met1149Thr)
c.3425T>C (p.Met1142Thr)
c.3323T>C (p.Met1108Thr)
c.2384T>C (p.Met795Thr)
n.3439-159T>C
n.3497T>C
n.3388T>C
n.3251T>C
n.3053T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511948A>TCA372668298RECQL4c.3356T>A (p.Met1119Lys)
c.373T>A
n.50-159T>A
c.602T>A (p.Met201Lys)
c.2285T>A (p.Met762Lys)
c.3431T>A (p.Met1144Lys)
c.3335T>A (p.Met1112Lys)
c.3239T>A (p.Met1080Lys)
c.3233T>A (p.Met1078Lys)
c.3158T>A (p.Met1053Lys)
c.2294T>A (p.Met765Lys)
n.3353-159T>A
n.3411T>A
n.3304T>A
c.3521T>A (p.Met1174Lys)
c.3446T>A (p.Met1149Lys)
c.3425T>A (p.Met1142Lys)
c.3323T>A (p.Met1108Lys)
c.2384T>A (p.Met795Lys)
n.3439-159T>A
n.3497T>A
n.3388T>A
n.3251T>A
n.3053T>A
8g.144511949T>ACA372668302RECQL4c.3355A>T (p.Met1119Leu)
c.372A>T
n.50-160A>T
c.601A>T (p.Met201Leu)
c.2284A>T (p.Met762Leu)
c.3430A>T (p.Met1144Leu)
c.3334A>T (p.Met1112Leu)
c.3238A>T (p.Met1080Leu)
c.3232A>T (p.Met1078Leu)
c.3157A>T (p.Met1053Leu)
c.2293A>T (p.Met765Leu)
n.3353-160A>T
n.3410A>T
n.3303A>T
c.3520A>T (p.Met1174Leu)
c.3445A>T (p.Met1149Leu)
c.3424A>T (p.Met1142Leu)
c.3322A>T (p.Met1108Leu)
c.2383A>T (p.Met795Leu)
n.3439-160A>T
n.3496A>T
n.3387A>T
n.3250A>T
n.3052A>T
 ClinVar dbSNP
8g.144511949T>CCA372668329RECQL4c.3355A>G (p.Met1119Val)
c.372A>G
n.50-160A>G
c.601A>G (p.Met201Val)
c.2284A>G (p.Met762Val)
c.3430A>G (p.Met1144Val)
c.3334A>G (p.Met1112Val)
c.3238A>G (p.Met1080Val)
c.3232A>G (p.Met1078Val)
c.3157A>G (p.Met1053Val)
c.2293A>G (p.Met765Val)
n.3353-160A>G
n.3410A>G
n.3303A>G
c.3520A>G (p.Met1174Val)
c.3445A>G (p.Met1149Val)
c.3424A>G (p.Met1142Val)
c.3322A>G (p.Met1108Val)
c.2383A>G (p.Met795Val)
n.3439-160A>G
n.3496A>G
n.3387A>G
n.3250A>G
n.3052A>G
8g.144511949T>GCA372668333RECQL4c.3355A>C (p.Met1119Leu)
c.372A>C
n.50-160A>C
c.601A>C (p.Met201Leu)
c.2284A>C (p.Met762Leu)
c.3430A>C (p.Met1144Leu)
c.3334A>C (p.Met1112Leu)
c.3238A>C (p.Met1080Leu)
c.3232A>C (p.Met1078Leu)
c.3157A>C (p.Met1053Leu)
c.2293A>C (p.Met765Leu)
n.3353-160A>C
n.3410A>C
n.3303A>C
c.3520A>C (p.Met1174Leu)
c.3445A>C (p.Met1149Leu)
c.3424A>C (p.Met1142Leu)
c.3322A>C (p.Met1108Leu)
c.2383A>C (p.Met795Leu)
n.3439-160A>C
n.3496A>C
n.3387A>C
n.3250A>C
n.3052A>C
8g.144511950G>ACA463565830RECQL4c.3354C>T (p.Gly1118=)
c.371C>T
n.50-161C>T
c.600C>T (p.Gly200=)
c.2283C>T (p.Gly761=)
c.3429C>T (p.Gly1143=)
c.3333C>T (p.Gly1111=)
c.3237C>T (p.Gly1079=)
c.3231C>T (p.Gly1077=)
c.3156C>T (p.Gly1052=)
c.2292C>T (p.Gly764=)
n.3353-161C>T
n.3409C>T
n.3302C>T
c.3519C>T (p.Gly1173=)
c.3444C>T (p.Gly1148=)
c.3423C>T (p.Gly1141=)
c.3321C>T (p.Gly1107=)
c.2382C>T (p.Gly794=)
n.3439-161C>T
n.3495C>T
n.3386C>T
n.3249C>T
n.3051C>T
 dbSNP
8g.144511950G>CCA463565829RECQL4c.3354C>G (p.Gly1118=)
c.371C>G
n.50-161C>G
c.600C>G (p.Gly200=)
c.2283C>G (p.Gly761=)
c.3429C>G (p.Gly1143=)
c.3333C>G (p.Gly1111=)
c.3237C>G (p.Gly1079=)
c.3231C>G (p.Gly1077=)
c.3156C>G (p.Gly1052=)
c.2292C>G (p.Gly764=)
n.3353-161C>G
n.3409C>G
n.3302C>G
c.3519C>G (p.Gly1173=)
c.3444C>G (p.Gly1148=)
c.3423C>G (p.Gly1141=)
c.3321C>G (p.Gly1107=)
c.2382C>G (p.Gly794=)
n.3439-161C>G
n.3495C>G
n.3386C>G
n.3249C>G
n.3051C>G
8g.144511950G>TCA463565831RECQL4c.3354C>A (p.Gly1118=)
c.371C>A
n.50-161C>A
c.600C>A (p.Gly200=)
c.2283C>A (p.Gly761=)
c.3429C>A (p.Gly1143=)
c.3333C>A (p.Gly1111=)
c.3237C>A (p.Gly1079=)
c.3231C>A (p.Gly1077=)
c.3156C>A (p.Gly1052=)
c.2292C>A (p.Gly764=)
n.3353-161C>A
n.3409C>A
n.3302C>A
c.3519C>A (p.Gly1173=)
c.3444C>A (p.Gly1148=)
c.3423C>A (p.Gly1141=)
c.3321C>A (p.Gly1107=)
c.2382C>A (p.Gly794=)
n.3439-161C>A
n.3495C>A
n.3386C>A
n.3249C>A
n.3051C>A
8g.144511951C>ACA372668353RECQL4c.3353G>T (p.Gly1118Val)
c.370G>T
n.50-162G>T
c.599G>T (p.Gly200Val)
c.2282G>T (p.Gly761Val)
c.3428G>T (p.Gly1143Val)
c.3332G>T (p.Gly1111Val)
c.3236G>T (p.Gly1079Val)
c.3230G>T (p.Gly1077Val)
c.3155G>T (p.Gly1052Val)
c.2291G>T (p.Gly764Val)
n.3353-162G>T
n.3408G>T
n.3301G>T
c.3518G>T (p.Gly1173Val)
c.3443G>T (p.Gly1148Val)
c.3422G>T (p.Gly1141Val)
c.3320G>T (p.Gly1107Val)
c.2381G>T (p.Gly794Val)
n.3439-162G>T
n.3494G>T
n.3385G>T
n.3248G>T
n.3050G>T
 ClinVar dbSNP
8g.144511951C=CA1826365484RECQL4c.3353G= (p.Gly1118=)
c.370G=
n.50-162G=
c.599G= (p.Gly200=)
c.2282G= (p.Gly761=)
c.3428G= (p.Gly1143=)
c.3332G= (p.Gly1111=)
c.3236G= (p.Gly1079=)
c.3230G= (p.Gly1077=)
c.3155G= (p.Gly1052=)
c.2291G= (p.Gly764=)
n.3353-162G=
n.3408G=
n.3301G=
c.3518G= (p.Gly1173=)
c.3443G= (p.Gly1148=)
c.3422G= (p.Gly1141=)
c.3320G= (p.Gly1107=)
c.2381G= (p.Gly794=)
n.3439-162G=
n.3494G=
n.3385G=
n.3248G=
n.3050G=
8g.144511951C>GCA372668342RECQL4c.3353G>C (p.Gly1118Ala)
c.370G>C
n.50-162G>C
c.599G>C (p.Gly200Ala)
c.2282G>C (p.Gly761Ala)
c.3428G>C (p.Gly1143Ala)
c.3332G>C (p.Gly1111Ala)
c.3236G>C (p.Gly1079Ala)
c.3230G>C (p.Gly1077Ala)
c.3155G>C (p.Gly1052Ala)
c.2291G>C (p.Gly764Ala)
n.3353-162G>C
n.3408G>C
n.3301G>C
c.3518G>C (p.Gly1173Ala)
c.3443G>C (p.Gly1148Ala)
c.3422G>C (p.Gly1141Ala)
c.3320G>C (p.Gly1107Ala)
c.2381G>C (p.Gly794Ala)
n.3439-162G>C
n.3494G>C
n.3385G>C
n.3248G>C
n.3050G>C
 ClinVar
8g.144511951C>TCA372668338RECQL4c.3353G>A (p.Gly1118Asp)
c.370G>A
n.50-162G>A
c.599G>A (p.Gly200Asp)
c.2282G>A (p.Gly761Asp)
c.3428G>A (p.Gly1143Asp)
c.3332G>A (p.Gly1111Asp)
c.3236G>A (p.Gly1079Asp)
c.3230G>A (p.Gly1077Asp)
c.3155G>A (p.Gly1052Asp)
c.2291G>A (p.Gly764Asp)
n.3353-162G>A
n.3408G>A
n.3301G>A
c.3518G>A (p.Gly1173Asp)
c.3443G>A (p.Gly1148Asp)
c.3422G>A (p.Gly1141Asp)
c.3320G>A (p.Gly1107Asp)
c.2381G>A (p.Gly794Asp)
n.3439-162G>A
n.3494G>A
n.3385G>A
n.3248G>A
n.3050G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511952C>ACA372668358RECQL4c.3352G>T (p.Gly1118Cys)
c.369G>T
n.50-163G>T
c.598G>T (p.Gly200Cys)
c.2281G>T (p.Gly761Cys)
c.3427G>T (p.Gly1143Cys)
c.3331G>T (p.Gly1111Cys)
c.3235G>T (p.Gly1079Cys)
c.3229G>T (p.Gly1077Cys)
c.3154G>T (p.Gly1052Cys)
c.2290G>T (p.Gly764Cys)
n.3353-163G>T
n.3407G>T
n.3300G>T
c.3517G>T (p.Gly1173Cys)
c.3442G>T (p.Gly1148Cys)
c.3421G>T (p.Gly1141Cys)
c.3319G>T (p.Gly1107Cys)
c.2380G>T (p.Gly794Cys)
n.3439-163G>T
n.3493G>T
n.3384G>T
n.3247G>T
n.3049G>T
 ClinVar
8g.144511952C=CA1826365485RECQL4c.3352G= (p.Gly1118=)
c.369G=
n.50-163G=
c.598G= (p.Gly200=)
c.2281G= (p.Gly761=)
c.3427G= (p.Gly1143=)
c.3331G= (p.Gly1111=)
c.3235G= (p.Gly1079=)
c.3229G= (p.Gly1077=)
c.3154G= (p.Gly1052=)
c.2290G= (p.Gly764=)
n.3353-163G=
n.3407G=
n.3300G=
c.3517G= (p.Gly1173=)
c.3442G= (p.Gly1148=)
c.3421G= (p.Gly1141=)
c.3319G= (p.Gly1107=)
c.2380G= (p.Gly794=)
n.3439-163G=
n.3493G=
n.3384G=
n.3247G=
n.3049G=
8g.144511952C>GCA372668368RECQL4c.3352G>C (p.Gly1118Arg)
c.369G>C
n.50-163G>C
c.598G>C (p.Gly200Arg)
c.2281G>C (p.Gly761Arg)
c.3427G>C (p.Gly1143Arg)
c.3331G>C (p.Gly1111Arg)
c.3235G>C (p.Gly1079Arg)
c.3229G>C (p.Gly1077Arg)
c.3154G>C (p.Gly1052Arg)
c.2290G>C (p.Gly764Arg)
n.3353-163G>C
n.3407G>C
n.3300G>C
c.3517G>C (p.Gly1173Arg)
c.3442G>C (p.Gly1148Arg)
c.3421G>C (p.Gly1141Arg)
c.3319G>C (p.Gly1107Arg)
c.2380G>C (p.Gly794Arg)
n.3439-163G>C
n.3493G>C
n.3384G>C
n.3247G>C
n.3049G>C
8g.144511952C>TCA4947808RECQL4c.3352G>A (p.Gly1118Ser)
c.369G>A
n.50-163G>A
c.598G>A (p.Gly200Ser)
c.2281G>A (p.Gly761Ser)
c.3427G>A (p.Gly1143Ser)
c.3331G>A (p.Gly1111Ser)
c.3235G>A (p.Gly1079Ser)
c.3229G>A (p.Gly1077Ser)
c.3154G>A (p.Gly1052Ser)
c.2290G>A (p.Gly764Ser)
n.3353-163G>A
n.3407G>A
n.3300G>A
c.3517G>A (p.Gly1173Ser)
c.3442G>A (p.Gly1148Ser)
c.3421G>A (p.Gly1141Ser)
c.3319G>A (p.Gly1107Ser)
c.2380G>A (p.Gly794Ser)
n.3439-163G>A
n.3493G>A
n.3384G>A
n.3247G>A
n.3049G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511953T>ACA463565833RECQL4c.3351A>T (p.Gly1117=)
c.368A>T
n.50-164A>T
c.597A>T (p.Gly199=)
c.2280A>T (p.Gly760=)
c.3426A>T (p.Gly1142=)
c.3330A>T (p.Gly1110=)
c.3234A>T (p.Gly1078=)
c.3228A>T (p.Gly1076=)
c.3153A>T (p.Gly1051=)
c.2289A>T (p.Gly763=)
n.3353-164A>T
n.3406A>T
n.3299A>T
c.3516A>T (p.Gly1172=)
c.3441A>T (p.Gly1147=)
c.3420A>T (p.Gly1140=)
c.3318A>T (p.Gly1106=)
c.2379A>T (p.Gly793=)
n.3439-164A>T
n.3492A>T
n.3383A>T
n.3246A>T
n.3048A>T
 dbSNP
8g.144511953T>CCA463565834RECQL4c.3351A>G (p.Gly1117=)
c.368A>G
n.50-164A>G
c.597A>G (p.Gly199=)
c.2280A>G (p.Gly760=)
c.3426A>G (p.Gly1142=)
c.3330A>G (p.Gly1110=)
c.3234A>G (p.Gly1078=)
c.3228A>G (p.Gly1076=)
c.3153A>G (p.Gly1051=)
c.2289A>G (p.Gly763=)
n.3353-164A>G
n.3406A>G
n.3299A>G
c.3516A>G (p.Gly1172=)
c.3441A>G (p.Gly1147=)
c.3420A>G (p.Gly1140=)
c.3318A>G (p.Gly1106=)
c.2379A>G (p.Gly793=)
n.3439-164A>G
n.3492A>G
n.3383A>G
n.3246A>G
n.3048A>G
 dbSNP
8g.144511953T>GCA463565836RECQL4c.3351A>C (p.Gly1117=)
c.368A>C
n.50-164A>C
c.597A>C (p.Gly199=)
c.2280A>C (p.Gly760=)
c.3426A>C (p.Gly1142=)
c.3330A>C (p.Gly1110=)
c.3234A>C (p.Gly1078=)
c.3228A>C (p.Gly1076=)
c.3153A>C (p.Gly1051=)
c.2289A>C (p.Gly763=)
n.3353-164A>C
n.3406A>C
n.3299A>C
c.3516A>C (p.Gly1172=)
c.3441A>C (p.Gly1147=)
c.3420A>C (p.Gly1140=)
c.3318A>C (p.Gly1106=)
c.2379A>C (p.Gly793=)
n.3439-164A>C
n.3492A>C
n.3383A>C
n.3246A>C
n.3048A>C
8g.144511954C>ACA372668376RECQL4c.3350G>T (p.Gly1117Val)
c.367G>T
n.50-165G>T
c.596G>T (p.Gly199Val)
c.2279G>T (p.Gly760Val)
c.3425G>T (p.Gly1142Val)
c.3329G>T (p.Gly1110Val)
c.3233G>T (p.Gly1078Val)
c.3227G>T (p.Gly1076Val)
c.3152G>T (p.Gly1051Val)
c.2288G>T (p.Gly763Val)
n.3353-165G>T
n.3405G>T
n.3298G>T
c.3515G>T (p.Gly1172Val)
c.3440G>T (p.Gly1147Val)
c.3419G>T (p.Gly1140Val)
c.3317G>T (p.Gly1106Val)
c.2378G>T (p.Gly793Val)
n.3439-165G>T
n.3491G>T
n.3382G>T
n.3245G>T
n.3047G>T
8g.144511954C=CA1826365486RECQL4c.3350G= (p.Gly1117=)
c.367G=
n.50-165G=
c.596G= (p.Gly199=)
c.2279G= (p.Gly760=)
c.3425G= (p.Gly1142=)
c.3329G= (p.Gly1110=)
c.3233G= (p.Gly1078=)
c.3227G= (p.Gly1076=)
c.3152G= (p.Gly1051=)
c.2288G= (p.Gly763=)
n.3353-165G=
n.3405G=
n.3298G=
c.3515G= (p.Gly1172=)
c.3440G= (p.Gly1147=)
c.3419G= (p.Gly1140=)
c.3317G= (p.Gly1106=)
c.2378G= (p.Gly793=)
n.3439-165G=
n.3491G=
n.3382G=
n.3245G=
n.3047G=
8g.144511954C>GCA372668381RECQL4c.3350G>C (p.Gly1117Ala)
c.367G>C
n.50-165G>C
c.596G>C (p.Gly199Ala)
c.2279G>C (p.Gly760Ala)
c.3425G>C (p.Gly1142Ala)
c.3329G>C (p.Gly1110Ala)
c.3233G>C (p.Gly1078Ala)
c.3227G>C (p.Gly1076Ala)
c.3152G>C (p.Gly1051Ala)
c.2288G>C (p.Gly763Ala)
n.3353-165G>C
n.3405G>C
n.3298G>C
c.3515G>C (p.Gly1172Ala)
c.3440G>C (p.Gly1147Ala)
c.3419G>C (p.Gly1140Ala)
c.3317G>C (p.Gly1106Ala)
c.2378G>C (p.Gly793Ala)
n.3439-165G>C
n.3491G>C
n.3382G>C
n.3245G>C
n.3047G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511954C>TCA372668390RECQL4c.3350G>A (p.Gly1117Glu)
c.367G>A
n.50-165G>A
c.596G>A (p.Gly199Glu)
c.2279G>A (p.Gly760Glu)
c.3425G>A (p.Gly1142Glu)
c.3329G>A (p.Gly1110Glu)
c.3233G>A (p.Gly1078Glu)
c.3227G>A (p.Gly1076Glu)
c.3152G>A (p.Gly1051Glu)
c.2288G>A (p.Gly763Glu)
n.3353-165G>A
n.3405G>A
n.3298G>A
c.3515G>A (p.Gly1172Glu)
c.3440G>A (p.Gly1147Glu)
c.3419G>A (p.Gly1140Glu)
c.3317G>A (p.Gly1106Glu)
c.2378G>A (p.Gly793Glu)
n.3439-165G>A
n.3491G>A
n.3382G>A
n.3245G>A
n.3047G>A
 ClinVar dbSNP
8g.144511955C>ACA372668395RECQL4c.3349G>T (p.Gly1117Ter)
c.366G>T
n.50-166G>T
c.595G>T (p.Gly199Ter)
c.2278G>T (p.Gly760Ter)
c.3424G>T (p.Gly1142Ter)
c.3328G>T (p.Gly1110Ter)
c.3232G>T (p.Gly1078Ter)
c.3226G>T (p.Gly1076Ter)
c.3151G>T (p.Gly1051Ter)
c.2287G>T (p.Gly763Ter)
n.3353-166G>T
n.3404G>T
n.3297G>T
c.3514G>T (p.Gly1172Ter)
c.3439G>T (p.Gly1147Ter)
c.3418G>T (p.Gly1140Ter)
c.3316G>T (p.Gly1106Ter)
c.2377G>T (p.Gly793Ter)
n.3439-166G>T
n.3490G>T
n.3381G>T
n.3244G>T
n.3046G>T
8g.144511955C=CA1826365487RECQL4c.3349G= (p.Gly1117=)
c.366G=
n.50-166G=
c.595G= (p.Gly199=)
c.2278G= (p.Gly760=)
c.3424G= (p.Gly1142=)
c.3328G= (p.Gly1110=)
c.3232G= (p.Gly1078=)
c.3226G= (p.Gly1076=)
c.3151G= (p.Gly1051=)
c.2287G= (p.Gly763=)
n.3353-166G=
n.3404G=
n.3297G=
c.3514G= (p.Gly1172=)
c.3439G= (p.Gly1147=)
c.3418G= (p.Gly1140=)
c.3316G= (p.Gly1106=)
c.2377G= (p.Gly793=)
n.3439-166G=
n.3490G=
n.3381G=
n.3244G=
n.3046G=
8g.144511955C>GCA372668396RECQL4c.3349G>C (p.Gly1117Arg)
c.366G>C
n.50-166G>C
c.595G>C (p.Gly199Arg)
c.2278G>C (p.Gly760Arg)
c.3424G>C (p.Gly1142Arg)
c.3328G>C (p.Gly1110Arg)
c.3232G>C (p.Gly1078Arg)
c.3226G>C (p.Gly1076Arg)
c.3151G>C (p.Gly1051Arg)
c.2287G>C (p.Gly763Arg)
n.3353-166G>C
n.3404G>C
n.3297G>C
c.3514G>C (p.Gly1172Arg)
c.3439G>C (p.Gly1147Arg)
c.3418G>C (p.Gly1140Arg)
c.3316G>C (p.Gly1106Arg)
c.2377G>C (p.Gly793Arg)
n.3439-166G>C
n.3490G>C
n.3381G>C
n.3244G>C
n.3046G>C
8g.144511955C>TCA372668399RECQL4c.3349G>A (p.Gly1117Arg)
c.366G>A
n.50-166G>A
c.595G>A (p.Gly199Arg)
c.2278G>A (p.Gly760Arg)
c.3424G>A (p.Gly1142Arg)
c.3328G>A (p.Gly1110Arg)
c.3232G>A (p.Gly1078Arg)
c.3226G>A (p.Gly1076Arg)
c.3151G>A (p.Gly1051Arg)
c.2287G>A (p.Gly763Arg)
n.3353-166G>A
n.3404G>A
n.3297G>A
c.3514G>A (p.Gly1172Arg)
c.3439G>A (p.Gly1147Arg)
c.3418G>A (p.Gly1140Arg)
c.3316G>A (p.Gly1106Arg)
c.2377G>A (p.Gly793Arg)
n.3439-166G>A
n.3490G>A
n.3381G>A
n.3244G>A
n.3046G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511956C>ACA463565843RECQL4c.3348G>T (p.Pro1116=)
c.365G>T
n.50-167G>T
c.594G>T (p.Pro198=)
c.2277G>T (p.Pro759=)
c.3423G>T (p.Pro1141=)
c.3327G>T (p.Pro1109=)
c.3231G>T (p.Pro1077=)
c.3225G>T (p.Pro1075=)
c.3150G>T (p.Pro1050=)
c.2286G>T (p.Pro762=)
n.3353-167G>T
n.3403G>T
n.3296G>T
c.3513G>T (p.Pro1171=)
c.3438G>T (p.Pro1146=)
c.3417G>T (p.Pro1139=)
c.3315G>T (p.Pro1105=)
c.2376G>T (p.Pro792=)
n.3439-167G>T
n.3489G>T
n.3380G>T
n.3243G>T
n.3045G>T
 ClinVar dbSNP
8g.144511956C=CA1826365488RECQL4c.3348G= (p.Pro1116=)
c.365G=
n.50-167G=
c.594G= (p.Pro198=)
c.2277G= (p.Pro759=)
c.3423G= (p.Pro1141=)
c.3327G= (p.Pro1109=)
c.3231G= (p.Pro1077=)
c.3225G= (p.Pro1075=)
c.3150G= (p.Pro1050=)
c.2286G= (p.Pro762=)
n.3353-167G=
n.3403G=
n.3296G=
c.3513G= (p.Pro1171=)
c.3438G= (p.Pro1146=)
c.3417G= (p.Pro1139=)
c.3315G= (p.Pro1105=)
c.2376G= (p.Pro792=)
n.3439-167G=
n.3489G=
n.3380G=
n.3243G=
n.3045G=
8g.144511956C>GCA463565844RECQL4c.3348G>C (p.Pro1116=)
c.365G>C
n.50-167G>C
c.594G>C (p.Pro198=)
c.2277G>C (p.Pro759=)
c.3423G>C (p.Pro1141=)
c.3327G>C (p.Pro1109=)
c.3231G>C (p.Pro1077=)
c.3225G>C (p.Pro1075=)
c.3150G>C (p.Pro1050=)
c.2286G>C (p.Pro762=)
n.3353-167G>C
n.3403G>C
n.3296G>C
c.3513G>C (p.Pro1171=)
c.3438G>C (p.Pro1146=)
c.3417G>C (p.Pro1139=)
c.3315G>C (p.Pro1105=)
c.2376G>C (p.Pro792=)
n.3439-167G>C
n.3489G>C
n.3380G>C
n.3243G>C
n.3045G>C
 gnomAD v4
8g.144511956C>TCA4947809RECQL4c.3348G>A (p.Pro1116=)
c.365G>A
n.50-167G>A
c.594G>A (p.Pro198=)
c.2277G>A (p.Pro759=)
c.3423G>A (p.Pro1141=)
c.3327G>A (p.Pro1109=)
c.3231G>A (p.Pro1077=)
c.3225G>A (p.Pro1075=)
c.3150G>A (p.Pro1050=)
c.2286G>A (p.Pro762=)
n.3353-167G>A
n.3403G>A
n.3296G>A
c.3513G>A (p.Pro1171=)
c.3438G>A (p.Pro1146=)
c.3417G>A (p.Pro1139=)
c.3315G>A (p.Pro1105=)
c.2376G>A (p.Pro792=)
n.3439-167G>A
n.3489G>A
n.3380G>A
n.3243G>A
n.3045G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511957G>ACA4947810RECQL4c.3347C>T (p.Pro1116Leu)
c.364C>T
n.50-168C>T
c.593C>T (p.Pro198Leu)
c.2276C>T (p.Pro759Leu)
c.3422C>T (p.Pro1141Leu)
c.3326C>T (p.Pro1109Leu)
c.3230C>T (p.Pro1077Leu)
c.3224C>T (p.Pro1075Leu)
c.3149C>T (p.Pro1050Leu)
c.2285C>T (p.Pro762Leu)
n.3353-168C>T
n.3402C>T
n.3295C>T
c.3512C>T (p.Pro1171Leu)
c.3437C>T (p.Pro1146Leu)
c.3416C>T (p.Pro1139Leu)
c.3314C>T (p.Pro1105Leu)
c.2375C>T (p.Pro792Leu)
n.3439-168C>T
n.3488C>T
n.3379C>T
n.3242C>T
n.3044C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511957G>CCA372668417RECQL4c.3347C>G (p.Pro1116Arg)
c.364C>G
n.50-168C>G
c.593C>G (p.Pro198Arg)
c.2276C>G (p.Pro759Arg)
c.3422C>G (p.Pro1141Arg)
c.3326C>G (p.Pro1109Arg)
c.3230C>G (p.Pro1077Arg)
c.3224C>G (p.Pro1075Arg)
c.3149C>G (p.Pro1050Arg)
c.2285C>G (p.Pro762Arg)
n.3353-168C>G
n.3402C>G
n.3295C>G
c.3512C>G (p.Pro1171Arg)
c.3437C>G (p.Pro1146Arg)
c.3416C>G (p.Pro1139Arg)
c.3314C>G (p.Pro1105Arg)
c.2375C>G (p.Pro792Arg)
n.3439-168C>G
n.3488C>G
n.3379C>G
n.3242C>G
n.3044C>G
 dbSNP
8g.144511957G=CA1826365489RECQL4c.3347C= (p.Pro1116=)
c.364C=
n.50-168C=
c.593C= (p.Pro198=)
c.2276C= (p.Pro759=)
c.3422C= (p.Pro1141=)
c.3326C= (p.Pro1109=)
c.3230C= (p.Pro1077=)
c.3224C= (p.Pro1075=)
c.3149C= (p.Pro1050=)
c.2285C= (p.Pro762=)
n.3353-168C=
n.3402C=
n.3295C=
c.3512C= (p.Pro1171=)
c.3437C= (p.Pro1146=)
c.3416C= (p.Pro1139=)
c.3314C= (p.Pro1105=)
c.2375C= (p.Pro792=)
n.3439-168C=
n.3488C=
n.3379C=
n.3242C=
n.3044C=
8g.144511957G>TCA372668424RECQL4c.3347C>A (p.Pro1116Gln)
c.364C>A
n.50-168C>A
c.593C>A (p.Pro198Gln)
c.2276C>A (p.Pro759Gln)
c.3422C>A (p.Pro1141Gln)
c.3326C>A (p.Pro1109Gln)
c.3230C>A (p.Pro1077Gln)
c.3224C>A (p.Pro1075Gln)
c.3149C>A (p.Pro1050Gln)
c.2285C>A (p.Pro762Gln)
n.3353-168C>A
n.3402C>A
n.3295C>A
c.3512C>A (p.Pro1171Gln)
c.3437C>A (p.Pro1146Gln)
c.3416C>A (p.Pro1139Gln)
c.3314C>A (p.Pro1105Gln)
c.2375C>A (p.Pro792Gln)
n.3439-168C>A
n.3488C>A
n.3379C>A
n.3242C>A
n.3044C>A
 ClinVar
8g.144511958G>ACA372668434RECQL4c.3346C>T (p.Pro1116Ser)
c.363C>T
n.50-169C>T
c.592C>T (p.Pro198Ser)
c.2275C>T (p.Pro759Ser)
c.3421C>T (p.Pro1141Ser)
c.3325C>T (p.Pro1109Ser)
c.3229C>T (p.Pro1077Ser)
c.3223C>T (p.Pro1075Ser)
c.3148C>T (p.Pro1050Ser)
c.2284C>T (p.Pro762Ser)
n.3353-169C>T
n.3401C>T
n.3294C>T
c.3511C>T (p.Pro1171Ser)
c.3436C>T (p.Pro1146Ser)
c.3415C>T (p.Pro1139Ser)
c.3313C>T (p.Pro1105Ser)
c.2374C>T (p.Pro792Ser)
n.3439-169C>T
n.3487C>T
n.3378C>T
n.3241C>T
n.3043C>T
 dbSNP gnomAD v4
8g.144511958G>CCA372668436RECQL4c.3346C>G (p.Pro1116Ala)
c.363C>G
n.50-169C>G
c.592C>G (p.Pro198Ala)
c.2275C>G (p.Pro759Ala)
c.3421C>G (p.Pro1141Ala)
c.3325C>G (p.Pro1109Ala)
c.3229C>G (p.Pro1077Ala)
c.3223C>G (p.Pro1075Ala)
c.3148C>G (p.Pro1050Ala)
c.2284C>G (p.Pro762Ala)
n.3353-169C>G
n.3401C>G
n.3294C>G
c.3511C>G (p.Pro1171Ala)
c.3436C>G (p.Pro1146Ala)
c.3415C>G (p.Pro1139Ala)
c.3313C>G (p.Pro1105Ala)
c.2374C>G (p.Pro792Ala)
n.3439-169C>G
n.3487C>G
n.3378C>G
n.3241C>G
n.3043C>G
 ClinVar dbSNP
8g.144511958G=CA1826365490RECQL4c.3346C= (p.Pro1116=)
c.363C=
n.50-169C=
c.592C= (p.Pro198=)
c.2275C= (p.Pro759=)
c.3421C= (p.Pro1141=)
c.3325C= (p.Pro1109=)
c.3229C= (p.Pro1077=)
c.3223C= (p.Pro1075=)
c.3148C= (p.Pro1050=)
c.2284C= (p.Pro762=)
n.3353-169C=
n.3401C=
n.3294C=
c.3511C= (p.Pro1171=)
c.3436C= (p.Pro1146=)
c.3415C= (p.Pro1139=)
c.3313C= (p.Pro1105=)
c.2374C= (p.Pro792=)
n.3439-169C=
n.3487C=
n.3378C=
n.3241C=
n.3043C=
8g.144511958G>TCA372668431RECQL4c.3346C>A (p.Pro1116Thr)
c.363C>A
n.50-169C>A
c.592C>A (p.Pro198Thr)
c.2275C>A (p.Pro759Thr)
c.3421C>A (p.Pro1141Thr)
c.3325C>A (p.Pro1109Thr)
c.3229C>A (p.Pro1077Thr)
c.3223C>A (p.Pro1075Thr)
c.3148C>A (p.Pro1050Thr)
c.2284C>A (p.Pro762Thr)
n.3353-169C>A
n.3401C>A
n.3294C>A
c.3511C>A (p.Pro1171Thr)
c.3436C>A (p.Pro1146Thr)
c.3415C>A (p.Pro1139Thr)
c.3313C>A (p.Pro1105Thr)
c.2374C>A (p.Pro792Thr)
n.3439-169C>A
n.3487C>A
n.3378C>A
n.3241C>A
n.3043C>A
 gnomAD v4
8g.144511959C>ACA372668438RECQL4c.3345G>T (p.Glu1115Asp)
c.362G>T
n.50-170G>T
c.591G>T (p.Glu197Asp)
c.2274G>T (p.Glu758Asp)
c.3420G>T (p.Glu1140Asp)
c.3324G>T (p.Glu1108Asp)
c.3228G>T (p.Glu1076Asp)
c.3222G>T (p.Glu1074Asp)
c.3147G>T (p.Glu1049Asp)
c.2283G>T (p.Glu761Asp)
n.3353-170G>T
n.3400G>T
n.3293G>T
c.3510G>T (p.Glu1170Asp)
c.3435G>T (p.Glu1145Asp)
c.3414G>T (p.Glu1138Asp)
c.3312G>T (p.Glu1104Asp)
c.2373G>T (p.Glu791Asp)
n.3439-170G>T
n.3486G>T
n.3377G>T
n.3240G>T
n.3042G>T
8g.144511959C=CA1826365491RECQL4c.3345G= (p.Glu1115=)
c.362G=
n.50-170G=
c.591G= (p.Glu197=)
c.2274G= (p.Glu758=)
c.3420G= (p.Glu1140=)
c.3324G= (p.Glu1108=)
c.3228G= (p.Glu1076=)
c.3222G= (p.Glu1074=)
c.3147G= (p.Glu1049=)
c.2283G= (p.Glu761=)
n.3353-170G=
n.3400G=
n.3293G=
c.3510G= (p.Glu1170=)
c.3435G= (p.Glu1145=)
c.3414G= (p.Glu1138=)
c.3312G= (p.Glu1104=)
c.2373G= (p.Glu791=)
n.3439-170G=
n.3486G=
n.3377G=
n.3240G=
n.3042G=
8g.144511959C>GCA372668441RECQL4c.3345G>C (p.Glu1115Asp)
c.362G>C
n.50-170G>C
c.591G>C (p.Glu197Asp)
c.2274G>C (p.Glu758Asp)
c.3420G>C (p.Glu1140Asp)
c.3324G>C (p.Glu1108Asp)
c.3228G>C (p.Glu1076Asp)
c.3222G>C (p.Glu1074Asp)
c.3147G>C (p.Glu1049Asp)
c.2283G>C (p.Glu761Asp)
n.3353-170G>C
n.3400G>C
n.3293G>C
c.3510G>C (p.Glu1170Asp)
c.3435G>C (p.Glu1145Asp)
c.3414G>C (p.Glu1138Asp)
c.3312G>C (p.Glu1104Asp)
c.2373G>C (p.Glu791Asp)
n.3439-170G>C
n.3486G>C
n.3377G>C
n.3240G>C
n.3042G>C
8g.144511959C>TCA4947811RECQL4c.3345G>A (p.Glu1115=)
c.362G>A
n.50-170G>A
c.591G>A (p.Glu197=)
c.2274G>A (p.Glu758=)
c.3420G>A (p.Glu1140=)
c.3324G>A (p.Glu1108=)
c.3228G>A (p.Glu1076=)
c.3222G>A (p.Glu1074=)
c.3147G>A (p.Glu1049=)
c.2283G>A (p.Glu761=)
n.3353-170G>A
n.3400G>A
n.3293G>A
c.3510G>A (p.Glu1170=)
c.3435G>A (p.Glu1145=)
c.3414G>A (p.Glu1138=)
c.3312G>A (p.Glu1104=)
c.2373G>A (p.Glu791=)
n.3439-170G>A
n.3486G>A
n.3377G>A
n.3240G>A
n.3042G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511960T>ACA372668446RECQL4c.3344A>T (p.Glu1115Val)
c.361A>T
n.50-171A>T
c.590A>T (p.Glu197Val)
c.2273A>T (p.Glu758Val)
c.3419A>T (p.Glu1140Val)
c.3323A>T (p.Glu1108Val)
c.3227A>T (p.Glu1076Val)
c.3221A>T (p.Glu1074Val)
c.3146A>T (p.Glu1049Val)
c.2282A>T (p.Glu761Val)
n.3353-171A>T
n.3399A>T
n.3292A>T
c.3509A>T (p.Glu1170Val)
c.3434A>T (p.Glu1145Val)
c.3413A>T (p.Glu1138Val)
c.3311A>T (p.Glu1104Val)
c.2372A>T (p.Glu791Val)
n.3439-171A>T
n.3485A>T
n.3376A>T
n.3239A>T
n.3041A>T
8g.144511960T>CCA372668447RECQL4c.3344A>G (p.Glu1115Gly)
c.361A>G
n.50-171A>G
c.590A>G (p.Glu197Gly)
c.2273A>G (p.Glu758Gly)
c.3419A>G (p.Glu1140Gly)
c.3323A>G (p.Glu1108Gly)
c.3227A>G (p.Glu1076Gly)
c.3221A>G (p.Glu1074Gly)
c.3146A>G (p.Glu1049Gly)
c.2282A>G (p.Glu761Gly)
n.3353-171A>G
n.3399A>G
n.3292A>G
c.3509A>G (p.Glu1170Gly)
c.3434A>G (p.Glu1145Gly)
c.3413A>G (p.Glu1138Gly)
c.3311A>G (p.Glu1104Gly)
c.2372A>G (p.Glu791Gly)
n.3439-171A>G
n.3485A>G
n.3376A>G
n.3239A>G
n.3041A>G
8g.144511960T>GCA372668448RECQL4c.3344A>C (p.Glu1115Ala)
c.361A>C
n.50-171A>C
c.590A>C (p.Glu197Ala)
c.2273A>C (p.Glu758Ala)
c.3419A>C (p.Glu1140Ala)
c.3323A>C (p.Glu1108Ala)
c.3227A>C (p.Glu1076Ala)
c.3221A>C (p.Glu1074Ala)
c.3146A>C (p.Glu1049Ala)
c.2282A>C (p.Glu761Ala)
n.3353-171A>C
n.3399A>C
n.3292A>C
c.3509A>C (p.Glu1170Ala)
c.3434A>C (p.Glu1145Ala)
c.3413A>C (p.Glu1138Ala)
c.3311A>C (p.Glu1104Ala)
c.2372A>C (p.Glu791Ala)
n.3439-171A>C
n.3485A>C
n.3376A>C
n.3239A>C
n.3041A>C
8g.144511960_144512152delCA2580078780RECQL4c.3228_3344del
c.245_361del
n.49+173_50-171del
c.474_590del
c.2157_2273del
c.3303_3419del
c.3207_3323del
c.3111_3227del
c.3105_3221del
c.3030_3146del
c.2166_2282del
n.3344_3353-171del
n.3283_3399del
n.3176_3292del
c.3393_3509del
c.3318_3434del
c.3297_3413del
c.3195_3311del
c.2256_2372del
n.3430_3439-171del
n.3369_3485del
n.3260_3376del
n.3123_3239del
n.2925_3041del
 ClinVar
8g.144511961C>ACA372668452RECQL4c.3343G>T (p.Glu1115Ter)
c.360G>T
n.50-172G>T
c.589G>T (p.Glu197Ter)
c.2272G>T (p.Glu758Ter)
c.3418G>T (p.Glu1140Ter)
c.3322G>T (p.Glu1108Ter)
c.3226G>T (p.Glu1076Ter)
c.3220G>T (p.Glu1074Ter)
c.3145G>T (p.Glu1049Ter)
c.2281G>T (p.Glu761Ter)
n.3353-172G>T
n.3398G>T
n.3291G>T
c.3508G>T (p.Glu1170Ter)
c.3433G>T (p.Glu1145Ter)
c.3412G>T (p.Glu1138Ter)
c.3310G>T (p.Glu1104Ter)
c.2371G>T (p.Glu791Ter)
n.3439-172G>T
n.3484G>T
n.3375G>T
n.3238G>T
n.3040G>T
8g.144511961C>GCA372668458RECQL4c.3343G>C (p.Glu1115Gln)
c.360G>C
n.50-172G>C
c.589G>C (p.Glu197Gln)
c.2272G>C (p.Glu758Gln)
c.3418G>C (p.Glu1140Gln)
c.3322G>C (p.Glu1108Gln)
c.3226G>C (p.Glu1076Gln)
c.3220G>C (p.Glu1074Gln)
c.3145G>C (p.Glu1049Gln)
c.2281G>C (p.Glu761Gln)
n.3353-172G>C
n.3398G>C
n.3291G>C
c.3508G>C (p.Glu1170Gln)
c.3433G>C (p.Glu1145Gln)
c.3412G>C (p.Glu1138Gln)
c.3310G>C (p.Glu1104Gln)
c.2371G>C (p.Glu791Gln)
n.3439-172G>C
n.3484G>C
n.3375G>C
n.3238G>C
n.3040G>C
 COSMIC
8g.144511961C>TCA372668455RECQL4c.3343G>A (p.Glu1115Lys)
c.360G>A
n.50-172G>A
c.589G>A (p.Glu197Lys)
c.2272G>A (p.Glu758Lys)
c.3418G>A (p.Glu1140Lys)
c.3322G>A (p.Glu1108Lys)
c.3226G>A (p.Glu1076Lys)
c.3220G>A (p.Glu1074Lys)
c.3145G>A (p.Glu1049Lys)
c.2281G>A (p.Glu761Lys)
n.3353-172G>A
n.3398G>A
n.3291G>A
c.3508G>A (p.Glu1170Lys)
c.3433G>A (p.Glu1145Lys)
c.3412G>A (p.Glu1138Lys)
c.3310G>A (p.Glu1104Lys)
c.2371G>A (p.Glu791Lys)
n.3439-172G>A
n.3484G>A
n.3375G>A
n.3238G>A
n.3040G>A
 ClinVar dbSNP
8g.144511962delCA2689129144RECQL4c.3343del (p.Glu1115SerfsTer?)
c.360del
n.50-172del
c.589del (p.Glu197SerfsTer18)
c.2272del (p.Glu758SerfsTer?)
c.3418del (p.Glu1140SerfsTer?)
c.3322del (p.Glu1108SerfsTer?)
c.3226del (p.Glu1076SerfsTer?)
c.3220del (p.Glu1074SerfsTer?)
c.3145del (p.Glu1049SerfsTer?)
c.2281del (p.Glu761SerfsTer?)
n.3353-172del
n.3398del
n.3291del
c.3508del (p.Glu1170SerfsTer18)
c.3433del (p.Glu1145SerfsTer18)
c.3418del (p.Glu1140SerfsTer18)
c.3412del (p.Glu1138SerfsTer18)
c.3343del (p.Glu1115SerfsTer18)
c.3508del (p.Glu1170SerfsTer?)
c.3310del (p.Glu1104SerfsTer18)
c.3433del (p.Glu1145SerfsTer?)
c.3220del (p.Glu1074SerfsTer18)
c.2371del (p.Glu791SerfsTer18)
c.2281del (p.Glu761SerfsTer18)
n.3439-172del
n.3484del
n.3375del
n.3238del
n.3040del
 gnomAD v4
8g.144511962C>ACA372668463RECQL4c.3342G>T (p.Gln1114His)
c.359G>T
n.50-173G>T
c.588G>T (p.Gln196His)
c.2271G>T (p.Gln757His)
c.3417G>T (p.Gln1139His)
c.3321G>T (p.Gln1107His)
c.3225G>T (p.Gln1075His)
c.3219G>T (p.Gln1073His)
c.3144G>T (p.Gln1048His)
c.2280G>T (p.Gln760His)
n.3353-173G>T
n.3397G>T
n.3290G>T
c.3507G>T (p.Gln1169His)
c.3432G>T (p.Gln1144His)
c.3411G>T (p.Gln1137His)
c.3309G>T (p.Gln1103His)
c.2370G>T (p.Gln790His)
n.3439-173G>T
n.3483G>T
n.3374G>T
n.3237G>T
n.3039G>T
8g.144511962C=CA1826365492RECQL4c.3342G= (p.Gln1114=)
c.359G=
n.50-173G=
c.588G= (p.Gln196=)
c.2271G= (p.Gln757=)
c.3417G= (p.Gln1139=)
c.3321G= (p.Gln1107=)
c.3225G= (p.Gln1075=)
c.3219G= (p.Gln1073=)
c.3144G= (p.Gln1048=)
c.2280G= (p.Gln760=)
n.3353-173G=
n.3397G=
n.3290G=
c.3507G= (p.Gln1169=)
c.3432G= (p.Gln1144=)
c.3411G= (p.Gln1137=)
c.3309G= (p.Gln1103=)
c.2370G= (p.Gln790=)
n.3439-173G=
n.3483G=
n.3374G=
n.3237G=
n.3039G=
8g.144511962C>GCA187679043RECQL4c.3342G>C (p.Gln1114His)
c.359G>C
n.50-173G>C
c.588G>C (p.Gln196His)
c.2271G>C (p.Gln757His)
c.3417G>C (p.Gln1139His)
c.3321G>C (p.Gln1107His)
c.3225G>C (p.Gln1075His)
c.3219G>C (p.Gln1073His)
c.3144G>C (p.Gln1048His)
c.2280G>C (p.Gln760His)
n.3353-173G>C
n.3397G>C
n.3290G>C
c.3507G>C (p.Gln1169His)
c.3432G>C (p.Gln1144His)
c.3411G>C (p.Gln1137His)
c.3309G>C (p.Gln1103His)
c.2370G>C (p.Gln790His)
n.3439-173G>C
n.3483G>C
n.3374G>C
n.3237G>C
n.3039G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511962C>TCA463565851RECQL4c.3342G>A (p.Gln1114=)
c.359G>A
n.50-173G>A
c.588G>A (p.Gln196=)
c.2271G>A (p.Gln757=)
c.3417G>A (p.Gln1139=)
c.3321G>A (p.Gln1107=)
c.3225G>A (p.Gln1075=)
c.3219G>A (p.Gln1073=)
c.3144G>A (p.Gln1048=)
c.2280G>A (p.Gln760=)
n.3353-173G>A
n.3397G>A
n.3290G>A
c.3507G>A (p.Gln1169=)
c.3432G>A (p.Gln1144=)
c.3411G>A (p.Gln1137=)
c.3309G>A (p.Gln1103=)
c.2370G>A (p.Gln790=)
n.3439-173G>A
n.3483G>A
n.3374G>A
n.3237G>A
n.3039G>A
 COSMIC
8g.144511963T>ACA372668474RECQL4c.3341A>T (p.Gln1114Leu)
c.358A>T
n.50-174A>T
c.587A>T (p.Gln196Leu)
c.2270A>T (p.Gln757Leu)
c.3416A>T (p.Gln1139Leu)
c.3320A>T (p.Gln1107Leu)
c.3224A>T (p.Gln1075Leu)
c.3218A>T (p.Gln1073Leu)
c.3143A>T (p.Gln1048Leu)
c.2279A>T (p.Gln760Leu)
n.3353-174A>T
n.3396A>T
n.3289A>T
c.3506A>T (p.Gln1169Leu)
c.3431A>T (p.Gln1144Leu)
c.3410A>T (p.Gln1137Leu)
c.3308A>T (p.Gln1103Leu)
c.2369A>T (p.Gln790Leu)
n.3439-174A>T
n.3482A>T
n.3373A>T
n.3236A>T
n.3038A>T
8g.144511963T>CCA372668476RECQL4c.3341A>G (p.Gln1114Arg)
c.358A>G
n.50-174A>G
c.587A>G (p.Gln196Arg)
c.2270A>G (p.Gln757Arg)
c.3416A>G (p.Gln1139Arg)
c.3320A>G (p.Gln1107Arg)
c.3224A>G (p.Gln1075Arg)
c.3218A>G (p.Gln1073Arg)
c.3143A>G (p.Gln1048Arg)
c.2279A>G (p.Gln760Arg)
n.3353-174A>G
n.3396A>G
n.3289A>G
c.3506A>G (p.Gln1169Arg)
c.3431A>G (p.Gln1144Arg)
c.3410A>G (p.Gln1137Arg)
c.3308A>G (p.Gln1103Arg)
c.2369A>G (p.Gln790Arg)
n.3439-174A>G
n.3482A>G
n.3373A>G
n.3236A>G
n.3038A>G
 ClinVar dbSNP
8g.144511963T>GCA372668480RECQL4c.3341A>C (p.Gln1114Pro)
c.358A>C
n.50-174A>C
c.587A>C (p.Gln196Pro)
c.2270A>C (p.Gln757Pro)
c.3416A>C (p.Gln1139Pro)
c.3320A>C (p.Gln1107Pro)
c.3224A>C (p.Gln1075Pro)
c.3218A>C (p.Gln1073Pro)
c.3143A>C (p.Gln1048Pro)
c.2279A>C (p.Gln760Pro)
n.3353-174A>C
n.3396A>C
n.3289A>C
c.3506A>C (p.Gln1169Pro)
c.3431A>C (p.Gln1144Pro)
c.3410A>C (p.Gln1137Pro)
c.3308A>C (p.Gln1103Pro)
c.2369A>C (p.Gln790Pro)
n.3439-174A>C
n.3482A>C
n.3373A>C
n.3236A>C
n.3038A>C
 gnomAD v4
8g.144511963T=CA1826365493RECQL4c.3341A= (p.Gln1114=)
c.358A=
n.50-174A=
c.587A= (p.Gln196=)
c.2270A= (p.Gln757=)
c.3416A= (p.Gln1139=)
c.3320A= (p.Gln1107=)
c.3224A= (p.Gln1075=)
c.3218A= (p.Gln1073=)
c.3143A= (p.Gln1048=)
c.2279A= (p.Gln760=)
n.3353-174A=
n.3396A=
n.3289A=
c.3506A= (p.Gln1169=)
c.3431A= (p.Gln1144=)
c.3410A= (p.Gln1137=)
c.3308A= (p.Gln1103=)
c.2369A= (p.Gln790=)
n.3439-174A=
n.3482A=
n.3373A=
n.3236A=
n.3038A=
8g.144511964G>ACA372668489RECQL4c.3340C>T (p.Gln1114Ter)
c.357C>T
n.50-175C>T
c.586C>T (p.Gln196Ter)
c.2269C>T (p.Gln757Ter)
c.3415C>T (p.Gln1139Ter)
c.3319C>T (p.Gln1107Ter)
c.3223C>T (p.Gln1075Ter)
c.3217C>T (p.Gln1073Ter)
c.3142C>T (p.Gln1048Ter)
c.2278C>T (p.Gln760Ter)
n.3353-175C>T
n.3395C>T
n.3288C>T
c.3505C>T (p.Gln1169Ter)
c.3430C>T (p.Gln1144Ter)
c.3409C>T (p.Gln1137Ter)
c.3307C>T (p.Gln1103Ter)
c.2368C>T (p.Gln790Ter)
n.3439-175C>T
n.3481C>T
n.3372C>T
n.3235C>T
n.3037C>T
 ClinVar dbSNP gnomAD v4
8g.144511964G>CCA372668488RECQL4c.3340C>G (p.Gln1114Glu)
c.357C>G
n.50-175C>G
c.586C>G (p.Gln196Glu)
c.2269C>G (p.Gln757Glu)
c.3415C>G (p.Gln1139Glu)
c.3319C>G (p.Gln1107Glu)
c.3223C>G (p.Gln1075Glu)
c.3217C>G (p.Gln1073Glu)
c.3142C>G (p.Gln1048Glu)
c.2278C>G (p.Gln760Glu)
n.3353-175C>G
n.3395C>G
n.3288C>G
c.3505C>G (p.Gln1169Glu)
c.3430C>G (p.Gln1144Glu)
c.3409C>G (p.Gln1137Glu)
c.3307C>G (p.Gln1103Glu)
c.2368C>G (p.Gln790Glu)
n.3439-175C>G
n.3481C>G
n.3372C>G
n.3235C>G
n.3037C>G
 dbSNP gnomAD v3 gnomAD v4
8g.144511964G=CA1826365494RECQL4c.3340C= (p.Gln1114=)
c.357C=
n.50-175C=
c.586C= (p.Gln196=)
c.2269C= (p.Gln757=)
c.3415C= (p.Gln1139=)
c.3319C= (p.Gln1107=)
c.3223C= (p.Gln1075=)
c.3217C= (p.Gln1073=)
c.3142C= (p.Gln1048=)
c.2278C= (p.Gln760=)
n.3353-175C=
n.3395C=
n.3288C=
c.3505C= (p.Gln1169=)
c.3430C= (p.Gln1144=)
c.3409C= (p.Gln1137=)
c.3307C= (p.Gln1103=)
c.2368C= (p.Gln790=)
n.3439-175C=
n.3481C=
n.3372C=
n.3235C=
n.3037C=
8g.144511964G>TCA187679048RECQL4c.3340C>A (p.Gln1114Lys)
c.357C>A
n.50-175C>A
c.586C>A (p.Gln196Lys)
c.2269C>A (p.Gln757Lys)
c.3415C>A (p.Gln1139Lys)
c.3319C>A (p.Gln1107Lys)
c.3223C>A (p.Gln1075Lys)
c.3217C>A (p.Gln1073Lys)
c.3142C>A (p.Gln1048Lys)
c.2278C>A (p.Gln760Lys)
n.3353-175C>A
n.3395C>A
n.3288C>A
c.3505C>A (p.Gln1169Lys)
c.3430C>A (p.Gln1144Lys)
c.3409C>A (p.Gln1137Lys)
c.3307C>A (p.Gln1103Lys)
c.2368C>A (p.Gln790Lys)
n.3439-175C>A
n.3481C>A
n.3372C>A
n.3235C>A
n.3037C>A
 dbSNP gnomAD v4
8g.144511965C>ACA463565856RECQL4c.3339G>T (p.Gly1113=)
c.356G>T
n.50-176G>T
c.585G>T (p.Gly195=)
c.2268G>T (p.Gly756=)
c.3414G>T (p.Gly1138=)
c.3318G>T (p.Gly1106=)
c.3222G>T (p.Gly1074=)
c.3216G>T (p.Gly1072=)
c.3141G>T (p.Gly1047=)
c.2277G>T (p.Gly759=)
n.3353-176G>T
n.3394G>T
n.3287G>T
c.3504G>T (p.Gly1168=)
c.3429G>T (p.Gly1143=)
c.3408G>T (p.Gly1136=)
c.3306G>T (p.Gly1102=)
c.2367G>T (p.Gly789=)
n.3439-176G>T
n.3480G>T
n.3371G>T
n.3234G>T
n.3036G>T
8g.144511965C=CA1826365495RECQL4c.3339G= (p.Gly1113=)
c.356G=
n.50-176G=
c.585G= (p.Gly195=)
c.2268G= (p.Gly756=)
c.3414G= (p.Gly1138=)
c.3318G= (p.Gly1106=)
c.3222G= (p.Gly1074=)
c.3216G= (p.Gly1072=)
c.3141G= (p.Gly1047=)
c.2277G= (p.Gly759=)
n.3353-176G=
n.3394G=
n.3287G=
c.3504G= (p.Gly1168=)
c.3429G= (p.Gly1143=)
c.3408G= (p.Gly1136=)
c.3306G= (p.Gly1102=)
c.2367G= (p.Gly789=)
n.3439-176G=
n.3480G=
n.3371G=
n.3234G=
n.3036G=
8g.144511965C>GCA463565857RECQL4c.3339G>C (p.Gly1113=)
c.356G>C
n.50-176G>C
c.585G>C (p.Gly195=)
c.2268G>C (p.Gly756=)
c.3414G>C (p.Gly1138=)
c.3318G>C (p.Gly1106=)
c.3222G>C (p.Gly1074=)
c.3216G>C (p.Gly1072=)
c.3141G>C (p.Gly1047=)
c.2277G>C (p.Gly759=)
n.3353-176G>C
n.3394G>C
n.3287G>C
c.3504G>C (p.Gly1168=)
c.3429G>C (p.Gly1143=)
c.3408G>C (p.Gly1136=)
c.3306G>C (p.Gly1102=)
c.2367G>C (p.Gly789=)
n.3439-176G>C
n.3480G>C
n.3371G>C
n.3234G>C
n.3036G>C
8g.144511965C>TCA463565858RECQL4c.3339G>A (p.Gly1113=)
c.356G>A
n.50-176G>A
c.585G>A (p.Gly195=)
c.2268G>A (p.Gly756=)
c.3414G>A (p.Gly1138=)
c.3318G>A (p.Gly1106=)
c.3222G>A (p.Gly1074=)
c.3216G>A (p.Gly1072=)
c.3141G>A (p.Gly1047=)
c.2277G>A (p.Gly759=)
n.3353-176G>A
n.3394G>A
n.3287G>A
c.3504G>A (p.Gly1168=)
c.3429G>A (p.Gly1143=)
c.3408G>A (p.Gly1136=)
c.3306G>A (p.Gly1102=)
c.2367G>A (p.Gly789=)
n.3439-176G>A
n.3480G>A
n.3371G>A
n.3234G>A
n.3036G>A
 dbSNP gnomAD v3 gnomAD v4
8g.144511966C>ACA372668492RECQL4c.3338G>T (p.Gly1113Val)
c.355G>T
n.50-177G>T
c.584G>T (p.Gly195Val)
c.2267G>T (p.Gly756Val)
c.3413G>T (p.Gly1138Val)
c.3317G>T (p.Gly1106Val)
c.3221G>T (p.Gly1074Val)
c.3215G>T (p.Gly1072Val)
c.3140G>T (p.Gly1047Val)
c.2276G>T (p.Gly759Val)
n.3353-177G>T
n.3393G>T
n.3286G>T
c.3503G>T (p.Gly1168Val)
c.3428G>T (p.Gly1143Val)
c.3407G>T (p.Gly1136Val)
c.3305G>T (p.Gly1102Val)
c.2366G>T (p.Gly789Val)
n.3439-177G>T
n.3479G>T
n.3370G>T
n.3233G>T
n.3035G>T
8g.144511966C=CA1826365496RECQL4c.3338G= (p.Gly1113=)
c.355G=
n.50-177G=
c.584G= (p.Gly195=)
c.2267G= (p.Gly756=)
c.3413G= (p.Gly1138=)
c.3317G= (p.Gly1106=)
c.3221G= (p.Gly1074=)
c.3215G= (p.Gly1072=)
c.3140G= (p.Gly1047=)
c.2276G= (p.Gly759=)
n.3353-177G=
n.3393G=
n.3286G=
c.3503G= (p.Gly1168=)
c.3428G= (p.Gly1143=)
c.3407G= (p.Gly1136=)
c.3305G= (p.Gly1102=)
c.2366G= (p.Gly789=)
n.3439-177G=
n.3479G=
n.3370G=
n.3233G=
n.3035G=
8g.144511966C>GCA372668490RECQL4c.3338G>C (p.Gly1113Ala)
c.355G>C
n.50-177G>C
c.584G>C (p.Gly195Ala)
c.2267G>C (p.Gly756Ala)
c.3413G>C (p.Gly1138Ala)
c.3317G>C (p.Gly1106Ala)
c.3221G>C (p.Gly1074Ala)
c.3215G>C (p.Gly1072Ala)
c.3140G>C (p.Gly1047Ala)
c.2276G>C (p.Gly759Ala)
n.3353-177G>C
n.3393G>C
n.3286G>C
c.3503G>C (p.Gly1168Ala)
c.3428G>C (p.Gly1143Ala)
c.3407G>C (p.Gly1136Ala)
c.3305G>C (p.Gly1102Ala)
c.2366G>C (p.Gly789Ala)
n.3439-177G>C
n.3479G>C
n.3370G>C
n.3233G>C
n.3035G>C
 ClinVar
8g.144511966C>TCA4947812RECQL4c.3338G>A (p.Gly1113Glu)
c.355G>A
n.50-177G>A
c.584G>A (p.Gly195Glu)
c.2267G>A (p.Gly756Glu)
c.3413G>A (p.Gly1138Glu)
c.3317G>A (p.Gly1106Glu)
c.3221G>A (p.Gly1074Glu)
c.3215G>A (p.Gly1072Glu)
c.3140G>A (p.Gly1047Glu)
c.2276G>A (p.Gly759Glu)
n.3353-177G>A
n.3393G>A
n.3286G>A
c.3503G>A (p.Gly1168Glu)
c.3428G>A (p.Gly1143Glu)
c.3407G>A (p.Gly1136Glu)
c.3305G>A (p.Gly1102Glu)
c.2366G>A (p.Gly789Glu)
n.3439-177G>A
n.3479G>A
n.3370G>A
n.3233G>A
n.3035G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511967C>ACA372668498RECQL4c.3337G>T (p.Gly1113Trp)
c.354G>T
n.50-178G>T
c.583G>T (p.Gly195Trp)
c.2266G>T (p.Gly756Trp)
c.3412G>T (p.Gly1138Trp)
c.3316G>T (p.Gly1106Trp)
c.3220G>T (p.Gly1074Trp)
c.3214G>T (p.Gly1072Trp)
c.3139G>T (p.Gly1047Trp)
c.2275G>T (p.Gly759Trp)
n.3353-178G>T
n.3392G>T
n.3285G>T
c.3502G>T (p.Gly1168Trp)
c.3427G>T (p.Gly1143Trp)
c.3406G>T (p.Gly1136Trp)
c.3304G>T (p.Gly1102Trp)
c.2365G>T (p.Gly789Trp)
n.3439-178G>T
n.3478G>T
n.3369G>T
n.3232G>T
n.3034G>T
 dbSNP
8g.144511967C=CA1826365497RECQL4c.3337G= (p.Gly1113=)
c.354G=
n.50-178G=
c.583G= (p.Gly195=)
c.2266G= (p.Gly756=)
c.3412G= (p.Gly1138=)
c.3316G= (p.Gly1106=)
c.3220G= (p.Gly1074=)
c.3214G= (p.Gly1072=)
c.3139G= (p.Gly1047=)
c.2275G= (p.Gly759=)
n.3353-178G=
n.3392G=
n.3285G=
c.3502G= (p.Gly1168=)
c.3427G= (p.Gly1143=)
c.3406G= (p.Gly1136=)
c.3304G= (p.Gly1102=)
c.2365G= (p.Gly789=)
n.3439-178G=
n.3478G=
n.3369G=
n.3232G=
n.3034G=
8g.144511967C>GCA161861RECQL4c.3337G>C (p.Gly1113Arg)
c.354G>C
n.50-178G>C
c.583G>C (p.Gly195Arg)
c.2266G>C (p.Gly756Arg)
c.3412G>C (p.Gly1138Arg)
c.3316G>C (p.Gly1106Arg)
c.3220G>C (p.Gly1074Arg)
c.3214G>C (p.Gly1072Arg)
c.3139G>C (p.Gly1047Arg)
c.2275G>C (p.Gly759Arg)
n.3353-178G>C
n.3392G>C
n.3285G>C
c.3502G>C (p.Gly1168Arg)
c.3427G>C (p.Gly1143Arg)
c.3406G>C (p.Gly1136Arg)
c.3304G>C (p.Gly1102Arg)
c.2365G>C (p.Gly789Arg)
n.3439-178G>C
n.3478G>C
n.3369G>C
n.3232G>C
n.3034G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511967C>TCA372668505RECQL4c.3337G>A (p.Gly1113Arg)
c.354G>A
n.50-178G>A
c.583G>A (p.Gly195Arg)
c.2266G>A (p.Gly756Arg)
c.3412G>A (p.Gly1138Arg)
c.3316G>A (p.Gly1106Arg)
c.3220G>A (p.Gly1074Arg)
c.3214G>A (p.Gly1072Arg)
c.3139G>A (p.Gly1047Arg)
c.2275G>A (p.Gly759Arg)
n.3353-178G>A
n.3392G>A
n.3285G>A
c.3502G>A (p.Gly1168Arg)
c.3427G>A (p.Gly1143Arg)
c.3406G>A (p.Gly1136Arg)
c.3304G>A (p.Gly1102Arg)
c.2365G>A (p.Gly789Arg)
n.3439-178G>A
n.3478G>A
n.3369G>A
n.3232G>A
n.3034G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511967_144511968delinsCTCA1826365498RECQL4c.3336_3337delinsAG (p.Glu1112=)
c.353_354delinsAG
n.50-179_50-178delinsAG
c.582_583delinsAG (p.Glu194=)
c.2265_2266delinsAG (p.Glu755=)
c.3411_3412delinsAG (p.Glu1137=)
c.3315_3316delinsAG (p.Glu1105=)
c.3219_3220delinsAG (p.Glu1073=)
c.3213_3214delinsAG (p.Glu1071=)
c.3138_3139delinsAG (p.Glu1046=)
c.2274_2275delinsAG (p.Glu758=)
n.3352+176_3353-178delinsAG
n.3391_3392delinsAG
n.3284_3285delinsAG
c.3501_3502delinsAG (p.Glu1167=)
c.3426_3427delinsAG (p.Glu1142=)
c.3405_3406delinsAG (p.Glu1135=)
c.3303_3304delinsAG (p.Glu1101=)
c.2364_2365delinsAG (p.Glu788=)
n.3438+176_3439-178delinsAG
n.3477_3478delinsAG
n.3368_3369delinsAG
n.3231_3232delinsAG
n.3033_3034delinsAG
8g.144511974_144511979delCA463565861RECQL4c.3332_3337del (p.Glu1111_Glu1112del)
c.349_354del
n.50-183_50-178del
c.578_583del (p.Glu193_Glu194del)
c.2261_2266del (p.Glu754_Glu755del)
c.3407_3412del (p.Glu1136_Glu1137del)
c.3311_3316del (p.Glu1104_Glu1105del)
c.3215_3220del (p.Glu1072_Glu1073del)
c.3209_3214del (p.Glu1070_Glu1071del)
c.3134_3139del (p.Glu1045_Glu1046del)
c.2270_2275del (p.Glu757_Glu758del)
n.3352+172_3353-178del
n.3387_3392del
n.3280_3285del
c.3497_3502del (p.Glu1166_Glu1167del)
c.3422_3427del (p.Glu1141_Glu1142del)
c.3401_3406del (p.Glu1134_Glu1135del)
c.3299_3304del (p.Glu1100_Glu1101del)
c.2360_2365del (p.Glu787_Glu788del)
n.3438+172_3439-178del
n.3473_3478del
n.3364_3369del
n.3227_3232del
n.3029_3034del
 dbSNP
8g.144511968T>ACA372668525RECQL4c.3336A>T (p.Glu1112Asp)
c.353A>T
n.50-179A>T
c.582A>T (p.Glu194Asp)
c.2265A>T (p.Glu755Asp)
c.3411A>T (p.Glu1137Asp)
c.3315A>T (p.Glu1105Asp)
c.3219A>T (p.Glu1073Asp)
c.3213A>T (p.Glu1071Asp)
c.3138A>T (p.Glu1046Asp)
c.2274A>T (p.Glu758Asp)
n.3352+176A>T
n.3391A>T
n.3284A>T
c.3501A>T (p.Glu1167Asp)
c.3426A>T (p.Glu1142Asp)
c.3405A>T (p.Glu1135Asp)
c.3303A>T (p.Glu1101Asp)
c.2364A>T (p.Glu788Asp)
n.3438+176A>T
n.3477A>T
n.3368A>T
n.3231A>T
n.3033A>T
8g.144511968T>CCA463565862RECQL4c.3336A>G (p.Glu1112=)
c.353A>G
n.50-179A>G
c.582A>G (p.Glu194=)
c.2265A>G (p.Glu755=)
c.3411A>G (p.Glu1137=)
c.3315A>G (p.Glu1105=)
c.3219A>G (p.Glu1073=)
c.3213A>G (p.Glu1071=)
c.3138A>G (p.Glu1046=)
c.2274A>G (p.Glu758=)
n.3352+176A>G
n.3391A>G
n.3284A>G
c.3501A>G (p.Glu1167=)
c.3426A>G (p.Glu1142=)
c.3405A>G (p.Glu1135=)
c.3303A>G (p.Glu1101=)
c.2364A>G (p.Glu788=)
n.3438+176A>G
n.3477A>G
n.3368A>G
n.3231A>G
n.3033A>G
8g.144511968T>GCA372668527RECQL4c.3336A>C (p.Glu1112Asp)
c.353A>C
n.50-179A>C
c.582A>C (p.Glu194Asp)
c.2265A>C (p.Glu755Asp)
c.3411A>C (p.Glu1137Asp)
c.3315A>C (p.Glu1105Asp)
c.3219A>C (p.Glu1073Asp)
c.3213A>C (p.Glu1071Asp)
c.3138A>C (p.Glu1046Asp)
c.2274A>C (p.Glu758Asp)
n.3352+176A>C
n.3391A>C
n.3284A>C
c.3501A>C (p.Glu1167Asp)
c.3426A>C (p.Glu1142Asp)
c.3405A>C (p.Glu1135Asp)
c.3303A>C (p.Glu1101Asp)
c.2364A>C (p.Glu788Asp)
n.3438+176A>C
n.3477A>C
n.3368A>C
n.3231A>C
n.3033A>C
8g.144511969delCA1826365499RECQL4c.3336del (p.Gln1114ArgfsTer?)
c.353del
n.50-179del
c.582del (p.Gln196ArgfsTer19)
c.2265del (p.Gln757ArgfsTer?)
c.3411del (p.Gln1139ArgfsTer?)
c.3315del (p.Gln1107ArgfsTer?)
c.3219del (p.Gln1075ArgfsTer?)
c.3213del (p.Gln1073ArgfsTer?)
c.3138del (p.Gln1048ArgfsTer?)
c.2274del (p.Gln760ArgfsTer?)
n.3352+176del
n.3391del
n.3284del
c.3501del (p.Gln1169ArgfsTer19)
c.3426del (p.Gln1144ArgfsTer19)
c.3411del (p.Gln1139ArgfsTer19)
c.3405del (p.Gln1137ArgfsTer19)
c.3336del (p.Gln1114ArgfsTer19)
c.3501del (p.Gln1169ArgfsTer?)
c.3303del (p.Gln1103ArgfsTer19)
c.3426del (p.Gln1144ArgfsTer?)
c.3213del (p.Gln1073ArgfsTer19)
c.2364del (p.Gln790ArgfsTer19)
c.2274del (p.Gln760ArgfsTer19)
n.3438+176del
n.3477del
n.3368del
n.3231del
n.3033del
 dbSNP
8g.144511969T>ACA372668531RECQL4c.3335A>T (p.Glu1112Val)
c.352A>T
n.50-180A>T
c.581A>T (p.Glu194Val)
c.2264A>T (p.Glu755Val)
c.3410A>T (p.Glu1137Val)
c.3314A>T (p.Glu1105Val)
c.3218A>T (p.Glu1073Val)
c.3212A>T (p.Glu1071Val)
c.3137A>T (p.Glu1046Val)
c.2273A>T (p.Glu758Val)
n.3352+175A>T
n.3390A>T
n.3283A>T
c.3500A>T (p.Glu1167Val)
c.3425A>T (p.Glu1142Val)
c.3404A>T (p.Glu1135Val)
c.3302A>T (p.Glu1101Val)
c.2363A>T (p.Glu788Val)
n.3438+175A>T
n.3476A>T
n.3367A>T
n.3230A>T
n.3032A>T
8g.144511969T>CCA372668534RECQL4c.3335A>G (p.Glu1112Gly)
c.352A>G
n.50-180A>G
c.581A>G (p.Glu194Gly)
c.2264A>G (p.Glu755Gly)
c.3410A>G (p.Glu1137Gly)
c.3314A>G (p.Glu1105Gly)
c.3218A>G (p.Glu1073Gly)
c.3212A>G (p.Glu1071Gly)
c.3137A>G (p.Glu1046Gly)
c.2273A>G (p.Glu758Gly)
n.3352+175A>G
n.3390A>G
n.3283A>G
c.3500A>G (p.Glu1167Gly)
c.3425A>G (p.Glu1142Gly)
c.3404A>G (p.Glu1135Gly)
c.3302A>G (p.Glu1101Gly)
c.2363A>G (p.Glu788Gly)
n.3438+175A>G
n.3476A>G
n.3367A>G
n.3230A>G
n.3032A>G
8g.144511969T>GCA372668537RECQL4c.3335A>C (p.Glu1112Ala)
c.352A>C
n.50-180A>C
c.581A>C (p.Glu194Ala)
c.2264A>C (p.Glu755Ala)
c.3410A>C (p.Glu1137Ala)
c.3314A>C (p.Glu1105Ala)
c.3218A>C (p.Glu1073Ala)
c.3212A>C (p.Glu1071Ala)
c.3137A>C (p.Glu1046Ala)
c.2273A>C (p.Glu758Ala)
n.3352+175A>C
n.3390A>C
n.3283A>C
c.3500A>C (p.Glu1167Ala)
c.3425A>C (p.Glu1142Ala)
c.3404A>C (p.Glu1135Ala)
c.3302A>C (p.Glu1101Ala)
c.2363A>C (p.Glu788Ala)
n.3438+175A>C
n.3476A>C
n.3367A>C
n.3230A>C
n.3032A>C
8g.144511970C>ACA187679063RECQL4c.3334G>T (p.Glu1112Ter)
c.351G>T
n.50-181G>T
c.580G>T (p.Glu194Ter)
c.2263G>T (p.Glu755Ter)
c.3409G>T (p.Glu1137Ter)
c.3313G>T (p.Glu1105Ter)
c.3217G>T (p.Glu1073Ter)
c.3211G>T (p.Glu1071Ter)
c.3136G>T (p.Glu1046Ter)
c.2272G>T (p.Glu758Ter)
n.3352+174G>T
n.3389G>T
n.3282G>T
c.3499G>T (p.Glu1167Ter)
c.3424G>T (p.Glu1142Ter)
c.3403G>T (p.Glu1135Ter)
c.3301G>T (p.Glu1101Ter)
c.2362G>T (p.Glu788Ter)
n.3438+174G>T
n.3475G>T
n.3366G>T
n.3229G>T
n.3031G>T
 ClinVar dbSNP
8g.144511970C=CA1826365500RECQL4c.3334G= (p.Glu1112=)
c.351G=
n.50-181G=
c.580G= (p.Glu194=)
c.2263G= (p.Glu755=)
c.3409G= (p.Glu1137=)
c.3313G= (p.Glu1105=)
c.3217G= (p.Glu1073=)
c.3211G= (p.Glu1071=)
c.3136G= (p.Glu1046=)
c.2272G= (p.Glu758=)
n.3352+174G=
n.3389G=
n.3282G=
c.3499G= (p.Glu1167=)
c.3424G= (p.Glu1142=)
c.3403G= (p.Glu1135=)
c.3301G= (p.Glu1101=)
c.2362G= (p.Glu788=)
n.3438+174G=
n.3475G=
n.3366G=
n.3229G=
n.3031G=
8g.144511970C>GCA372668541RECQL4c.3334G>C (p.Glu1112Gln)
c.351G>C
n.50-181G>C
c.580G>C (p.Glu194Gln)
c.2263G>C (p.Glu755Gln)
c.3409G>C (p.Glu1137Gln)
c.3313G>C (p.Glu1105Gln)
c.3217G>C (p.Glu1073Gln)
c.3211G>C (p.Glu1071Gln)
c.3136G>C (p.Glu1046Gln)
c.2272G>C (p.Glu758Gln)
n.3352+174G>C
n.3389G>C
n.3282G>C
c.3499G>C (p.Glu1167Gln)
c.3424G>C (p.Glu1142Gln)
c.3403G>C (p.Glu1135Gln)
c.3301G>C (p.Glu1101Gln)
c.2362G>C (p.Glu788Gln)
n.3438+174G>C
n.3475G>C
n.3366G>C
n.3229G>C
n.3031G>C
8g.144511970C>TCA4947813RECQL4c.3334G>A (p.Glu1112Lys)
c.351G>A
n.50-181G>A
c.580G>A (p.Glu194Lys)
c.2263G>A (p.Glu755Lys)
c.3409G>A (p.Glu1137Lys)
c.3313G>A (p.Glu1105Lys)
c.3217G>A (p.Glu1073Lys)
c.3211G>A (p.Glu1071Lys)
c.3136G>A (p.Glu1046Lys)
c.2272G>A (p.Glu758Lys)
n.3352+174G>A
n.3389G>A
n.3282G>A
c.3499G>A (p.Glu1167Lys)
c.3424G>A (p.Glu1142Lys)
c.3403G>A (p.Glu1135Lys)
c.3301G>A (p.Glu1101Lys)
c.2362G>A (p.Glu788Lys)
n.3438+174G>A
n.3475G>A
n.3366G>A
n.3229G>A
n.3031G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511971delCA2580078781RECQL4c.3334del (p.Glu1112LysfsTer?)
c.351del
n.50-181del
c.580del (p.Glu194LysfsTer21)
c.2263del (p.Glu755LysfsTer?)
c.3409del (p.Glu1137LysfsTer?)
c.3313del (p.Glu1105LysfsTer?)
c.3217del (p.Glu1073LysfsTer?)
c.3211del (p.Glu1071LysfsTer?)
c.3136del (p.Glu1046LysfsTer?)
c.2272del (p.Glu758LysfsTer?)
n.3352+174del
n.3389del
n.3282del
c.3499del (p.Glu1167LysfsTer21)
c.3424del (p.Glu1142LysfsTer21)
c.3409del (p.Glu1137LysfsTer21)
c.3403del (p.Glu1135LysfsTer21)
c.3334del (p.Glu1112LysfsTer21)
c.3499del (p.Glu1167LysfsTer?)
c.3301del (p.Glu1101LysfsTer21)
c.3424del (p.Glu1142LysfsTer?)
c.3211del (p.Glu1071LysfsTer21)
c.2362del (p.Glu788LysfsTer21)
c.2272del (p.Glu758LysfsTer21)
n.3438+174del
n.3475del
n.3366del
n.3229del
n.3031del
 ClinVar
8g.144511970_144511973delCA2689129152RECQL4c.3331_3334del (p.Glu1111LysfsTer?)
c.348_351del
n.50-184_50-181del
c.577_580del (p.Glu193LysfsTer21)
c.2260_2263del (p.Glu754LysfsTer?)
c.3406_3409del (p.Glu1136LysfsTer?)
c.3310_3313del (p.Glu1104LysfsTer?)
c.3214_3217del (p.Glu1072LysfsTer?)
c.3208_3211del (p.Glu1070LysfsTer?)
c.3133_3136del (p.Glu1045LysfsTer?)
c.2269_2272del (p.Glu757LysfsTer?)
n.3352+171_3352+174del
n.3386_3389del
n.3279_3282del
c.3496_3499del (p.Glu1166LysfsTer21)
c.3421_3424del (p.Glu1141LysfsTer21)
c.3406_3409del (p.Glu1136LysfsTer21)
c.3400_3403del (p.Glu1134LysfsTer21)
c.3331_3334del (p.Glu1111LysfsTer21)
c.3496_3499del (p.Glu1166LysfsTer?)
c.3298_3301del (p.Glu1100LysfsTer21)
c.3421_3424del (p.Glu1141LysfsTer?)
c.3208_3211del (p.Glu1070LysfsTer21)
c.2359_2362del (p.Glu787LysfsTer21)
c.2269_2272del (p.Glu757LysfsTer21)
n.3438+171_3438+174del
n.3472_3475del
n.3363_3366del
n.3226_3229del
n.3028_3031del
 gnomAD v4
8g.144511971C>ACA372668546RECQL4c.3333G>T (p.Glu1111Asp)
c.350G>T
n.50-182G>T
c.579G>T (p.Glu193Asp)
c.2262G>T (p.Glu754Asp)
c.3408G>T (p.Glu1136Asp)
c.3312G>T (p.Glu1104Asp)
c.3216G>T (p.Glu1072Asp)
c.3210G>T (p.Glu1070Asp)
c.3135G>T (p.Glu1045Asp)
c.2271G>T (p.Glu757Asp)
n.3352+173G>T
n.3388G>T
n.3281G>T
c.3498G>T (p.Glu1166Asp)
c.3423G>T (p.Glu1141Asp)
c.3402G>T (p.Glu1134Asp)
c.3300G>T (p.Glu1100Asp)
c.2361G>T (p.Glu787Asp)
n.3438+173G>T
n.3474G>T
n.3365G>T
n.3228G>T
n.3030G>T
8g.144511971C=CA1826365501RECQL4c.3333G= (p.Glu1111=)
c.350G=
n.50-182G=
c.579G= (p.Glu193=)
c.2262G= (p.Glu754=)
c.3408G= (p.Glu1136=)
c.3312G= (p.Glu1104=)
c.3216G= (p.Glu1072=)
c.3210G= (p.Glu1070=)
c.3135G= (p.Glu1045=)
c.2271G= (p.Glu757=)
n.3352+173G=
n.3388G=
n.3281G=
c.3498G= (p.Glu1166=)
c.3423G= (p.Glu1141=)
c.3402G= (p.Glu1134=)
c.3300G= (p.Glu1100=)
c.2361G= (p.Glu787=)
n.3438+173G=
n.3474G=
n.3365G=
n.3228G=
n.3030G=
8g.144511971C>GCA372668549RECQL4c.3333G>C (p.Glu1111Asp)
c.350G>C
n.50-182G>C
c.579G>C (p.Glu193Asp)
c.2262G>C (p.Glu754Asp)
c.3408G>C (p.Glu1136Asp)
c.3312G>C (p.Glu1104Asp)
c.3216G>C (p.Glu1072Asp)
c.3210G>C (p.Glu1070Asp)
c.3135G>C (p.Glu1045Asp)
c.2271G>C (p.Glu757Asp)
n.3352+173G>C
n.3388G>C
n.3281G>C
c.3498G>C (p.Glu1166Asp)
c.3423G>C (p.Glu1141Asp)
c.3402G>C (p.Glu1134Asp)
c.3300G>C (p.Glu1100Asp)
c.2361G>C (p.Glu787Asp)
n.3438+173G>C
n.3474G>C
n.3365G>C
n.3228G>C
n.3030G>C
 ClinVar dbSNP
8g.144511971C>TCA463565863RECQL4c.3333G>A (p.Glu1111=)
c.350G>A
n.50-182G>A
c.579G>A (p.Glu193=)
c.2262G>A (p.Glu754=)
c.3408G>A (p.Glu1136=)
c.3312G>A (p.Glu1104=)
c.3216G>A (p.Glu1072=)
c.3210G>A (p.Glu1070=)
c.3135G>A (p.Glu1045=)
c.2271G>A (p.Glu757=)
n.3352+173G>A
n.3388G>A
n.3281G>A
c.3498G>A (p.Glu1166=)
c.3423G>A (p.Glu1141=)
c.3402G>A (p.Glu1134=)
c.3300G>A (p.Glu1100=)
c.2361G>A (p.Glu787=)
n.3438+173G>A
n.3474G>A
n.3365G>A
n.3228G>A
n.3030G>A
 ClinVar dbSNP
8g.144511972T>ACA372668550RECQL4c.3332A>T (p.Glu1111Val)
c.349A>T
n.50-183A>T
c.578A>T (p.Glu193Val)
c.2261A>T (p.Glu754Val)
c.3407A>T (p.Glu1136Val)
c.3311A>T (p.Glu1104Val)
c.3215A>T (p.Glu1072Val)
c.3209A>T (p.Glu1070Val)
c.3134A>T (p.Glu1045Val)
c.2270A>T (p.Glu757Val)
n.3352+172A>T
n.3387A>T
n.3280A>T
c.3497A>T (p.Glu1166Val)
c.3422A>T (p.Glu1141Val)
c.3401A>T (p.Glu1134Val)
c.3299A>T (p.Glu1100Val)
c.2360A>T (p.Glu787Val)
n.3438+172A>T
n.3473A>T
n.3364A>T
n.3227A>T
n.3029A>T
8g.144511972T>CCA372668551RECQL4c.3332A>G (p.Glu1111Gly)
c.349A>G
n.50-183A>G
c.578A>G (p.Glu193Gly)
c.2261A>G (p.Glu754Gly)
c.3407A>G (p.Glu1136Gly)
c.3311A>G (p.Glu1104Gly)
c.3215A>G (p.Glu1072Gly)
c.3209A>G (p.Glu1070Gly)
c.3134A>G (p.Glu1045Gly)
c.2270A>G (p.Glu757Gly)
n.3352+172A>G
n.3387A>G
n.3280A>G
c.3497A>G (p.Glu1166Gly)
c.3422A>G (p.Glu1141Gly)
c.3401A>G (p.Glu1134Gly)
c.3299A>G (p.Glu1100Gly)
c.2360A>G (p.Glu787Gly)
n.3438+172A>G
n.3473A>G
n.3364A>G
n.3227A>G
n.3029A>G
 dbSNP
8g.144511972T>GCA372668552RECQL4c.3332A>C (p.Glu1111Ala)
c.349A>C
n.50-183A>C
c.578A>C (p.Glu193Ala)
c.2261A>C (p.Glu754Ala)
c.3407A>C (p.Glu1136Ala)
c.3311A>C (p.Glu1104Ala)
c.3215A>C (p.Glu1072Ala)
c.3209A>C (p.Glu1070Ala)
c.3134A>C (p.Glu1045Ala)
c.2270A>C (p.Glu757Ala)
n.3352+172A>C
n.3387A>C
n.3280A>C
c.3497A>C (p.Glu1166Ala)
c.3422A>C (p.Glu1141Ala)
c.3401A>C (p.Glu1134Ala)
c.3299A>C (p.Glu1100Ala)
c.2360A>C (p.Glu787Ala)
n.3438+172A>C
n.3473A>C
n.3364A>C
n.3227A>C
n.3029A>C
8g.144511973C>ACA372668562RECQL4c.3331G>T (p.Glu1111Ter)
c.348G>T
n.50-184G>T
c.577G>T (p.Glu193Ter)
c.2260G>T (p.Glu754Ter)
c.3406G>T (p.Glu1136Ter)
c.3310G>T (p.Glu1104Ter)
c.3214G>T (p.Glu1072Ter)
c.3208G>T (p.Glu1070Ter)
c.3133G>T (p.Glu1045Ter)
c.2269G>T (p.Glu757Ter)
n.3352+171G>T
n.3386G>T
n.3279G>T
c.3496G>T (p.Glu1166Ter)
c.3421G>T (p.Glu1141Ter)
c.3400G>T (p.Glu1134Ter)
c.3298G>T (p.Glu1100Ter)
c.2359G>T (p.Glu787Ter)
n.3438+171G>T
n.3472G>T
n.3363G>T
n.3226G>T
n.3028G>T
 ClinVar dbSNP gnomAD v4
8g.144511973C=CA1826365502RECQL4c.3331G= (p.Glu1111=)
c.348G=
n.50-184G=
c.577G= (p.Glu193=)
c.2260G= (p.Glu754=)
c.3406G= (p.Glu1136=)
c.3310G= (p.Glu1104=)
c.3214G= (p.Glu1072=)
c.3208G= (p.Glu1070=)
c.3133G= (p.Glu1045=)
c.2269G= (p.Glu757=)
n.3352+171G=
n.3386G=
n.3279G=
c.3496G= (p.Glu1166=)
c.3421G= (p.Glu1141=)
c.3400G= (p.Glu1134=)
c.3298G= (p.Glu1100=)
c.2359G= (p.Glu787=)
n.3438+171G=
n.3472G=
n.3363G=
n.3226G=
n.3028G=
8g.144511973C>GCA372668557RECQL4c.3331G>C (p.Glu1111Gln)
c.348G>C
n.50-184G>C
c.577G>C (p.Glu193Gln)
c.2260G>C (p.Glu754Gln)
c.3406G>C (p.Glu1136Gln)
c.3310G>C (p.Glu1104Gln)
c.3214G>C (p.Glu1072Gln)
c.3208G>C (p.Glu1070Gln)
c.3133G>C (p.Glu1045Gln)
c.2269G>C (p.Glu757Gln)
n.3352+171G>C
n.3386G>C
n.3279G>C
c.3496G>C (p.Glu1166Gln)
c.3421G>C (p.Glu1141Gln)
c.3400G>C (p.Glu1134Gln)
c.3298G>C (p.Glu1100Gln)
c.2359G>C (p.Glu787Gln)
n.3438+171G>C
n.3472G>C
n.3363G>C
n.3226G>C
n.3028G>C
 gnomAD v4
8g.144511973C>TCA372668558RECQL4c.3331G>A (p.Glu1111Lys)
c.348G>A
n.50-184G>A
c.577G>A (p.Glu193Lys)
c.2260G>A (p.Glu754Lys)
c.3406G>A (p.Glu1136Lys)
c.3310G>A (p.Glu1104Lys)
c.3214G>A (p.Glu1072Lys)
c.3208G>A (p.Glu1070Lys)
c.3133G>A (p.Glu1045Lys)
c.2269G>A (p.Glu757Lys)
n.3352+171G>A
n.3386G>A
n.3279G>A
c.3496G>A (p.Glu1166Lys)
c.3421G>A (p.Glu1141Lys)
c.3400G>A (p.Glu1134Lys)
c.3298G>A (p.Glu1100Lys)
c.2359G>A (p.Glu787Lys)
n.3438+171G>A
n.3472G>A
n.3363G>A
n.3226G>A
n.3028G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511974T>ACA372668568RECQL4c.3330A>T (p.Glu1110Asp)
c.347A>T
n.50-185A>T
c.576A>T (p.Glu192Asp)
c.2259A>T (p.Glu753Asp)
c.3405A>T (p.Glu1135Asp)
c.3309A>T (p.Glu1103Asp)
c.3213A>T (p.Glu1071Asp)
c.3207A>T (p.Glu1069Asp)
c.3132A>T (p.Glu1044Asp)
c.2268A>T (p.Glu756Asp)
n.3352+170A>T
n.3385A>T
n.3278A>T
c.3495A>T (p.Glu1165Asp)
c.3420A>T (p.Glu1140Asp)
c.3399A>T (p.Glu1133Asp)
c.3297A>T (p.Glu1099Asp)
c.2358A>T (p.Glu786Asp)
n.3438+170A>T
n.3471A>T
n.3362A>T
n.3225A>T
n.3027A>T
8g.144511974T>CCA4947814RECQL4c.3330A>G (p.Glu1110=)
c.347A>G
n.50-185A>G
c.576A>G (p.Glu192=)
c.2259A>G (p.Glu753=)
c.3405A>G (p.Glu1135=)
c.3309A>G (p.Glu1103=)
c.3213A>G (p.Glu1071=)
c.3207A>G (p.Glu1069=)
c.3132A>G (p.Glu1044=)
c.2268A>G (p.Glu756=)
n.3352+170A>G
n.3385A>G
n.3278A>G
c.3495A>G (p.Glu1165=)
c.3420A>G (p.Glu1140=)
c.3399A>G (p.Glu1133=)
c.3297A>G (p.Glu1099=)
c.2358A>G (p.Glu786=)
n.3438+170A>G
n.3471A>G
n.3362A>G
n.3225A>G
n.3027A>G
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
8g.144511974T>GCA372668569RECQL4c.3330A>C (p.Glu1110Asp)
c.347A>C
n.50-185A>C
c.576A>C (p.Glu192Asp)
c.2259A>C (p.Glu753Asp)
c.3405A>C (p.Glu1135Asp)
c.3309A>C (p.Glu1103Asp)
c.3213A>C (p.Glu1071Asp)
c.3207A>C (p.Glu1069Asp)
c.3132A>C (p.Glu1044Asp)
c.2268A>C (p.Glu756Asp)
n.3352+170A>C
n.3385A>C
n.3278A>C
c.3495A>C (p.Glu1165Asp)
c.3420A>C (p.Glu1140Asp)
c.3399A>C (p.Glu1133Asp)
c.3297A>C (p.Glu1099Asp)
c.2358A>C (p.Glu786Asp)
n.3438+170A>C
n.3471A>C
n.3362A>C
n.3225A>C
n.3027A>C
8g.144511974T=CA1826365503RECQL4c.3330A= (p.Glu1110=)
c.347A=
n.50-185A=
c.576A= (p.Glu192=)
c.2259A= (p.Glu753=)
c.3405A= (p.Glu1135=)
c.3309A= (p.Glu1103=)
c.3213A= (p.Glu1071=)
c.3207A= (p.Glu1069=)
c.3132A= (p.Glu1044=)
c.2268A= (p.Glu756=)
n.3352+170A=
n.3385A=
n.3278A=
c.3495A= (p.Glu1165=)
c.3420A= (p.Glu1140=)
c.3399A= (p.Glu1133=)
c.3297A= (p.Glu1099=)
c.2358A= (p.Glu786=)
n.3438+170A=
n.3471A=
n.3362A=
n.3225A=
n.3027A=
8g.144511975dupCA2573143048RECQL4c.3330dup (p.Glu1111ArgfsTer?)
c.347dup
n.50-185dup
c.576dup (p.Glu193ArgfsTer?)
c.2259dup (p.Glu754ArgfsTer?)
c.3405dup (p.Glu1136ArgfsTer?)
c.3309dup (p.Glu1104ArgfsTer?)
c.3213dup (p.Glu1072ArgfsTer?)
c.3207dup (p.Glu1070ArgfsTer?)
c.3132dup (p.Glu1045ArgfsTer?)
c.2268dup (p.Glu757ArgfsTer?)
n.3352+170dup
n.3385dup
n.3278dup
c.3495dup (p.Glu1166ArgfsTer?)
c.3420dup (p.Glu1141ArgfsTer?)
c.3399dup (p.Glu1134ArgfsTer?)
c.3297dup (p.Glu1100ArgfsTer?)
c.2358dup (p.Glu787ArgfsTer?)
n.3438+170dup
n.3471dup
n.3362dup
n.3225dup
n.3027dup
 ClinVar dbSNP gnomAD v4
8g.144511975T>ACA372668570RECQL4c.3329A>T (p.Glu1110Val)
c.346A>T
n.50-186A>T
c.575A>T (p.Glu192Val)
c.2258A>T (p.Glu753Val)
c.3404A>T (p.Glu1135Val)
c.3308A>T (p.Glu1103Val)
c.3212A>T (p.Glu1071Val)
c.3206A>T (p.Glu1069Val)
c.3131A>T (p.Glu1044Val)
c.2267A>T (p.Glu756Val)
n.3352+169A>T
n.3384A>T
n.3277A>T
c.3494A>T (p.Glu1165Val)
c.3419A>T (p.Glu1140Val)
c.3398A>T (p.Glu1133Val)
c.3296A>T (p.Glu1099Val)
c.2357A>T (p.Glu786Val)
n.3438+169A>T
n.3470A>T
n.3361A>T
n.3224A>T
n.3026A>T
8g.144511975T>CCA372668572RECQL4c.3329A>G (p.Glu1110Gly)
c.346A>G
n.50-186A>G
c.575A>G (p.Glu192Gly)
c.2258A>G (p.Glu753Gly)
c.3404A>G (p.Glu1135Gly)
c.3308A>G (p.Glu1103Gly)
c.3212A>G (p.Glu1071Gly)
c.3206A>G (p.Glu1069Gly)
c.3131A>G (p.Glu1044Gly)
c.2267A>G (p.Glu756Gly)
n.3352+169A>G
n.3384A>G
n.3277A>G
c.3494A>G (p.Glu1165Gly)
c.3419A>G (p.Glu1140Gly)
c.3398A>G (p.Glu1133Gly)
c.3296A>G (p.Glu1099Gly)
c.2357A>G (p.Glu786Gly)
n.3438+169A>G
n.3470A>G
n.3361A>G
n.3224A>G
n.3026A>G
 ClinVar dbSNP
8g.144511975T>GCA372668574RECQL4c.3329A>C (p.Glu1110Ala)
c.346A>C
n.50-186A>C
c.575A>C (p.Glu192Ala)
c.2258A>C (p.Glu753Ala)
c.3404A>C (p.Glu1135Ala)
c.3308A>C (p.Glu1103Ala)
c.3212A>C (p.Glu1071Ala)
c.3206A>C (p.Glu1069Ala)
c.3131A>C (p.Glu1044Ala)
c.2267A>C (p.Glu756Ala)
n.3352+169A>C
n.3384A>C
n.3277A>C
c.3494A>C (p.Glu1165Ala)
c.3419A>C (p.Glu1140Ala)
c.3398A>C (p.Glu1133Ala)
c.3296A>C (p.Glu1099Ala)
c.2357A>C (p.Glu786Ala)
n.3438+169A>C
n.3470A>C
n.3361A>C
n.3224A>C
n.3026A>C
8g.144511975T=CA1826365504RECQL4c.3329A= (p.Glu1110=)
c.346A=
n.50-186A=
c.575A= (p.Glu192=)
c.2258A= (p.Glu753=)
c.3404A= (p.Glu1135=)
c.3308A= (p.Glu1103=)
c.3212A= (p.Glu1071=)
c.3206A= (p.Glu1069=)
c.3131A= (p.Glu1044=)
c.2267A= (p.Glu756=)
n.3352+169A=
n.3384A=
n.3277A=
c.3494A= (p.Glu1165=)
c.3419A= (p.Glu1140=)
c.3398A= (p.Glu1133=)
c.3296A= (p.Glu1099=)
c.2357A= (p.Glu786=)
n.3438+169A=
n.3470A=
n.3361A=
n.3224A=
n.3026A=
8g.144511976C>ACA372668579RECQL4c.3328G>T (p.Glu1110Ter)
c.345G>T
n.50-187G>T
c.574G>T (p.Glu192Ter)
c.2257G>T (p.Glu753Ter)
c.3403G>T (p.Glu1135Ter)
c.3307G>T (p.Glu1103Ter)
c.3211G>T (p.Glu1071Ter)
c.3205G>T (p.Glu1069Ter)
c.3130G>T (p.Glu1044Ter)
c.2266G>T (p.Glu756Ter)
n.3352+168G>T
n.3383G>T
n.3276G>T
c.3493G>T (p.Glu1165Ter)
c.3418G>T (p.Glu1140Ter)
c.3397G>T (p.Glu1133Ter)
c.3295G>T (p.Glu1099Ter)
c.2356G>T (p.Glu786Ter)
n.3438+168G>T
n.3469G>T
n.3360G>T
n.3223G>T
n.3025G>T
8g.144511976C=CA1826365505RECQL4c.3328G= (p.Glu1110=)
c.345G=
n.50-187G=
c.574G= (p.Glu192=)
c.2257G= (p.Glu753=)
c.3403G= (p.Glu1135=)
c.3307G= (p.Glu1103=)
c.3211G= (p.Glu1071=)
c.3205G= (p.Glu1069=)
c.3130G= (p.Glu1044=)
c.2266G= (p.Glu756=)
n.3352+168G=
n.3383G=
n.3276G=
c.3493G= (p.Glu1165=)
c.3418G= (p.Glu1140=)
c.3397G= (p.Glu1133=)
c.3295G= (p.Glu1099=)
c.2356G= (p.Glu786=)
n.3438+168G=
n.3469G=
n.3360G=
n.3223G=
n.3025G=
8g.144511976C>GCA372668581RECQL4c.3328G>C (p.Glu1110Gln)
c.345G>C
n.50-187G>C
c.574G>C (p.Glu192Gln)
c.2257G>C (p.Glu753Gln)
c.3403G>C (p.Glu1135Gln)
c.3307G>C (p.Glu1103Gln)
c.3211G>C (p.Glu1071Gln)
c.3205G>C (p.Glu1069Gln)
c.3130G>C (p.Glu1044Gln)
c.2266G>C (p.Glu756Gln)
n.3352+168G>C
n.3383G>C
n.3276G>C
c.3493G>C (p.Glu1165Gln)
c.3418G>C (p.Glu1140Gln)
c.3397G>C (p.Glu1133Gln)
c.3295G>C (p.Glu1099Gln)
c.2356G>C (p.Glu786Gln)
n.3438+168G>C
n.3469G>C
n.3360G>C
n.3223G>C
n.3025G>C
8g.144511976C>TCA4947815RECQL4c.3328G>A (p.Glu1110Lys)
c.345G>A
n.50-187G>A
c.574G>A (p.Glu192Lys)
c.2257G>A (p.Glu753Lys)
c.3403G>A (p.Glu1135Lys)
c.3307G>A (p.Glu1103Lys)
c.3211G>A (p.Glu1071Lys)
c.3205G>A (p.Glu1069Lys)
c.3130G>A (p.Glu1044Lys)
c.2266G>A (p.Glu756Lys)
n.3352+168G>A
n.3383G>A
n.3276G>A
c.3493G>A (p.Glu1165Lys)
c.3418G>A (p.Glu1140Lys)
c.3397G>A (p.Glu1133Lys)
c.3295G>A (p.Glu1099Lys)
c.2356G>A (p.Glu786Lys)
n.3438+168G>A
n.3469G>A
n.3360G>A
n.3223G>A
n.3025G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511977C>ACA372668588RECQL4c.3327G>T (p.Glu1109Asp)
c.344G>T
n.50-188G>T
c.573G>T (p.Glu191Asp)
c.2256G>T (p.Glu752Asp)
c.3402G>T (p.Glu1134Asp)
c.3306G>T (p.Glu1102Asp)
c.3210G>T (p.Glu1070Asp)
c.3204G>T (p.Glu1068Asp)
c.3129G>T (p.Glu1043Asp)
c.2265G>T (p.Glu755Asp)
n.3352+167G>T
n.3382G>T
n.3275G>T
c.3492G>T (p.Glu1164Asp)
c.3417G>T (p.Glu1139Asp)
c.3396G>T (p.Glu1132Asp)
c.3294G>T (p.Glu1098Asp)
c.2355G>T (p.Glu785Asp)
n.3438+167G>T
n.3468G>T
n.3359G>T
n.3222G>T
n.3024G>T
8g.144511977C=CA1826365506RECQL4c.3327G= (p.Glu1109=)
c.344G=
n.50-188G=
c.573G= (p.Glu191=)
c.2256G= (p.Glu752=)
c.3402G= (p.Glu1134=)
c.3306G= (p.Glu1102=)
c.3210G= (p.Glu1070=)
c.3204G= (p.Glu1068=)
c.3129G= (p.Glu1043=)
c.2265G= (p.Glu755=)
n.3352+167G=
n.3382G=
n.3275G=
c.3492G= (p.Glu1164=)
c.3417G= (p.Glu1139=)
c.3396G= (p.Glu1132=)
c.3294G= (p.Glu1098=)
c.2355G= (p.Glu785=)
n.3438+167G=
n.3468G=
n.3359G=
n.3222G=
n.3024G=
8g.144511977C>GCA372668591RECQL4c.3327G>C (p.Glu1109Asp)
c.344G>C
n.50-188G>C
c.573G>C (p.Glu191Asp)
c.2256G>C (p.Glu752Asp)
c.3402G>C (p.Glu1134Asp)
c.3306G>C (p.Glu1102Asp)
c.3210G>C (p.Glu1070Asp)
c.3204G>C (p.Glu1068Asp)
c.3129G>C (p.Glu1043Asp)
c.2265G>C (p.Glu755Asp)
n.3352+167G>C
n.3382G>C
n.3275G>C
c.3492G>C (p.Glu1164Asp)
c.3417G>C (p.Glu1139Asp)
c.3396G>C (p.Glu1132Asp)
c.3294G>C (p.Glu1098Asp)
c.2355G>C (p.Glu785Asp)
n.3438+167G>C
n.3468G>C
n.3359G>C
n.3222G>C
n.3024G>C
8g.144511977C>TCA187679077RECQL4c.3327G>A (p.Glu1109=)
c.344G>A
n.50-188G>A
c.573G>A (p.Glu191=)
c.2256G>A (p.Glu752=)
c.3402G>A (p.Glu1134=)
c.3306G>A (p.Glu1102=)
c.3210G>A (p.Glu1070=)
c.3204G>A (p.Glu1068=)
c.3129G>A (p.Glu1043=)
c.2265G>A (p.Glu755=)
n.3352+167G>A
n.3382G>A
n.3275G>A
c.3492G>A (p.Glu1164=)
c.3417G>A (p.Glu1139=)
c.3396G>A (p.Glu1132=)
c.3294G>A (p.Glu1098=)
c.2355G>A (p.Glu785=)
n.3438+167G>A
n.3468G>A
n.3359G>A
n.3222G>A
n.3024G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511978T>ACA372668617RECQL4c.3326A>T (p.Glu1109Val)
c.343A>T
n.50-189A>T
c.572A>T (p.Glu191Val)
c.2255A>T (p.Glu752Val)
c.3401A>T (p.Glu1134Val)
c.3305A>T (p.Glu1102Val)
c.3209A>T (p.Glu1070Val)
c.3203A>T (p.Glu1068Val)
c.3128A>T (p.Glu1043Val)
c.2264A>T (p.Glu755Val)
n.3352+166A>T
n.3381A>T
n.3274A>T
c.3491A>T (p.Glu1164Val)
c.3416A>T (p.Glu1139Val)
c.3395A>T (p.Glu1132Val)
c.3293A>T (p.Glu1098Val)
c.2354A>T (p.Glu785Val)
n.3438+166A>T
n.3467A>T
n.3358A>T
n.3221A>T
n.3023A>T
8g.144511978T>CCA372668619RECQL4c.3326A>G (p.Glu1109Gly)
c.343A>G
n.50-189A>G
c.572A>G (p.Glu191Gly)
c.2255A>G (p.Glu752Gly)
c.3401A>G (p.Glu1134Gly)
c.3305A>G (p.Glu1102Gly)
c.3209A>G (p.Glu1070Gly)
c.3203A>G (p.Glu1068Gly)
c.3128A>G (p.Glu1043Gly)
c.2264A>G (p.Glu755Gly)
n.3352+166A>G
n.3381A>G
n.3274A>G
c.3491A>G (p.Glu1164Gly)
c.3416A>G (p.Glu1139Gly)
c.3395A>G (p.Glu1132Gly)
c.3293A>G (p.Glu1098Gly)
c.2354A>G (p.Glu785Gly)
n.3438+166A>G
n.3467A>G
n.3358A>G
n.3221A>G
n.3023A>G
 dbSNP gnomAD v2 gnomAD v4
8g.144511978T>GCA372668613RECQL4c.3326A>C (p.Glu1109Ala)
c.343A>C
n.50-189A>C
c.572A>C (p.Glu191Ala)
c.2255A>C (p.Glu752Ala)
c.3401A>C (p.Glu1134Ala)
c.3305A>C (p.Glu1102Ala)
c.3209A>C (p.Glu1070Ala)
c.3203A>C (p.Glu1068Ala)
c.3128A>C (p.Glu1043Ala)
c.2264A>C (p.Glu755Ala)
n.3352+166A>C
n.3381A>C
n.3274A>C
c.3491A>C (p.Glu1164Ala)
c.3416A>C (p.Glu1139Ala)
c.3395A>C (p.Glu1132Ala)
c.3293A>C (p.Glu1098Ala)
c.2354A>C (p.Glu785Ala)
n.3438+166A>C
n.3467A>C
n.3358A>C
n.3221A>C
n.3023A>C
 ClinVar dbSNP
8g.144511978T=CA1826365507RECQL4c.3326A= (p.Glu1109=)
c.343A=
n.50-189A=
c.572A= (p.Glu191=)
c.2255A= (p.Glu752=)
c.3401A= (p.Glu1134=)
c.3305A= (p.Glu1102=)
c.3209A= (p.Glu1070=)
c.3203A= (p.Glu1068=)
c.3128A= (p.Glu1043=)
c.2264A= (p.Glu755=)
n.3352+166A=
n.3381A=
n.3274A=
c.3491A= (p.Glu1164=)
c.3416A= (p.Glu1139=)
c.3395A= (p.Glu1132=)
c.3293A= (p.Glu1098=)
c.2354A= (p.Glu785=)
n.3438+166A=
n.3467A=
n.3358A=
n.3221A=
n.3023A=
8g.144511979C>ACA372668625RECQL4c.3325G>T (p.Glu1109Ter)
c.342G>T
n.50-190G>T
c.571G>T (p.Glu191Ter)
c.2254G>T (p.Glu752Ter)
c.3400G>T (p.Glu1134Ter)
c.3304G>T (p.Glu1102Ter)
c.3208G>T (p.Glu1070Ter)
c.3202G>T (p.Glu1068Ter)
c.3127G>T (p.Glu1043Ter)
c.2263G>T (p.Glu755Ter)
n.3352+165G>T
n.3380G>T
n.3273G>T
c.3490G>T (p.Glu1164Ter)
c.3415G>T (p.Glu1139Ter)
c.3394G>T (p.Glu1132Ter)
c.3292G>T (p.Glu1098Ter)
c.2353G>T (p.Glu785Ter)
n.3438+165G>T
n.3466G>T
n.3357G>T
n.3220G>T
n.3022G>T
8g.144511979C=CA1826365508RECQL4c.3325G= (p.Glu1109=)
c.342G=
n.50-190G=
c.571G= (p.Glu191=)
c.2254G= (p.Glu752=)
c.3400G= (p.Glu1134=)
c.3304G= (p.Glu1102=)
c.3208G= (p.Glu1070=)
c.3202G= (p.Glu1068=)
c.3127G= (p.Glu1043=)
c.2263G= (p.Glu755=)
n.3352+165G=
n.3380G=
n.3273G=
c.3490G= (p.Glu1164=)
c.3415G= (p.Glu1139=)
c.3394G= (p.Glu1132=)
c.3292G= (p.Glu1098=)
c.2353G= (p.Glu785=)
n.3438+165G=
n.3466G=
n.3357G=
n.3220G=
n.3022G=
8g.144511979C>GCA372668630RECQL4c.3325G>C (p.Glu1109Gln)
c.342G>C
n.50-190G>C
c.571G>C (p.Glu191Gln)
c.2254G>C (p.Glu752Gln)
c.3400G>C (p.Glu1134Gln)
c.3304G>C (p.Glu1102Gln)
c.3208G>C (p.Glu1070Gln)
c.3202G>C (p.Glu1068Gln)
c.3127G>C (p.Glu1043Gln)
c.2263G>C (p.Glu755Gln)
n.3352+165G>C
n.3380G>C
n.3273G>C
c.3490G>C (p.Glu1164Gln)
c.3415G>C (p.Glu1139Gln)
c.3394G>C (p.Glu1132Gln)
c.3292G>C (p.Glu1098Gln)
c.2353G>C (p.Glu785Gln)
n.3438+165G>C
n.3466G>C
n.3357G>C
n.3220G>C
n.3022G>C
 ClinVar dbSNP COSMIC
8g.144511979C>TCA372668633RECQL4c.3325G>A (p.Glu1109Lys)
c.342G>A
n.50-190G>A
c.571G>A (p.Glu191Lys)
c.2254G>A (p.Glu752Lys)
c.3400G>A (p.Glu1134Lys)
c.3304G>A (p.Glu1102Lys)
c.3208G>A (p.Glu1070Lys)
c.3202G>A (p.Glu1068Lys)
c.3127G>A (p.Glu1043Lys)
c.2263G>A (p.Glu755Lys)
n.3352+165G>A
n.3380G>A
n.3273G>A
c.3490G>A (p.Glu1164Lys)
c.3415G>A (p.Glu1139Lys)
c.3394G>A (p.Glu1132Lys)
c.3292G>A (p.Glu1098Lys)
c.2353G>A (p.Glu785Lys)
n.3438+165G>A
n.3466G>A
n.3357G>A
n.3220G>A
n.3022G>A
 ClinVar dbSNP
8g.144511979_144511980insTTCA2573143049RECQL4c.3324_3325insAA (p.Glu1109LysfsTer?)
c.341_342insAA
n.50-191_50-190insAA
c.570_571insAA (p.Glu191LysfsTer25)
c.2253_2254insAA (p.Glu752LysfsTer?)
c.3399_3400insAA (p.Glu1134LysfsTer?)
c.3303_3304insAA (p.Glu1102LysfsTer?)
c.3207_3208insAA (p.Glu1070LysfsTer?)
c.3201_3202insAA (p.Glu1068LysfsTer?)
c.3126_3127insAA (p.Glu1043LysfsTer?)
c.2262_2263insAA (p.Glu755LysfsTer?)
n.3352+164_3352+165insAA
n.3379_3380insAA
n.3272_3273insAA
c.3489_3490insAA (p.Glu1164LysfsTer25)
c.3414_3415insAA (p.Glu1139LysfsTer25)
c.3399_3400insAA (p.Glu1134LysfsTer25)
c.3393_3394insAA (p.Glu1132LysfsTer25)
c.3324_3325insAA (p.Glu1109LysfsTer25)
c.3489_3490insAA (p.Glu1164LysfsTer?)
c.3291_3292insAA (p.Glu1098LysfsTer25)
c.3414_3415insAA (p.Glu1139LysfsTer?)
c.3201_3202insAA (p.Glu1068LysfsTer25)
c.2352_2353insAA (p.Glu785LysfsTer25)
c.2262_2263insAA (p.Glu755LysfsTer25)
n.3438+164_3438+165insAA
n.3465_3466insAA
n.3356_3357insAA
n.3219_3220insAA
n.3021_3022insAA
 ClinVar dbSNP
8g.144511980A=CA1826365509RECQL4c.3324T= (p.Phe1108=)
c.341T=
n.50-191T=
c.570T= (p.Phe190=)
c.2253T= (p.Phe751=)
c.3399T= (p.Phe1133=)
c.3303T= (p.Phe1101=)
c.3207T= (p.Phe1069=)
c.3201T= (p.Phe1067=)
c.3126T= (p.Phe1042=)
c.2262T= (p.Phe754=)
n.3352+164T=
n.3379T=
n.3272T=
c.3489T= (p.Phe1163=)
c.3414T= (p.Phe1138=)
c.3393T= (p.Phe1131=)
c.3291T= (p.Phe1097=)
c.2352T= (p.Phe784=)
n.3438+164T=
n.3465T=
n.3356T=
n.3219T=
n.3021T=
8g.144511980A>CCA372668639RECQL4c.3324T>G (p.Phe1108Leu)
c.341T>G
n.50-191T>G
c.570T>G (p.Phe190Leu)
c.2253T>G (p.Phe751Leu)
c.3399T>G (p.Phe1133Leu)
c.3303T>G (p.Phe1101Leu)
c.3207T>G (p.Phe1069Leu)
c.3201T>G (p.Phe1067Leu)
c.3126T>G (p.Phe1042Leu)
c.2262T>G (p.Phe754Leu)
n.3352+164T>G
n.3379T>G
n.3272T>G
c.3489T>G (p.Phe1163Leu)
c.3414T>G (p.Phe1138Leu)
c.3393T>G (p.Phe1131Leu)
c.3291T>G (p.Phe1097Leu)
c.2352T>G (p.Phe784Leu)
n.3438+164T>G
n.3465T>G
n.3356T>G
n.3219T>G
n.3021T>G
 dbSNP
8g.144511980A>GCA463565867RECQL4c.3324T>C (p.Phe1108=)
c.341T>C
n.50-191T>C
c.570T>C (p.Phe190=)
c.2253T>C (p.Phe751=)
c.3399T>C (p.Phe1133=)
c.3303T>C (p.Phe1101=)
c.3207T>C (p.Phe1069=)
c.3201T>C (p.Phe1067=)
c.3126T>C (p.Phe1042=)
c.2262T>C (p.Phe754=)
n.3352+164T>C
n.3379T>C
n.3272T>C
c.3489T>C (p.Phe1163=)
c.3414T>C (p.Phe1138=)
c.3393T>C (p.Phe1131=)
c.3291T>C (p.Phe1097=)
c.2352T>C (p.Phe784=)
n.3438+164T>C
n.3465T>C
n.3356T>C
n.3219T>C
n.3021T>C
 ClinVar dbSNP gnomAD v2
8g.144511980A>TCA372668642RECQL4c.3324T>A (p.Phe1108Leu)
c.341T>A
n.50-191T>A
c.570T>A (p.Phe190Leu)
c.2253T>A (p.Phe751Leu)
c.3399T>A (p.Phe1133Leu)
c.3303T>A (p.Phe1101Leu)
c.3207T>A (p.Phe1069Leu)
c.3201T>A (p.Phe1067Leu)
c.3126T>A (p.Phe1042Leu)
c.2262T>A (p.Phe754Leu)
n.3352+164T>A
n.3379T>A
n.3272T>A
c.3489T>A (p.Phe1163Leu)
c.3414T>A (p.Phe1138Leu)
c.3393T>A (p.Phe1131Leu)
c.3291T>A (p.Phe1097Leu)
c.2352T>A (p.Phe784Leu)
n.3438+164T>A
n.3465T>A
n.3356T>A
n.3219T>A
n.3021T>A
 ClinVar gnomAD v4
8g.144511982dupCA2689129167RECQL4c.3324dup (p.Glu1109Ter)
c.341dup
n.50-191dup
c.570dup (p.Glu191Ter)
c.2253dup (p.Glu752Ter)
c.3399dup (p.Glu1134Ter)
c.3303dup (p.Glu1102Ter)
c.3207dup (p.Glu1070Ter)
c.3201dup (p.Glu1068Ter)
c.3126dup (p.Glu1043Ter)
c.2262dup (p.Glu755Ter)
n.3352+164dup
n.3379dup
n.3272dup
c.3489dup (p.Glu1164Ter)
c.3414dup (p.Glu1139Ter)
c.3393dup (p.Glu1132Ter)
c.3291dup (p.Glu1098Ter)
c.2352dup (p.Glu785Ter)
n.3438+164dup
n.3465dup
n.3356dup
n.3219dup
n.3021dup
 gnomAD v4
8g.144511981A=CA1826365510RECQL4c.3323T= (p.Phe1108=)
c.340T=
n.50-192T=
c.569T= (p.Phe190=)
c.2252T= (p.Phe751=)
c.3398T= (p.Phe1133=)
c.3302T= (p.Phe1101=)
c.3206T= (p.Phe1069=)
c.3200T= (p.Phe1067=)
c.3125T= (p.Phe1042=)
c.2261T= (p.Phe754=)
n.3352+163T=
n.3378T=
n.3271T=
c.3488T= (p.Phe1163=)
c.3413T= (p.Phe1138=)
c.3392T= (p.Phe1131=)
c.3290T= (p.Phe1097=)
c.2351T= (p.Phe784=)
n.3438+163T=
n.3464T=
n.3355T=
n.3218T=
n.3020T=
8g.144511981A>CCA372668648RECQL4c.3323T>G (p.Phe1108Cys)
c.340T>G
n.50-192T>G
c.569T>G (p.Phe190Cys)
c.2252T>G (p.Phe751Cys)
c.3398T>G (p.Phe1133Cys)
c.3302T>G (p.Phe1101Cys)
c.3206T>G (p.Phe1069Cys)
c.3200T>G (p.Phe1067Cys)
c.3125T>G (p.Phe1042Cys)
c.2261T>G (p.Phe754Cys)
n.3352+163T>G
n.3378T>G
n.3271T>G
c.3488T>G (p.Phe1163Cys)
c.3413T>G (p.Phe1138Cys)
c.3392T>G (p.Phe1131Cys)
c.3290T>G (p.Phe1097Cys)
c.2351T>G (p.Phe784Cys)
n.3438+163T>G
n.3464T>G
n.3355T>G
n.3218T>G
n.3020T>G
 gnomAD v4
8g.144511981A>GCA372668643RECQL4c.3323T>C (p.Phe1108Ser)
c.340T>C
n.50-192T>C
c.569T>C (p.Phe190Ser)
c.2252T>C (p.Phe751Ser)
c.3398T>C (p.Phe1133Ser)
c.3302T>C (p.Phe1101Ser)
c.3206T>C (p.Phe1069Ser)
c.3200T>C (p.Phe1067Ser)
c.3125T>C (p.Phe1042Ser)
c.2261T>C (p.Phe754Ser)
n.3352+163T>C
n.3378T>C
n.3271T>C
c.3488T>C (p.Phe1163Ser)
c.3413T>C (p.Phe1138Ser)
c.3392T>C (p.Phe1131Ser)
c.3290T>C (p.Phe1097Ser)
c.2351T>C (p.Phe784Ser)
n.3438+163T>C
n.3464T>C
n.3355T>C
n.3218T>C
n.3020T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511981A>TCA372668644RECQL4c.3323T>A (p.Phe1108Tyr)
c.340T>A
n.50-192T>A
c.569T>A (p.Phe190Tyr)
c.2252T>A (p.Phe751Tyr)
c.3398T>A (p.Phe1133Tyr)
c.3302T>A (p.Phe1101Tyr)
c.3206T>A (p.Phe1069Tyr)
c.3200T>A (p.Phe1067Tyr)
c.3125T>A (p.Phe1042Tyr)
c.2261T>A (p.Phe754Tyr)
n.3352+163T>A
n.3378T>A
n.3271T>A
c.3488T>A (p.Phe1163Tyr)
c.3413T>A (p.Phe1138Tyr)
c.3392T>A (p.Phe1131Tyr)
c.3290T>A (p.Phe1097Tyr)
c.2351T>A (p.Phe784Tyr)
n.3438+163T>A
n.3464T>A
n.3355T>A
n.3218T>A
n.3020T>A
8g.144511982A>CCA372668651RECQL4c.3322T>G (p.Phe1108Val)
c.339T>G
n.50-193T>G
c.568T>G (p.Phe190Val)
c.2251T>G (p.Phe751Val)
c.3397T>G (p.Phe1133Val)
c.3301T>G (p.Phe1101Val)
c.3205T>G (p.Phe1069Val)
c.3199T>G (p.Phe1067Val)
c.3124T>G (p.Phe1042Val)
c.2260T>G (p.Phe754Val)
n.3352+162T>G
n.3377T>G
n.3270T>G
c.3487T>G (p.Phe1163Val)
c.3412T>G (p.Phe1138Val)
c.3391T>G (p.Phe1131Val)
c.3289T>G (p.Phe1097Val)
c.2350T>G (p.Phe784Val)
n.3438+162T>G
n.3463T>G
n.3354T>G
n.3217T>G
n.3019T>G
8g.144511982A>GCA372668660RECQL4c.3322T>C (p.Phe1108Leu)
c.339T>C
n.50-193T>C
c.568T>C (p.Phe190Leu)
c.2251T>C (p.Phe751Leu)
c.3397T>C (p.Phe1133Leu)
c.3301T>C (p.Phe1101Leu)
c.3205T>C (p.Phe1069Leu)
c.3199T>C (p.Phe1067Leu)
c.3124T>C (p.Phe1042Leu)
c.2260T>C (p.Phe754Leu)
n.3352+162T>C
n.3377T>C
n.3270T>C
c.3487T>C (p.Phe1163Leu)
c.3412T>C (p.Phe1138Leu)
c.3391T>C (p.Phe1131Leu)
c.3289T>C (p.Phe1097Leu)
c.2350T>C (p.Phe784Leu)
n.3438+162T>C
n.3463T>C
n.3354T>C
n.3217T>C
n.3019T>C
 gnomAD v4
8g.144511982A>TCA372668665RECQL4c.3322T>A (p.Phe1108Ile)
c.339T>A
n.50-193T>A
c.568T>A (p.Phe190Ile)
c.2251T>A (p.Phe751Ile)
c.3397T>A (p.Phe1133Ile)
c.3301T>A (p.Phe1101Ile)
c.3205T>A (p.Phe1069Ile)
c.3199T>A (p.Phe1067Ile)
c.3124T>A (p.Phe1042Ile)
c.2260T>A (p.Phe754Ile)
n.3352+162T>A
n.3377T>A
n.3270T>A
c.3487T>A (p.Phe1163Ile)
c.3412T>A (p.Phe1138Ile)
c.3391T>A (p.Phe1131Ile)
c.3289T>A (p.Phe1097Ile)
c.2350T>A (p.Phe784Ile)
n.3438+162T>A
n.3463T>A
n.3354T>A
n.3217T>A
n.3019T>A
 dbSNP
8g.144511983G>ACA463565868RECQL4c.3321C>T (p.Tyr1107=)
c.338C>T
n.50-194C>T
c.567C>T (p.Tyr189=)
c.2250C>T (p.Tyr750=)
c.3396C>T (p.Tyr1132=)
c.3300C>T (p.Tyr1100=)
c.3204C>T (p.Tyr1068=)
c.3198C>T (p.Tyr1066=)
c.3123C>T (p.Tyr1041=)
c.2259C>T (p.Tyr753=)
n.3352+161C>T
n.3376C>T
n.3269C>T
c.3486C>T (p.Tyr1162=)
c.3411C>T (p.Tyr1137=)
c.3390C>T (p.Tyr1130=)
c.3288C>T (p.Tyr1096=)
c.2349C>T (p.Tyr783=)
n.3438+161C>T
n.3462C>T
n.3353C>T
n.3216C>T
n.3018C>T
 ClinVar
8g.144511983G>CCA4947816RECQL4c.3321C>G (p.Tyr1107Ter)
c.338C>G
n.50-194C>G
c.567C>G (p.Tyr189Ter)
c.2250C>G (p.Tyr750Ter)
c.3396C>G (p.Tyr1132Ter)
c.3300C>G (p.Tyr1100Ter)
c.3204C>G (p.Tyr1068Ter)
c.3198C>G (p.Tyr1066Ter)
c.3123C>G (p.Tyr1041Ter)
c.2259C>G (p.Tyr753Ter)
n.3352+161C>G
n.3376C>G
n.3269C>G
c.3486C>G (p.Tyr1162Ter)
c.3411C>G (p.Tyr1137Ter)
c.3390C>G (p.Tyr1130Ter)
c.3288C>G (p.Tyr1096Ter)
c.2349C>G (p.Tyr783Ter)
n.3438+161C>G
n.3462C>G
n.3353C>G
n.3216C>G
n.3018C>G
 ClinVar dbSNP ExAC gnomAD v2
8g.144511983G=CA1826365511RECQL4c.3321C= (p.Tyr1107=)
c.338C=
n.50-194C=
c.567C= (p.Tyr189=)
c.2250C= (p.Tyr750=)
c.3396C= (p.Tyr1132=)
c.3300C= (p.Tyr1100=)
c.3204C= (p.Tyr1068=)
c.3198C= (p.Tyr1066=)
c.3123C= (p.Tyr1041=)
c.2259C= (p.Tyr753=)
n.3352+161C=
n.3376C=
n.3269C=
c.3486C= (p.Tyr1162=)
c.3411C= (p.Tyr1137=)
c.3390C= (p.Tyr1130=)
c.3288C= (p.Tyr1096=)
c.2349C= (p.Tyr783=)
n.3438+161C=
n.3462C=
n.3353C=
n.3216C=
n.3018C=
8g.144511983G>TCA372668676RECQL4c.3321C>A (p.Tyr1107Ter)
c.338C>A
n.50-194C>A
c.567C>A (p.Tyr189Ter)
c.2250C>A (p.Tyr750Ter)
c.3396C>A (p.Tyr1132Ter)
c.3300C>A (p.Tyr1100Ter)
c.3204C>A (p.Tyr1068Ter)
c.3198C>A (p.Tyr1066Ter)
c.3123C>A (p.Tyr1041Ter)
c.2259C>A (p.Tyr753Ter)
n.3352+161C>A
n.3376C>A
n.3269C>A
c.3486C>A (p.Tyr1162Ter)
c.3411C>A (p.Tyr1137Ter)
c.3390C>A (p.Tyr1130Ter)
c.3288C>A (p.Tyr1096Ter)
c.2349C>A (p.Tyr783Ter)
n.3438+161C>A
n.3462C>A
n.3353C>A
n.3216C>A
n.3018C>A
8g.144511984T>ACA372668687RECQL4c.3320A>T (p.Tyr1107Phe)
c.337A>T
n.50-195A>T
c.566A>T (p.Tyr189Phe)
c.2249A>T (p.Tyr750Phe)
c.3395A>T (p.Tyr1132Phe)
c.3299A>T (p.Tyr1100Phe)
c.3203A>T (p.Tyr1068Phe)
c.3197A>T (p.Tyr1066Phe)
c.3122A>T (p.Tyr1041Phe)
c.2258A>T (p.Tyr753Phe)
n.3352+160A>T
n.3375A>T
n.3268A>T
c.3485A>T (p.Tyr1162Phe)
c.3410A>T (p.Tyr1137Phe)
c.3389A>T (p.Tyr1130Phe)
c.3287A>T (p.Tyr1096Phe)
c.2348A>T (p.Tyr783Phe)
n.3438+160A>T
n.3461A>T
n.3352A>T
n.3215A>T
n.3017A>T
 dbSNP
8g.144511984T>CCA372668705RECQL4c.3320A>G (p.Tyr1107Cys)
c.337A>G
n.50-195A>G
c.566A>G (p.Tyr189Cys)
c.2249A>G (p.Tyr750Cys)
c.3395A>G (p.Tyr1132Cys)
c.3299A>G (p.Tyr1100Cys)
c.3203A>G (p.Tyr1068Cys)
c.3197A>G (p.Tyr1066Cys)
c.3122A>G (p.Tyr1041Cys)
c.2258A>G (p.Tyr753Cys)
n.3352+160A>G
n.3375A>G
n.3268A>G
c.3485A>G (p.Tyr1162Cys)
c.3410A>G (p.Tyr1137Cys)
c.3389A>G (p.Tyr1130Cys)
c.3287A>G (p.Tyr1096Cys)
c.2348A>G (p.Tyr783Cys)
n.3438+160A>G
n.3461A>G
n.3352A>G
n.3215A>G
n.3017A>G
 ClinVar dbSNP
8g.144511984T>GCA372668701RECQL4c.3320A>C (p.Tyr1107Ser)
c.337A>C
n.50-195A>C
c.566A>C (p.Tyr189Ser)
c.2249A>C (p.Tyr750Ser)
c.3395A>C (p.Tyr1132Ser)
c.3299A>C (p.Tyr1100Ser)
c.3203A>C (p.Tyr1068Ser)
c.3197A>C (p.Tyr1066Ser)
c.3122A>C (p.Tyr1041Ser)
c.2258A>C (p.Tyr753Ser)
n.3352+160A>C
n.3375A>C
n.3268A>C
c.3485A>C (p.Tyr1162Ser)
c.3410A>C (p.Tyr1137Ser)
c.3389A>C (p.Tyr1130Ser)
c.3287A>C (p.Tyr1096Ser)
c.2348A>C (p.Tyr783Ser)
n.3438+160A>C
n.3461A>C
n.3352A>C
n.3215A>C
n.3017A>C
8g.144511984T=CA1826365513RECQL4c.3320A= (p.Tyr1107=)
c.337A=
n.50-195A=
c.566A= (p.Tyr189=)
c.2249A= (p.Tyr750=)
c.3395A= (p.Tyr1132=)
c.3299A= (p.Tyr1100=)
c.3203A= (p.Tyr1068=)
c.3197A= (p.Tyr1066=)
c.3122A= (p.Tyr1041=)
c.2258A= (p.Tyr753=)
n.3352+160A=
n.3375A=
n.3268A=
c.3485A= (p.Tyr1162=)
c.3410A= (p.Tyr1137=)
c.3389A= (p.Tyr1130=)
c.3287A= (p.Tyr1096=)
c.2348A= (p.Tyr783=)
n.3438+160A=
n.3461A=
n.3352A=
n.3215A=
n.3017A=
8g.144511984_144511992delinsTAGCGGCCGCA1826365512RECQL4c.3312_3320delinsCGGCCGCTA (p.Leu1104=)
c.329_337delinsCGGCCGCTA
n.50-203_50-195delinsCGGCCGCTA
c.558_566delinsCGGCCGCTA (p.Leu186=)
c.2241_2249delinsCGGCCGCTA (p.Leu747=)
c.3387_3395delinsCGGCCGCTA (p.Leu1129=)
c.3291_3299delinsCGGCCGCTA (p.Leu1097=)
c.3195_3203delinsCGGCCGCTA (p.Leu1065=)
c.3189_3197delinsCGGCCGCTA (p.Leu1063=)
c.3114_3122delinsCGGCCGCTA (p.Leu1038=)
c.2250_2258delinsCGGCCGCTA (p.Leu750=)
n.3352+152_3352+160delinsCGGCCGCTA
n.3367_3375delinsCGGCCGCTA
n.3260_3268delinsCGGCCGCTA
c.3477_3485delinsCGGCCGCTA (p.Leu1159=)
c.3402_3410delinsCGGCCGCTA (p.Leu1134=)
c.3381_3389delinsCGGCCGCTA (p.Leu1127=)
c.3279_3287delinsCGGCCGCTA (p.Leu1093=)
c.2340_2348delinsCGGCCGCTA (p.Leu780=)
n.3438+152_3438+160delinsCGGCCGCTA
n.3453_3461delinsCGGCCGCTA
n.3344_3352delinsCGGCCGCTA
n.3207_3215delinsCGGCCGCTA
n.3009_3017delinsCGGCCGCTA
8g.144511985A=CA1826365514RECQL4c.3319T= (p.Tyr1107=)
c.336T=
n.50-196T=
c.565T= (p.Tyr189=)
c.2248T= (p.Tyr750=)
c.3394T= (p.Tyr1132=)
c.3298T= (p.Tyr1100=)
c.3202T= (p.Tyr1068=)
c.3196T= (p.Tyr1066=)
c.3121T= (p.Tyr1041=)
c.2257T= (p.Tyr753=)
n.3352+159T=
n.3374T=
n.3267T=
c.3484T= (p.Tyr1162=)
c.3409T= (p.Tyr1137=)
c.3388T= (p.Tyr1130=)
c.3286T= (p.Tyr1096=)
c.2347T= (p.Tyr783=)
n.3438+159T=
n.3460T=
n.3351T=
n.3214T=
n.3016T=
8g.144511985A>CCA372668711RECQL4c.3319T>G (p.Tyr1107Asp)
c.336T>G
n.50-196T>G
c.565T>G (p.Tyr189Asp)
c.2248T>G (p.Tyr750Asp)
c.3394T>G (p.Tyr1132Asp)
c.3298T>G (p.Tyr1100Asp)
c.3202T>G (p.Tyr1068Asp)
c.3196T>G (p.Tyr1066Asp)
c.3121T>G (p.Tyr1041Asp)
c.2257T>G (p.Tyr753Asp)
n.3352+159T>G
n.3374T>G
n.3267T>G
c.3484T>G (p.Tyr1162Asp)
c.3409T>G (p.Tyr1137Asp)
c.3388T>G (p.Tyr1130Asp)
c.3286T>G (p.Tyr1096Asp)
c.2347T>G (p.Tyr783Asp)
n.3438+159T>G
n.3460T>G
n.3351T>G
n.3214T>G
n.3016T>G
8g.144511985A>GCA4947817RECQL4c.3319T>C (p.Tyr1107His)
c.336T>C
n.50-196T>C
c.565T>C (p.Tyr189His)
c.2248T>C (p.Tyr750His)
c.3394T>C (p.Tyr1132His)
c.3298T>C (p.Tyr1100His)
c.3202T>C (p.Tyr1068His)
c.3196T>C (p.Tyr1066His)
c.3121T>C (p.Tyr1041His)
c.2257T>C (p.Tyr753His)
n.3352+159T>C
n.3374T>C
n.3267T>C
c.3484T>C (p.Tyr1162His)
c.3409T>C (p.Tyr1137His)
c.3388T>C (p.Tyr1130His)
c.3286T>C (p.Tyr1096His)
c.2347T>C (p.Tyr783His)
n.3438+159T>C
n.3460T>C
n.3351T>C
n.3214T>C
n.3016T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511985A>TCA372668721RECQL4c.3319T>A (p.Tyr1107Asn)
c.336T>A
n.50-196T>A
c.565T>A (p.Tyr189Asn)
c.2248T>A (p.Tyr750Asn)
c.3394T>A (p.Tyr1132Asn)
c.3298T>A (p.Tyr1100Asn)
c.3202T>A (p.Tyr1068Asn)
c.3196T>A (p.Tyr1066Asn)
c.3121T>A (p.Tyr1041Asn)
c.2257T>A (p.Tyr753Asn)
n.3352+159T>A
n.3374T>A
n.3267T>A
c.3484T>A (p.Tyr1162Asn)
c.3409T>A (p.Tyr1137Asn)
c.3388T>A (p.Tyr1130Asn)
c.3286T>A (p.Tyr1096Asn)
c.2347T>A (p.Tyr783Asn)
n.3438+159T>A
n.3460T>A
n.3351T>A
n.3214T>A
n.3016T>A
 dbSNP
8g.144511988_144511995delCA1139660819RECQL4c.3312_3319del (p.Gly1105LeufsTer2)
c.329_336del
n.50-203_50-196del
c.558_565del (p.Gly187LeufsTer2)
c.2241_2248del (p.Gly748LeufsTer2)
c.3387_3394del (p.Gly1130LeufsTer2)
c.3291_3298del (p.Gly1098LeufsTer2)
c.3195_3202del (p.Gly1066LeufsTer2)
c.3189_3196del (p.Gly1064LeufsTer2)
c.3114_3121del (p.Gly1039LeufsTer2)
c.2250_2257del (p.Gly751LeufsTer2)
n.3352+152_3352+159del
n.3367_3374del
n.3260_3267del
c.3477_3484del (p.Gly1160LeufsTer2)
c.3402_3409del (p.Gly1135LeufsTer2)
c.3381_3388del (p.Gly1128LeufsTer2)
c.3279_3286del (p.Gly1094LeufsTer2)
c.2340_2347del (p.Gly781LeufsTer2)
n.3438+152_3438+159del
n.3453_3460del
n.3344_3351del
n.3207_3214del
n.3009_3016del
 ClinVar dbSNP
8g.144511986delCA2689129181RECQL4c.3318del (p.Tyr1107ThrfsTer?)
c.335del
n.50-197del
c.564del (p.Tyr189ThrfsTer26)
c.2247del (p.Tyr750ThrfsTer?)
c.3393del (p.Tyr1132ThrfsTer?)
c.3297del (p.Tyr1100ThrfsTer?)
c.3201del (p.Tyr1068ThrfsTer?)
c.3195del (p.Tyr1066ThrfsTer?)
c.3120del (p.Tyr1041ThrfsTer?)
c.2256del (p.Tyr753ThrfsTer?)
n.3352+158del
n.3373del
n.3266del
c.3483del (p.Tyr1162ThrfsTer26)
c.3408del (p.Tyr1137ThrfsTer26)
c.3393del (p.Tyr1132ThrfsTer26)
c.3387del (p.Tyr1130ThrfsTer26)
c.3318del (p.Tyr1107ThrfsTer26)
c.3483del (p.Tyr1162ThrfsTer?)
c.3285del (p.Tyr1096ThrfsTer26)
c.3408del (p.Tyr1137ThrfsTer?)
c.3195del (p.Tyr1066ThrfsTer26)
c.2346del (p.Tyr783ThrfsTer26)
c.2256del (p.Tyr753ThrfsTer26)
n.3438+158del
n.3459del
n.3350del
n.3213del
n.3015del
 gnomAD v4
8g.144511986G>ACA463565869RECQL4c.3318C>T (p.Arg1106=)
c.335C>T
n.50-197C>T
c.564C>T (p.Arg188=)
c.2247C>T (p.Arg749=)
c.3393C>T (p.Arg1131=)
c.3297C>T (p.Arg1099=)
c.3201C>T (p.Arg1067=)
c.3195C>T (p.Arg1065=)
c.3120C>T (p.Arg1040=)
c.2256C>T (p.Arg752=)
n.3352+158C>T
n.3373C>T
n.3266C>T
c.3483C>T (p.Arg1161=)
c.3408C>T (p.Arg1136=)
c.3387C>T (p.Arg1129=)
c.3285C>T (p.Arg1095=)
c.2346C>T (p.Arg782=)
n.3438+158C>T
n.3459C>T
n.3350C>T
n.3213C>T
n.3015C>T
8g.144511986G>CCA463565870RECQL4c.3318C>G (p.Arg1106=)
c.335C>G
n.50-197C>G
c.564C>G (p.Arg188=)
c.2247C>G (p.Arg749=)
c.3393C>G (p.Arg1131=)
c.3297C>G (p.Arg1099=)
c.3201C>G (p.Arg1067=)
c.3195C>G (p.Arg1065=)
c.3120C>G (p.Arg1040=)
c.2256C>G (p.Arg752=)
n.3352+158C>G
n.3373C>G
n.3266C>G
c.3483C>G (p.Arg1161=)
c.3408C>G (p.Arg1136=)
c.3387C>G (p.Arg1129=)
c.3285C>G (p.Arg1095=)
c.2346C>G (p.Arg782=)
n.3438+158C>G
n.3459C>G
n.3350C>G
n.3213C>G
n.3015C>G
 ClinVar dbSNP gnomAD v4
8g.144511986G=CA1826365515RECQL4c.3318C= (p.Arg1106=)
c.335C=
n.50-197C=
c.564C= (p.Arg188=)
c.2247C= (p.Arg749=)
c.3393C= (p.Arg1131=)
c.3297C= (p.Arg1099=)
c.3201C= (p.Arg1067=)
c.3195C= (p.Arg1065=)
c.3120C= (p.Arg1040=)
c.2256C= (p.Arg752=)
n.3352+158C=
n.3373C=
n.3266C=
c.3483C= (p.Arg1161=)
c.3408C= (p.Arg1136=)
c.3387C= (p.Arg1129=)
c.3285C= (p.Arg1095=)
c.2346C= (p.Arg782=)
n.3438+158C=
n.3459C=
n.3350C=
n.3213C=
n.3015C=
8g.144511986G>TCA4947818RECQL4c.3318C>A (p.Arg1106=)
c.335C>A
n.50-197C>A
c.564C>A (p.Arg188=)
c.2247C>A (p.Arg749=)
c.3393C>A (p.Arg1131=)
c.3297C>A (p.Arg1099=)
c.3201C>A (p.Arg1067=)
c.3195C>A (p.Arg1065=)
c.3120C>A (p.Arg1040=)
c.2256C>A (p.Arg752=)
n.3352+158C>A
n.3373C>A
n.3266C>A
c.3483C>A (p.Arg1161=)
c.3408C>A (p.Arg1136=)
c.3387C>A (p.Arg1129=)
c.3285C>A (p.Arg1095=)
c.2346C>A (p.Arg782=)
n.3438+158C>A
n.3459C>A
n.3350C>A
n.3213C>A
n.3015C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144511987C>ACA372668738RECQL4c.3317G>T (p.Arg1106Leu)
c.334G>T
n.50-198G>T
c.563G>T (p.Arg188Leu)
c.2246G>T (p.Arg749Leu)
c.3392G>T (p.Arg1131Leu)
c.3296G>T (p.Arg1099Leu)
c.3200G>T (p.Arg1067Leu)
c.3194G>T (p.Arg1065Leu)
c.3119G>T (p.Arg1040Leu)
c.2255G>T (p.Arg752Leu)
n.3352+157G>T
n.3372G>T
n.3265G>T
c.3482G>T (p.Arg1161Leu)
c.3407G>T (p.Arg1136Leu)
c.3386G>T (p.Arg1129Leu)
c.3284G>T (p.Arg1095Leu)
c.2345G>T (p.Arg782Leu)
n.3438+157G>T
n.3458G>T
n.3349G>T
n.3212G>T
n.3014G>T
 dbSNP
8g.144511987C=CA1826365516RECQL4c.3317G= (p.Arg1106=)
c.334G=
n.50-198G=
c.563G= (p.Arg188=)
c.2246G= (p.Arg749=)
c.3392G= (p.Arg1131=)
c.3296G= (p.Arg1099=)
c.3200G= (p.Arg1067=)
c.3194G= (p.Arg1065=)
c.3119G= (p.Arg1040=)
c.2255G= (p.Arg752=)
n.3352+157G=
n.3372G=
n.3265G=
c.3482G= (p.Arg1161=)
c.3407G= (p.Arg1136=)
c.3386G= (p.Arg1129=)
c.3284G= (p.Arg1095=)
c.2345G= (p.Arg782=)
n.3438+157G=
n.3458G=
n.3349G=
n.3212G=
n.3014G=
8g.144511987C>GCA372668740RECQL4c.3317G>C (p.Arg1106Pro)
c.334G>C
n.50-198G>C
c.563G>C (p.Arg188Pro)
c.2246G>C (p.Arg749Pro)
c.3392G>C (p.Arg1131Pro)
c.3296G>C (p.Arg1099Pro)
c.3200G>C (p.Arg1067Pro)
c.3194G>C (p.Arg1065Pro)
c.3119G>C (p.Arg1040Pro)
c.2255G>C (p.Arg752Pro)
n.3352+157G>C
n.3372G>C
n.3265G>C
c.3482G>C (p.Arg1161Pro)
c.3407G>C (p.Arg1136Pro)
c.3386G>C (p.Arg1129Pro)
c.3284G>C (p.Arg1095Pro)
c.2345G>C (p.Arg782Pro)
n.3438+157G>C
n.3458G>C
n.3349G>C
n.3212G>C
n.3014G>C
 dbSNP
8g.144511987C>TCA4947819RECQL4c.3317G>A (p.Arg1106His)
c.334G>A
n.50-198G>A
c.563G>A (p.Arg188His)
c.2246G>A (p.Arg749His)
c.3392G>A (p.Arg1131His)
c.3296G>A (p.Arg1099His)
c.3200G>A (p.Arg1067His)
c.3194G>A (p.Arg1065His)
c.3119G>A (p.Arg1040His)
c.2255G>A (p.Arg752His)
n.3352+157G>A
n.3372G>A
n.3265G>A
c.3482G>A (p.Arg1161His)
c.3407G>A (p.Arg1136His)
c.3386G>A (p.Arg1129His)
c.3284G>A (p.Arg1095His)
c.2345G>A (p.Arg782His)
n.3438+157G>A
n.3458G>A
n.3349G>A
n.3212G>A
n.3014G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511988G>ACA4947820RECQL4c.3316C>T (p.Arg1106Cys)
c.333C>T
n.50-199C>T
c.562C>T (p.Arg188Cys)
c.2245C>T (p.Arg749Cys)
c.3391C>T (p.Arg1131Cys)
c.3295C>T (p.Arg1099Cys)
c.3199C>T (p.Arg1067Cys)
c.3193C>T (p.Arg1065Cys)
c.3118C>T (p.Arg1040Cys)
c.2254C>T (p.Arg752Cys)
n.3352+156C>T
n.3371C>T
n.3264C>T
c.3481C>T (p.Arg1161Cys)
c.3406C>T (p.Arg1136Cys)
c.3385C>T (p.Arg1129Cys)
c.3283C>T (p.Arg1095Cys)
c.2344C>T (p.Arg782Cys)
n.3438+156C>T
n.3457C>T
n.3348C>T
n.3211C>T
n.3013C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.144511988G>CCA372668753RECQL4c.3316C>G (p.Arg1106Gly)
c.333C>G
n.50-199C>G
c.562C>G (p.Arg188Gly)
c.2245C>G (p.Arg749Gly)
c.3391C>G (p.Arg1131Gly)
c.3295C>G (p.Arg1099Gly)
c.3199C>G (p.Arg1067Gly)
c.3193C>G (p.Arg1065Gly)
c.3118C>G (p.Arg1040Gly)
c.2254C>G (p.Arg752Gly)
n.3352+156C>G
n.3371C>G
n.3264C>G
c.3481C>G (p.Arg1161Gly)
c.3406C>G (p.Arg1136Gly)
c.3385C>G (p.Arg1129Gly)
c.3283C>G (p.Arg1095Gly)
c.2344C>G (p.Arg782Gly)
n.3438+156C>G
n.3457C>G
n.3348C>G
n.3211C>G
n.3013C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511988G=CA1826365517RECQL4c.3316C= (p.Arg1106=)
c.333C=
n.50-199C=
c.562C= (p.Arg188=)
c.2245C= (p.Arg749=)
c.3391C= (p.Arg1131=)
c.3295C= (p.Arg1099=)
c.3199C= (p.Arg1067=)
c.3193C= (p.Arg1065=)
c.3118C= (p.Arg1040=)
c.2254C= (p.Arg752=)
n.3352+156C=
n.3371C=
n.3264C=
c.3481C= (p.Arg1161=)
c.3406C= (p.Arg1136=)
c.3385C= (p.Arg1129=)
c.3283C= (p.Arg1095=)
c.2344C= (p.Arg782=)
n.3438+156C=
n.3457C=
n.3348C=
n.3211C=
n.3013C=
8g.144511988G>TCA372668760RECQL4c.3316C>A (p.Arg1106Ser)
c.333C>A
n.50-199C>A
c.562C>A (p.Arg188Ser)
c.2245C>A (p.Arg749Ser)
c.3391C>A (p.Arg1131Ser)
c.3295C>A (p.Arg1099Ser)
c.3199C>A (p.Arg1067Ser)
c.3193C>A (p.Arg1065Ser)
c.3118C>A (p.Arg1040Ser)
c.2254C>A (p.Arg752Ser)
n.3352+156C>A
n.3371C>A
n.3264C>A
c.3481C>A (p.Arg1161Ser)
c.3406C>A (p.Arg1136Ser)
c.3385C>A (p.Arg1129Ser)
c.3283C>A (p.Arg1095Ser)
c.2344C>A (p.Arg782Ser)
n.3438+156C>A
n.3457C>A
n.3348C>A
n.3211C>A
n.3013C>A
 dbSNP gnomAD v3 gnomAD v4
8g.144511989G>ACA463565874RECQL4c.3315C>T (p.Gly1105=)
c.332C>T
n.50-200C>T
c.561C>T (p.Gly187=)
c.2244C>T (p.Gly748=)
c.3390C>T (p.Gly1130=)
c.3294C>T (p.Gly1098=)
c.3198C>T (p.Gly1066=)
c.3192C>T (p.Gly1064=)
c.3117C>T (p.Gly1039=)
c.2253C>T (p.Gly751=)
n.3352+155C>T
n.3370C>T
n.3263C>T
c.3480C>T (p.Gly1160=)
c.3405C>T (p.Gly1135=)
c.3384C>T (p.Gly1128=)
c.3282C>T (p.Gly1094=)
c.2343C>T (p.Gly781=)
n.3438+155C>T
n.3456C>T
n.3347C>T
n.3210C>T
n.3012C>T
 dbSNP
8g.144511989G>CCA463565873RECQL4c.3315C>G (p.Gly1105=)
c.332C>G
n.50-200C>G
c.561C>G (p.Gly187=)
c.2244C>G (p.Gly748=)
c.3390C>G (p.Gly1130=)
c.3294C>G (p.Gly1098=)
c.3198C>G (p.Gly1066=)
c.3192C>G (p.Gly1064=)
c.3117C>G (p.Gly1039=)
c.2253C>G (p.Gly751=)
n.3352+155C>G
n.3370C>G
n.3263C>G
c.3480C>G (p.Gly1160=)
c.3405C>G (p.Gly1135=)
c.3384C>G (p.Gly1128=)
c.3282C>G (p.Gly1094=)
c.2343C>G (p.Gly781=)
n.3438+155C>G
n.3456C>G
n.3347C>G
n.3210C>G
n.3012C>G
8g.144511989G=CA1826365518RECQL4c.3315C= (p.Gly1105=)
c.332C=
n.50-200C=
c.561C= (p.Gly187=)
c.2244C= (p.Gly748=)
c.3390C= (p.Gly1130=)
c.3294C= (p.Gly1098=)
c.3198C= (p.Gly1066=)
c.3192C= (p.Gly1064=)
c.3117C= (p.Gly1039=)
c.2253C= (p.Gly751=)
n.3352+155C=
n.3370C=
n.3263C=
c.3480C= (p.Gly1160=)
c.3405C= (p.Gly1135=)
c.3384C= (p.Gly1128=)
c.3282C= (p.Gly1094=)
c.2343C= (p.Gly781=)
n.3438+155C=
n.3456C=
n.3347C=
n.3210C=
n.3012C=
8g.144511989G>TCA4947821RECQL4c.3315C>A (p.Gly1105=)
c.332C>A
n.50-200C>A
c.561C>A (p.Gly187=)
c.2244C>A (p.Gly748=)
c.3390C>A (p.Gly1130=)
c.3294C>A (p.Gly1098=)
c.3198C>A (p.Gly1066=)
c.3192C>A (p.Gly1064=)
c.3117C>A (p.Gly1039=)
c.2253C>A (p.Gly751=)
n.3352+155C>A
n.3370C>A
n.3263C>A
c.3480C>A (p.Gly1160=)
c.3405C>A (p.Gly1135=)
c.3384C>A (p.Gly1128=)
c.3282C>A (p.Gly1094=)
c.2343C>A (p.Gly781=)
n.3438+155C>A
n.3456C>A
n.3347C>A
n.3210C>A
n.3012C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511990C>ACA372668765RECQL4c.3314G>T (p.Gly1105Val)
c.331G>T
n.50-201G>T
c.560G>T (p.Gly187Val)
c.2243G>T (p.Gly748Val)
c.3389G>T (p.Gly1130Val)
c.3293G>T (p.Gly1098Val)
c.3197G>T (p.Gly1066Val)
c.3191G>T (p.Gly1064Val)
c.3116G>T (p.Gly1039Val)
c.2252G>T (p.Gly751Val)
n.3352+154G>T
n.3369G>T
n.3262G>T
c.3479G>T (p.Gly1160Val)
c.3404G>T (p.Gly1135Val)
c.3383G>T (p.Gly1128Val)
c.3281G>T (p.Gly1094Val)
c.2342G>T (p.Gly781Val)
n.3438+154G>T
n.3455G>T
n.3346G>T
n.3209G>T
n.3011G>T
8g.144511990C=CA1826365519RECQL4c.3314G= (p.Gly1105=)
c.331G=
n.50-201G=
c.560G= (p.Gly187=)
c.2243G= (p.Gly748=)
c.3389G= (p.Gly1130=)
c.3293G= (p.Gly1098=)
c.3197G= (p.Gly1066=)
c.3191G= (p.Gly1064=)
c.3116G= (p.Gly1039=)
c.2252G= (p.Gly751=)
n.3352+154G=
n.3369G=
n.3262G=
c.3479G= (p.Gly1160=)
c.3404G= (p.Gly1135=)
c.3383G= (p.Gly1128=)
c.3281G= (p.Gly1094=)
c.2342G= (p.Gly781=)
n.3438+154G=
n.3455G=
n.3346G=
n.3209G=
n.3011G=
8g.144511990C>GCA372668764RECQL4c.3314G>C (p.Gly1105Ala)
c.331G>C
n.50-201G>C
c.560G>C (p.Gly187Ala)
c.2243G>C (p.Gly748Ala)
c.3389G>C (p.Gly1130Ala)
c.3293G>C (p.Gly1098Ala)
c.3197G>C (p.Gly1066Ala)
c.3191G>C (p.Gly1064Ala)
c.3116G>C (p.Gly1039Ala)
c.2252G>C (p.Gly751Ala)
n.3352+154G>C
n.3369G>C
n.3262G>C
c.3479G>C (p.Gly1160Ala)
c.3404G>C (p.Gly1135Ala)
c.3383G>C (p.Gly1128Ala)
c.3281G>C (p.Gly1094Ala)
c.2342G>C (p.Gly781Ala)
n.3438+154G>C
n.3455G>C
n.3346G>C
n.3209G>C
n.3011G>C
 dbSNP
8g.144511990C>TCA161859RECQL4c.3314G>A (p.Gly1105Asp)
c.331G>A
n.50-201G>A
c.560G>A (p.Gly187Asp)
c.2243G>A (p.Gly748Asp)
c.3389G>A (p.Gly1130Asp)
c.3293G>A (p.Gly1098Asp)
c.3197G>A (p.Gly1066Asp)
c.3191G>A (p.Gly1064Asp)
c.3116G>A (p.Gly1039Asp)
c.2252G>A (p.Gly751Asp)
n.3352+154G>A
n.3369G>A
n.3262G>A
c.3479G>A (p.Gly1160Asp)
c.3404G>A (p.Gly1135Asp)
c.3383G>A (p.Gly1128Asp)
c.3281G>A (p.Gly1094Asp)
c.2342G>A (p.Gly781Asp)
n.3438+154G>A
n.3455G>A
n.3346G>A
n.3209G>A
n.3011G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511991delCA2579282992RECQL4c.3314del (p.Gly1105AlafsTer?)
c.331del
n.50-201del
c.560del (p.Gly187AlafsTer28)
c.2243del (p.Gly748AlafsTer?)
c.3389del (p.Gly1130AlafsTer?)
c.3293del (p.Gly1098AlafsTer?)
c.3197del (p.Gly1066AlafsTer?)
c.3191del (p.Gly1064AlafsTer?)
c.3116del (p.Gly1039AlafsTer?)
c.2252del (p.Gly751AlafsTer?)
n.3352+154del
n.3369del
n.3262del
c.3479del (p.Gly1160AlafsTer28)
c.3404del (p.Gly1135AlafsTer28)
c.3389del (p.Gly1130AlafsTer28)
c.3383del (p.Gly1128AlafsTer28)
c.3314del (p.Gly1105AlafsTer28)
c.3479del (p.Gly1160AlafsTer?)
c.3281del (p.Gly1094AlafsTer28)
c.3404del (p.Gly1135AlafsTer?)
c.3191del (p.Gly1064AlafsTer28)
c.2342del (p.Gly781AlafsTer28)
c.2252del (p.Gly751AlafsTer28)
n.3438+154del
n.3455del
n.3346del
n.3209del
n.3011del
 gnomAD v4
8g.144511991C>ACA372668772RECQL4c.3313G>T (p.Gly1105Cys)
c.330G>T
n.50-202G>T
c.559G>T (p.Gly187Cys)
c.2242G>T (p.Gly748Cys)
c.3388G>T (p.Gly1130Cys)
c.3292G>T (p.Gly1098Cys)
c.3196G>T (p.Gly1066Cys)
c.3190G>T (p.Gly1064Cys)
c.3115G>T (p.Gly1039Cys)
c.2251G>T (p.Gly751Cys)
n.3352+153G>T
n.3368G>T
n.3261G>T
c.3478G>T (p.Gly1160Cys)
c.3403G>T (p.Gly1135Cys)
c.3382G>T (p.Gly1128Cys)
c.3280G>T (p.Gly1094Cys)
c.2341G>T (p.Gly781Cys)
n.3438+153G>T
n.3454G>T
n.3345G>T
n.3208G>T
n.3010G>T
8g.144511991C=CA1826365520RECQL4c.3313G= (p.Gly1105=)
c.330G=
n.50-202G=
c.559G= (p.Gly187=)
c.2242G= (p.Gly748=)
c.3388G= (p.Gly1130=)
c.3292G= (p.Gly1098=)
c.3196G= (p.Gly1066=)
c.3190G= (p.Gly1064=)
c.3115G= (p.Gly1039=)
c.2251G= (p.Gly751=)
n.3352+153G=
n.3368G=
n.3261G=
c.3478G= (p.Gly1160=)
c.3403G= (p.Gly1135=)
c.3382G= (p.Gly1128=)
c.3280G= (p.Gly1094=)
c.2341G= (p.Gly781=)
n.3438+153G=
n.3454G=
n.3345G=
n.3208G=
n.3010G=
8g.144511991C>GCA4947822RECQL4c.3313G>C (p.Gly1105Arg)
c.330G>C
n.50-202G>C
c.559G>C (p.Gly187Arg)
c.2242G>C (p.Gly748Arg)
c.3388G>C (p.Gly1130Arg)
c.3292G>C (p.Gly1098Arg)
c.3196G>C (p.Gly1066Arg)
c.3190G>C (p.Gly1064Arg)
c.3115G>C (p.Gly1039Arg)
c.2251G>C (p.Gly751Arg)
n.3352+153G>C
n.3368G>C
n.3261G>C
c.3478G>C (p.Gly1160Arg)
c.3403G>C (p.Gly1135Arg)
c.3382G>C (p.Gly1128Arg)
c.3280G>C (p.Gly1094Arg)
c.2341G>C (p.Gly781Arg)
n.3438+153G>C
n.3454G>C
n.3345G>C
n.3208G>C
n.3010G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511991C>TCA161857RECQL4c.3313G>A (p.Gly1105Ser)
c.330G>A
n.50-202G>A
c.559G>A (p.Gly187Ser)
c.2242G>A (p.Gly748Ser)
c.3388G>A (p.Gly1130Ser)
c.3292G>A (p.Gly1098Ser)
c.3196G>A (p.Gly1066Ser)
c.3190G>A (p.Gly1064Ser)
c.3115G>A (p.Gly1039Ser)
c.2251G>A (p.Gly751Ser)
n.3352+153G>A
n.3368G>A
n.3261G>A
c.3478G>A (p.Gly1160Ser)
c.3403G>A (p.Gly1135Ser)
c.3382G>A (p.Gly1128Ser)
c.3280G>A (p.Gly1094Ser)
c.2341G>A (p.Gly781Ser)
n.3438+153G>A
n.3454G>A
n.3345G>A
n.3208G>A
n.3010G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511992G>ACA187679116RECQL4c.3312C>T (p.Leu1104=)
c.329C>T
n.50-203C>T
c.558C>T (p.Leu186=)
c.2241C>T (p.Leu747=)
c.3387C>T (p.Leu1129=)
c.3291C>T (p.Leu1097=)
c.3195C>T (p.Leu1065=)
c.3189C>T (p.Leu1063=)
c.3114C>T (p.Leu1038=)
c.2250C>T (p.Leu750=)
n.3352+152C>T
n.3367C>T
n.3260C>T
c.3477C>T (p.Leu1159=)
c.3402C>T (p.Leu1134=)
c.3381C>T (p.Leu1127=)
c.3279C>T (p.Leu1093=)
c.2340C>T (p.Leu780=)
n.3438+152C>T
n.3453C>T
n.3344C>T
n.3207C>T
n.3009C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511992G>CCA463565880RECQL4c.3312C>G (p.Leu1104=)
c.329C>G
n.50-203C>G
c.558C>G (p.Leu186=)
c.2241C>G (p.Leu747=)
c.3387C>G (p.Leu1129=)
c.3291C>G (p.Leu1097=)
c.3195C>G (p.Leu1065=)
c.3189C>G (p.Leu1063=)
c.3114C>G (p.Leu1038=)
c.2250C>G (p.Leu750=)
n.3352+152C>G
n.3367C>G
n.3260C>G
c.3477C>G (p.Leu1159=)
c.3402C>G (p.Leu1134=)
c.3381C>G (p.Leu1127=)
c.3279C>G (p.Leu1093=)
c.2340C>G (p.Leu780=)
n.3438+152C>G
n.3453C>G
n.3344C>G
n.3207C>G
n.3009C>G
 ClinVar dbSNP
8g.144511992G=CA1826365521RECQL4c.3312C= (p.Leu1104=)
c.329C=
n.50-203C=
c.558C= (p.Leu186=)
c.2241C= (p.Leu747=)
c.3387C= (p.Leu1129=)
c.3291C= (p.Leu1097=)
c.3195C= (p.Leu1065=)
c.3189C= (p.Leu1063=)
c.3114C= (p.Leu1038=)
c.2250C= (p.Leu750=)
n.3352+152C=
n.3367C=
n.3260C=
c.3477C= (p.Leu1159=)
c.3402C= (p.Leu1134=)
c.3381C= (p.Leu1127=)
c.3279C= (p.Leu1093=)
c.2340C= (p.Leu780=)
n.3438+152C=
n.3453C=
n.3344C=
n.3207C=
n.3009C=
8g.144511992G>TCA463565881RECQL4c.3312C>A (p.Leu1104=)
c.329C>A
n.50-203C>A
c.558C>A (p.Leu186=)
c.2241C>A (p.Leu747=)
c.3387C>A (p.Leu1129=)
c.3291C>A (p.Leu1097=)
c.3195C>A (p.Leu1065=)
c.3189C>A (p.Leu1063=)
c.3114C>A (p.Leu1038=)
c.2250C>A (p.Leu750=)
n.3352+152C>A
n.3367C>A
n.3260C>A
c.3477C>A (p.Leu1159=)
c.3402C>A (p.Leu1134=)
c.3381C>A (p.Leu1127=)
c.3279C>A (p.Leu1093=)
c.2340C>A (p.Leu780=)
n.3438+152C>A
n.3453C>A
n.3344C>A
n.3207C>A
n.3009C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.144511992_144511994delCA2689129194RECQL4c.3310_3312del (p.Leu1104del)
c.327_329del
n.50-205_50-203del
c.556_558del (p.Leu186del)
c.2239_2241del (p.Leu747del)
c.3385_3387del (p.Leu1129del)
c.3289_3291del (p.Leu1097del)
c.3193_3195del (p.Leu1065del)
c.3187_3189del (p.Leu1063del)
c.3112_3114del (p.Leu1038del)
c.2248_2250del (p.Leu750del)
n.3352+150_3352+152del
n.3365_3367del
n.3258_3260del
c.3475_3477del (p.Leu1159del)
c.3400_3402del (p.Leu1134del)
c.3379_3381del (p.Leu1127del)
c.3277_3279del (p.Leu1093del)
c.2338_2340del (p.Leu780del)
n.3438+150_3438+152del
n.3451_3453del
n.3342_3344del
n.3205_3207del
n.3007_3009del
 gnomAD v4
8g.144511993A>CCA372668776RECQL4c.3311T>G (p.Leu1104Arg)
c.328T>G
n.50-204T>G
c.557T>G (p.Leu186Arg)
c.2240T>G (p.Leu747Arg)
c.3386T>G (p.Leu1129Arg)
c.3290T>G (p.Leu1097Arg)
c.3194T>G (p.Leu1065Arg)
c.3188T>G (p.Leu1063Arg)
c.3113T>G (p.Leu1038Arg)
c.2249T>G (p.Leu750Arg)
n.3352+151T>G
n.3366T>G
n.3259T>G
c.3476T>G (p.Leu1159Arg)
c.3401T>G (p.Leu1134Arg)
c.3380T>G (p.Leu1127Arg)
c.3278T>G (p.Leu1093Arg)
c.2339T>G (p.Leu780Arg)
n.3438+151T>G
n.3452T>G
n.3343T>G
n.3206T>G
n.3008T>G
8g.144511993A>GCA372668777RECQL4c.3311T>C (p.Leu1104Pro)
c.328T>C
n.50-204T>C
c.557T>C (p.Leu186Pro)
c.2240T>C (p.Leu747Pro)
c.3386T>C (p.Leu1129Pro)
c.3290T>C (p.Leu1097Pro)
c.3194T>C (p.Leu1065Pro)
c.3188T>C (p.Leu1063Pro)
c.3113T>C (p.Leu1038Pro)
c.2249T>C (p.Leu750Pro)
n.3352+151T>C
n.3366T>C
n.3259T>C
c.3476T>C (p.Leu1159Pro)
c.3401T>C (p.Leu1134Pro)
c.3380T>C (p.Leu1127Pro)
c.3278T>C (p.Leu1093Pro)
c.2339T>C (p.Leu780Pro)
n.3438+151T>C
n.3452T>C
n.3343T>C
n.3206T>C
n.3008T>C
 dbSNP
8g.144511993A>TCA372668781RECQL4c.3311T>A (p.Leu1104His)
c.328T>A
n.50-204T>A
c.557T>A (p.Leu186His)
c.2240T>A (p.Leu747His)
c.3386T>A (p.Leu1129His)
c.3290T>A (p.Leu1097His)
c.3194T>A (p.Leu1065His)
c.3188T>A (p.Leu1063His)
c.3113T>A (p.Leu1038His)
c.2249T>A (p.Leu750His)
n.3352+151T>A
n.3366T>A
n.3259T>A
c.3476T>A (p.Leu1159His)
c.3401T>A (p.Leu1134His)
c.3380T>A (p.Leu1127His)
c.3278T>A (p.Leu1093His)
c.2339T>A (p.Leu780His)
n.3438+151T>A
n.3452T>A
n.3343T>A
n.3206T>A
n.3008T>A
8g.144511994G>ACA372668785RECQL4c.3310C>T (p.Leu1104Phe)
c.327C>T
n.50-205C>T
c.556C>T (p.Leu186Phe)
c.2239C>T (p.Leu747Phe)
c.3385C>T (p.Leu1129Phe)
c.3289C>T (p.Leu1097Phe)
c.3193C>T (p.Leu1065Phe)
c.3187C>T (p.Leu1063Phe)
c.3112C>T (p.Leu1038Phe)
c.2248C>T (p.Leu750Phe)
n.3352+150C>T
n.3365C>T
n.3258C>T
c.3475C>T (p.Leu1159Phe)
c.3400C>T (p.Leu1134Phe)
c.3379C>T (p.Leu1127Phe)
c.3277C>T (p.Leu1093Phe)
c.2338C>T (p.Leu780Phe)
n.3438+150C>T
n.3451C>T
n.3342C>T
n.3205C>T
n.3007C>T
 dbSNP
8g.144511994G>CCA372668789RECQL4c.3310C>G (p.Leu1104Val)
c.327C>G
n.50-205C>G
c.556C>G (p.Leu186Val)
c.2239C>G (p.Leu747Val)
c.3385C>G (p.Leu1129Val)
c.3289C>G (p.Leu1097Val)
c.3193C>G (p.Leu1065Val)
c.3187C>G (p.Leu1063Val)
c.3112C>G (p.Leu1038Val)
c.2248C>G (p.Leu750Val)
n.3352+150C>G
n.3365C>G
n.3258C>G
c.3475C>G (p.Leu1159Val)
c.3400C>G (p.Leu1134Val)
c.3379C>G (p.Leu1127Val)
c.3277C>G (p.Leu1093Val)
c.2338C>G (p.Leu780Val)
n.3438+150C>G
n.3451C>G
n.3342C>G
n.3205C>G
n.3007C>G
 dbSNP
8g.144511994G>TCA372668795RECQL4c.3310C>A (p.Leu1104Ile)
c.327C>A
n.50-205C>A
c.556C>A (p.Leu186Ile)
c.2239C>A (p.Leu747Ile)
c.3385C>A (p.Leu1129Ile)
c.3289C>A (p.Leu1097Ile)
c.3193C>A (p.Leu1065Ile)
c.3187C>A (p.Leu1063Ile)
c.3112C>A (p.Leu1038Ile)
c.2248C>A (p.Leu750Ile)
n.3352+150C>A
n.3365C>A
n.3258C>A
c.3475C>A (p.Leu1159Ile)
c.3400C>A (p.Leu1134Ile)
c.3379C>A (p.Leu1127Ile)
c.3277C>A (p.Leu1093Ile)
c.2338C>A (p.Leu780Ile)
n.3438+150C>A
n.3451C>A
n.3342C>A
n.3205C>A
n.3007C>A
 gnomAD v4
8g.144511996_144512017dupCA2580078782RECQL4c.3289_3310dup (p.Leu1104GlnfsTer13)
c.306_327dup
n.50-226_50-205dup
c.535_556dup (p.Leu186GlnfsTer13)
c.2218_2239dup (p.Leu747GlnfsTer13)
c.3364_3385dup (p.Leu1129GlnfsTer13)
c.3268_3289dup (p.Leu1097GlnfsTer13)
c.3172_3193dup (p.Leu1065GlnfsTer13)
c.3166_3187dup (p.Leu1063GlnfsTer13)
c.3091_3112dup (p.Leu1038GlnfsTer13)
c.2227_2248dup (p.Leu750GlnfsTer13)
n.3352+129_3352+150dup
n.3344_3365dup
n.3237_3258dup
c.3454_3475dup (p.Leu1159GlnfsTer13)
c.3379_3400dup (p.Leu1134GlnfsTer13)
c.3358_3379dup (p.Leu1127GlnfsTer13)
c.3256_3277dup (p.Leu1093GlnfsTer13)
c.2317_2338dup (p.Leu780GlnfsTer13)
n.3438+129_3438+150dup
n.3430_3451dup
n.3321_3342dup
n.3184_3205dup
n.2986_3007dup
 ClinVar
8g.144511995C>ACA187679117RECQL4c.3309G>T (p.Leu1103=)
c.326G>T
n.50-206G>T
c.555G>T (p.Leu185=)
c.2238G>T (p.Leu746=)
c.3384G>T (p.Leu1128=)
c.3288G>T (p.Leu1096=)
c.3192G>T (p.Leu1064=)
c.3186G>T (p.Leu1062=)
c.3111G>T (p.Leu1037=)
c.2247G>T (p.Leu749=)
n.3352+149G>T
n.3364G>T
n.3257G>T
c.3474G>T (p.Leu1158=)
c.3399G>T (p.Leu1133=)
c.3378G>T (p.Leu1126=)
c.3276G>T (p.Leu1092=)
c.2337G>T (p.Leu779=)
n.3438+149G>T
n.3450G>T
n.3341G>T
n.3204G>T
n.3006G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144511995C=CA1826365522RECQL4c.3309G= (p.Leu1103=)
c.326G=
n.50-206G=
c.555G= (p.Leu185=)
c.2238G= (p.Leu746=)
c.3384G= (p.Leu1128=)
c.3288G= (p.Leu1096=)
c.3192G= (p.Leu1064=)
c.3186G= (p.Leu1062=)
c.3111G= (p.Leu1037=)
c.2247G= (p.Leu749=)
n.3352+149G=
n.3364G=
n.3257G=
c.3474G= (p.Leu1158=)
c.3399G= (p.Leu1133=)
c.3378G= (p.Leu1126=)
c.3276G= (p.Leu1092=)
c.2337G= (p.Leu779=)
n.3438+149G=
n.3450G=
n.3341G=
n.3204G=
n.3006G=
8g.144511995C>GCA463565883RECQL4c.3309G>C (p.Leu1103=)
c.326G>C
n.50-206G>C
c.555G>C (p.Leu185=)
c.2238G>C (p.Leu746=)
c.3384G>C (p.Leu1128=)
c.3288G>C (p.Leu1096=)
c.3192G>C (p.Leu1064=)
c.3186G>C (p.Leu1062=)
c.3111G>C (p.Leu1037=)
c.2247G>C (p.Leu749=)
n.3352+149G>C
n.3364G>C
n.3257G>C
c.3474G>C (p.Leu1158=)
c.3399G>C (p.Leu1133=)
c.3378G>C (p.Leu1126=)
c.3276G>C (p.Leu1092=)
c.2337G>C (p.Leu779=)
n.3438+149G>C
n.3450G>C
n.3341G>C
n.3204G>C
n.3006G>C
 ClinVar
8g.144511995C>TCA463565884RECQL4c.3309G>A (p.Leu1103=)
c.326G>A
n.50-206G>A
c.555G>A (p.Leu185=)
c.2238G>A (p.Leu746=)
c.3384G>A (p.Leu1128=)
c.3288G>A (p.Leu1096=)
c.3192G>A (p.Leu1064=)
c.3186G>A (p.Leu1062=)
c.3111G>A (p.Leu1037=)
c.2247G>A (p.Leu749=)
n.3352+149G>A
n.3364G>A
n.3257G>A
c.3474G>A (p.Leu1158=)
c.3399G>A (p.Leu1133=)
c.3378G>A (p.Leu1126=)
c.3276G>A (p.Leu1092=)
c.2337G>A (p.Leu779=)
n.3438+149G>A
n.3450G>A
n.3341G>A
n.3204G>A
n.3006G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511996A=CA1826365523RECQL4c.3308T= (p.Leu1103=)
c.325T=
n.50-207T=
c.554T= (p.Leu185=)
c.2237T= (p.Leu746=)
c.3383T= (p.Leu1128=)
c.3287T= (p.Leu1096=)
c.3191T= (p.Leu1064=)
c.3185T= (p.Leu1062=)
c.3110T= (p.Leu1037=)
c.2246T= (p.Leu749=)
n.3352+148T=
n.3363T=
n.3256T=
c.3473T= (p.Leu1158=)
c.3398T= (p.Leu1133=)
c.3377T= (p.Leu1126=)
c.3275T= (p.Leu1092=)
c.2336T= (p.Leu779=)
n.3438+148T=
n.3449T=
n.3340T=
n.3203T=
n.3005T=
8g.144511996A>CCA372668798RECQL4c.3308T>G (p.Leu1103Arg)
c.325T>G
n.50-207T>G
c.554T>G (p.Leu185Arg)
c.2237T>G (p.Leu746Arg)
c.3383T>G (p.Leu1128Arg)
c.3287T>G (p.Leu1096Arg)
c.3191T>G (p.Leu1064Arg)
c.3185T>G (p.Leu1062Arg)
c.3110T>G (p.Leu1037Arg)
c.2246T>G (p.Leu749Arg)
n.3352+148T>G
n.3363T>G
n.3256T>G
c.3473T>G (p.Leu1158Arg)
c.3398T>G (p.Leu1133Arg)
c.3377T>G (p.Leu1126Arg)
c.3275T>G (p.Leu1092Arg)
c.2336T>G (p.Leu779Arg)
n.3438+148T>G
n.3449T>G
n.3340T>G
n.3203T>G
n.3005T>G
 ClinVar dbSNP
8g.144511996A>GCA372668799RECQL4c.3308T>C (p.Leu1103Pro)
c.325T>C
n.50-207T>C
c.554T>C (p.Leu185Pro)
c.2237T>C (p.Leu746Pro)
c.3383T>C (p.Leu1128Pro)
c.3287T>C (p.Leu1096Pro)
c.3191T>C (p.Leu1064Pro)
c.3185T>C (p.Leu1062Pro)
c.3110T>C (p.Leu1037Pro)
c.2246T>C (p.Leu749Pro)
n.3352+148T>C
n.3363T>C
n.3256T>C
c.3473T>C (p.Leu1158Pro)
c.3398T>C (p.Leu1133Pro)
c.3377T>C (p.Leu1126Pro)
c.3275T>C (p.Leu1092Pro)
c.2336T>C (p.Leu779Pro)
n.3438+148T>C
n.3449T>C
n.3340T>C
n.3203T>C
n.3005T>C
8g.144511996A>TCA372668803RECQL4c.3308T>A (p.Leu1103Gln)
c.325T>A
n.50-207T>A
c.554T>A (p.Leu185Gln)
c.2237T>A (p.Leu746Gln)
c.3383T>A (p.Leu1128Gln)
c.3287T>A (p.Leu1096Gln)
c.3191T>A (p.Leu1064Gln)
c.3185T>A (p.Leu1062Gln)
c.3110T>A (p.Leu1037Gln)
c.2246T>A (p.Leu749Gln)
n.3352+148T>A
n.3363T>A
n.3256T>A
c.3473T>A (p.Leu1158Gln)
c.3398T>A (p.Leu1133Gln)
c.3377T>A (p.Leu1126Gln)
c.3275T>A (p.Leu1092Gln)
c.2336T>A (p.Leu779Gln)
n.3438+148T>A
n.3449T>A
n.3340T>A
n.3203T>A
n.3005T>A
 dbSNP
8g.144511997G>ACA463565886RECQL4c.3307C>T (p.Leu1103=)
c.324C>T
n.50-208C>T
c.553C>T (p.Leu185=)
c.2236C>T (p.Leu746=)
c.3382C>T (p.Leu1128=)
c.3286C>T (p.Leu1096=)
c.3190C>T (p.Leu1064=)
c.3184C>T (p.Leu1062=)
c.3109C>T (p.Leu1037=)
c.2245C>T (p.Leu749=)
n.3352+147C>T
n.3362C>T
n.3255C>T
c.3472C>T (p.Leu1158=)
c.3397C>T (p.Leu1133=)
c.3376C>T (p.Leu1126=)
c.3274C>T (p.Leu1092=)
c.2335C>T (p.Leu779=)
n.3438+147C>T
n.3448C>T
n.3339C>T
n.3202C>T
n.3004C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511997G>CCA372668809RECQL4c.3307C>G (p.Leu1103Val)
c.324C>G
n.50-208C>G
c.553C>G (p.Leu185Val)
c.2236C>G (p.Leu746Val)
c.3382C>G (p.Leu1128Val)
c.3286C>G (p.Leu1096Val)
c.3190C>G (p.Leu1064Val)
c.3184C>G (p.Leu1062Val)
c.3109C>G (p.Leu1037Val)
c.2245C>G (p.Leu749Val)
n.3352+147C>G
n.3362C>G
n.3255C>G
c.3472C>G (p.Leu1158Val)
c.3397C>G (p.Leu1133Val)
c.3376C>G (p.Leu1126Val)
c.3274C>G (p.Leu1092Val)
c.2335C>G (p.Leu779Val)
n.3438+147C>G
n.3448C>G
n.3339C>G
n.3202C>G
n.3004C>G
8g.144511997G=CA1826365524RECQL4c.3307C= (p.Leu1103=)
c.324C=
n.50-208C=
c.553C= (p.Leu185=)
c.2236C= (p.Leu746=)
c.3382C= (p.Leu1128=)
c.3286C= (p.Leu1096=)
c.3190C= (p.Leu1064=)
c.3184C= (p.Leu1062=)
c.3109C= (p.Leu1037=)
c.2245C= (p.Leu749=)
n.3352+147C=
n.3362C=
n.3255C=
c.3472C= (p.Leu1158=)
c.3397C= (p.Leu1133=)
c.3376C= (p.Leu1126=)
c.3274C= (p.Leu1092=)
c.2335C= (p.Leu779=)
n.3438+147C=
n.3448C=
n.3339C=
n.3202C=
n.3004C=
8g.144511997G>TCA372668814RECQL4c.3307C>A (p.Leu1103Met)
c.324C>A
n.50-208C>A
c.553C>A (p.Leu185Met)
c.2236C>A (p.Leu746Met)
c.3382C>A (p.Leu1128Met)
c.3286C>A (p.Leu1096Met)
c.3190C>A (p.Leu1064Met)
c.3184C>A (p.Leu1062Met)
c.3109C>A (p.Leu1037Met)
c.2245C>A (p.Leu749Met)
n.3352+147C>A
n.3362C>A
n.3255C>A
c.3472C>A (p.Leu1158Met)
c.3397C>A (p.Leu1133Met)
c.3376C>A (p.Leu1126Met)
c.3274C>A (p.Leu1092Met)
c.2335C>A (p.Leu779Met)
n.3438+147C>A
n.3448C>A
n.3339C>A
n.3202C>A
n.3004C>A
 COSMIC
8g.144511998G>ACA463565890RECQL4c.3306C>T (p.Asp1102=)
c.323C>T
n.50-209C>T
c.552C>T (p.Asp184=)
c.2235C>T (p.Asp745=)
c.3381C>T (p.Asp1127=)
c.3285C>T (p.Asp1095=)
c.3189C>T (p.Asp1063=)
c.3183C>T (p.Asp1061=)
c.3108C>T (p.Asp1036=)
c.2244C>T (p.Asp748=)
n.3352+146C>T
n.3361C>T
n.3254C>T
c.3471C>T (p.Asp1157=)
c.3396C>T (p.Asp1132=)
c.3375C>T (p.Asp1125=)
c.3273C>T (p.Asp1091=)
c.2334C>T (p.Asp778=)
n.3438+146C>T
n.3447C>T
n.3338C>T
n.3201C>T
n.3003C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144511998G>CCA372668828RECQL4c.3306C>G (p.Asp1102Glu)
c.323C>G
n.50-209C>G
c.552C>G (p.Asp184Glu)
c.2235C>G (p.Asp745Glu)
c.3381C>G (p.Asp1127Glu)
c.3285C>G (p.Asp1095Glu)
c.3189C>G (p.Asp1063Glu)
c.3183C>G (p.Asp1061Glu)
c.3108C>G (p.Asp1036Glu)
c.2244C>G (p.Asp748Glu)
n.3352+146C>G
n.3361C>G
n.3254C>G
c.3471C>G (p.Asp1157Glu)
c.3396C>G (p.Asp1132Glu)
c.3375C>G (p.Asp1125Glu)
c.3273C>G (p.Asp1091Glu)
c.2334C>G (p.Asp778Glu)
n.3438+146C>G
n.3447C>G
n.3338C>G
n.3201C>G
n.3003C>G
 gnomAD v4
8g.144511998G=CA1826365525RECQL4c.3306C= (p.Asp1102=)
c.323C=
n.50-209C=
c.552C= (p.Asp184=)
c.2235C= (p.Asp745=)
c.3381C= (p.Asp1127=)
c.3285C= (p.Asp1095=)
c.3189C= (p.Asp1063=)
c.3183C= (p.Asp1061=)
c.3108C= (p.Asp1036=)
c.2244C= (p.Asp748=)
n.3352+146C=
n.3361C=
n.3254C=
c.3471C= (p.Asp1157=)
c.3396C= (p.Asp1132=)
c.3375C= (p.Asp1125=)
c.3273C= (p.Asp1091=)
c.2334C= (p.Asp778=)
n.3438+146C=
n.3447C=
n.3338C=
n.3201C=
n.3003C=
8g.144511998G>TCA372668834RECQL4c.3306C>A (p.Asp1102Glu)
c.323C>A
n.50-209C>A
c.552C>A (p.Asp184Glu)
c.2235C>A (p.Asp745Glu)
c.3381C>A (p.Asp1127Glu)
c.3285C>A (p.Asp1095Glu)
c.3189C>A (p.Asp1063Glu)
c.3183C>A (p.Asp1061Glu)
c.3108C>A (p.Asp1036Glu)
c.2244C>A (p.Asp748Glu)
n.3352+146C>A
n.3361C>A
n.3254C>A
c.3471C>A (p.Asp1157Glu)
c.3396C>A (p.Asp1132Glu)
c.3375C>A (p.Asp1125Glu)
c.3273C>A (p.Asp1091Glu)
c.2334C>A (p.Asp778Glu)
n.3438+146C>A
n.3447C>A
n.3338C>A
n.3201C>A
n.3003C>A
8g.144511999T>ACA372668839RECQL4c.3305A>T (p.Asp1102Val)
c.322A>T
n.50-210A>T
c.551A>T (p.Asp184Val)
c.2234A>T (p.Asp745Val)
c.3380A>T (p.Asp1127Val)
c.3284A>T (p.Asp1095Val)
c.3188A>T (p.Asp1063Val)
c.3182A>T (p.Asp1061Val)
c.3107A>T (p.Asp1036Val)
c.2243A>T (p.Asp748Val)
n.3352+145A>T
n.3360A>T
n.3253A>T
c.3470A>T (p.Asp1157Val)
c.3395A>T (p.Asp1132Val)
c.3374A>T (p.Asp1125Val)
c.3272A>T (p.Asp1091Val)
c.2333A>T (p.Asp778Val)
n.3438+145A>T
n.3446A>T
n.3337A>T
n.3200A>T
n.3002A>T
 dbSNP
8g.144511999T>CCA4947823RECQL4c.3305A>G (p.Asp1102Gly)
c.322A>G
n.50-210A>G
c.551A>G (p.Asp184Gly)
c.2234A>G (p.Asp745Gly)
c.3380A>G (p.Asp1127Gly)
c.3284A>G (p.Asp1095Gly)
c.3188A>G (p.Asp1063Gly)
c.3182A>G (p.Asp1061Gly)
c.3107A>G (p.Asp1036Gly)
c.2243A>G (p.Asp748Gly)
n.3352+145A>G
n.3360A>G
n.3253A>G
c.3470A>G (p.Asp1157Gly)
c.3395A>G (p.Asp1132Gly)
c.3374A>G (p.Asp1125Gly)
c.3272A>G (p.Asp1091Gly)
c.2333A>G (p.Asp778Gly)
n.3438+145A>G
n.3446A>G
n.3337A>G
n.3200A>G
n.3002A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144511999T>GCA372668847RECQL4c.3305A>C (p.Asp1102Ala)
c.322A>C
n.50-210A>C
c.551A>C (p.Asp184Ala)
c.2234A>C (p.Asp745Ala)
c.3380A>C (p.Asp1127Ala)
c.3284A>C (p.Asp1095Ala)
c.3188A>C (p.Asp1063Ala)
c.3182A>C (p.Asp1061Ala)
c.3107A>C (p.Asp1036Ala)
c.2243A>C (p.Asp748Ala)
n.3352+145A>C
n.3360A>C
n.3253A>C
c.3470A>C (p.Asp1157Ala)
c.3395A>C (p.Asp1132Ala)
c.3374A>C (p.Asp1125Ala)
c.3272A>C (p.Asp1091Ala)
c.2333A>C (p.Asp778Ala)
n.3438+145A>C
n.3446A>C
n.3337A>C
n.3200A>C
n.3002A>C
 dbSNP
8g.144511999T=CA1826365526RECQL4c.3305A= (p.Asp1102=)
c.322A=
n.50-210A=
c.551A= (p.Asp184=)
c.2234A= (p.Asp745=)
c.3380A= (p.Asp1127=)
c.3284A= (p.Asp1095=)
c.3188A= (p.Asp1063=)
c.3182A= (p.Asp1061=)
c.3107A= (p.Asp1036=)
c.2243A= (p.Asp748=)
n.3352+145A=
n.3360A=
n.3253A=
c.3470A= (p.Asp1157=)
c.3395A= (p.Asp1132=)
c.3374A= (p.Asp1125=)
c.3272A= (p.Asp1091=)
c.2333A= (p.Asp778=)
n.3438+145A=
n.3446A=
n.3337A=
n.3200A=
n.3002A=
8g.144512000C>ACA372668855RECQL4c.3304G>T (p.Asp1102Tyr)
c.321G>T
n.50-211G>T
c.550G>T (p.Asp184Tyr)
c.2233G>T (p.Asp745Tyr)
c.3379G>T (p.Asp1127Tyr)
c.3283G>T (p.Asp1095Tyr)
c.3187G>T (p.Asp1063Tyr)
c.3181G>T (p.Asp1061Tyr)
c.3106G>T (p.Asp1036Tyr)
c.2242G>T (p.Asp748Tyr)
n.3352+144G>T
n.3359G>T
n.3252G>T
c.3469G>T (p.Asp1157Tyr)
c.3394G>T (p.Asp1132Tyr)
c.3373G>T (p.Asp1125Tyr)
c.3271G>T (p.Asp1091Tyr)
c.2332G>T (p.Asp778Tyr)
n.3438+144G>T
n.3445G>T
n.3336G>T
n.3199G>T
n.3001G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144512000C=CA1826365527RECQL4c.3304G= (p.Asp1102=)
c.321G=
n.50-211G=
c.550G= (p.Asp184=)
c.2233G= (p.Asp745=)
c.3379G= (p.Asp1127=)
c.3283G= (p.Asp1095=)
c.3187G= (p.Asp1063=)
c.3181G= (p.Asp1061=)
c.3106G= (p.Asp1036=)
c.2242G= (p.Asp748=)
n.3352+144G=
n.3359G=
n.3252G=
c.3469G= (p.Asp1157=)
c.3394G= (p.Asp1132=)
c.3373G= (p.Asp1125=)
c.3271G= (p.Asp1091=)
c.2332G= (p.Asp778=)
n.3438+144G=
n.3445G=
n.3336G=
n.3199G=
n.3001G=
8g.144512000C>GCA372668859RECQL4c.3304G>C (p.Asp1102His)
c.321G>C
n.50-211G>C
c.550G>C (p.Asp184His)
c.2233G>C (p.Asp745His)
c.3379G>C (p.Asp1127His)
c.3283G>C (p.Asp1095His)
c.3187G>C (p.Asp1063His)
c.3181G>C (p.Asp1061His)
c.3106G>C (p.Asp1036His)
c.2242G>C (p.Asp748His)
n.3352+144G>C
n.3359G>C
n.3252G>C
c.3469G>C (p.Asp1157His)
c.3394G>C (p.Asp1132His)
c.3373G>C (p.Asp1125His)
c.3271G>C (p.Asp1091His)
c.2332G>C (p.Asp778His)
n.3438+144G>C
n.3445G>C
n.3336G>C
n.3199G>C
n.3001G>C
8g.144512000C>TCA372668862RECQL4c.3304G>A (p.Asp1102Asn)
c.321G>A
n.50-211G>A
c.550G>A (p.Asp184Asn)
c.2233G>A (p.Asp745Asn)
c.3379G>A (p.Asp1127Asn)
c.3283G>A (p.Asp1095Asn)
c.3187G>A (p.Asp1063Asn)
c.3181G>A (p.Asp1061Asn)
c.3106G>A (p.Asp1036Asn)
c.2242G>A (p.Asp748Asn)
n.3352+144G>A
n.3359G>A
n.3252G>A
c.3469G>A (p.Asp1157Asn)
c.3394G>A (p.Asp1132Asn)
c.3373G>A (p.Asp1125Asn)
c.3271G>A (p.Asp1091Asn)
c.2332G>A (p.Asp778Asn)
n.3438+144G>A
n.3445G>A
n.3336G>A
n.3199G>A
n.3001G>A
 ClinVar dbSNP gnomAD v4
8g.144512001C>ACA372668864RECQL4c.3303G>T (p.Lys1101Asn)
c.320G>T
n.50-212G>T
c.549G>T (p.Lys183Asn)
c.2232G>T (p.Lys744Asn)
c.3378G>T (p.Lys1126Asn)
c.3282G>T (p.Lys1094Asn)
c.3186G>T (p.Lys1062Asn)
c.3180G>T (p.Lys1060Asn)
c.3105G>T (p.Lys1035Asn)
c.2241G>T (p.Lys747Asn)
n.3352+143G>T
n.3358G>T
n.3251G>T
c.3468G>T (p.Lys1156Asn)
c.3393G>T (p.Lys1131Asn)
c.3372G>T (p.Lys1124Asn)
c.3270G>T (p.Lys1090Asn)
c.2331G>T (p.Lys777Asn)
n.3438+143G>T
n.3444G>T
n.3335G>T
n.3198G>T
n.3000G>T
 gnomAD v4
8g.144512001C=CA1826365528RECQL4c.3303G= (p.Lys1101=)
c.320G=
n.50-212G=
c.549G= (p.Lys183=)
c.2232G= (p.Lys744=)
c.3378G= (p.Lys1126=)
c.3282G= (p.Lys1094=)
c.3186G= (p.Lys1062=)
c.3180G= (p.Lys1060=)
c.3105G= (p.Lys1035=)
c.2241G= (p.Lys747=)
n.3352+143G=
n.3358G=
n.3251G=
c.3468G= (p.Lys1156=)
c.3393G= (p.Lys1131=)
c.3372G= (p.Lys1124=)
c.3270G= (p.Lys1090=)
c.2331G= (p.Lys777=)
n.3438+143G=
n.3444G=
n.3335G=
n.3198G=
n.3000G=
8g.144512001C>GCA372668867RECQL4c.3303G>C (p.Lys1101Asn)
c.320G>C
n.50-212G>C
c.549G>C (p.Lys183Asn)
c.2232G>C (p.Lys744Asn)
c.3378G>C (p.Lys1126Asn)
c.3282G>C (p.Lys1094Asn)
c.3186G>C (p.Lys1062Asn)
c.3180G>C (p.Lys1060Asn)
c.3105G>C (p.Lys1035Asn)
c.2241G>C (p.Lys747Asn)
n.3352+143G>C
n.3358G>C
n.3251G>C
c.3468G>C (p.Lys1156Asn)
c.3393G>C (p.Lys1131Asn)
c.3372G>C (p.Lys1124Asn)
c.3270G>C (p.Lys1090Asn)
c.2331G>C (p.Lys777Asn)
n.3438+143G>C
n.3444G>C
n.3335G>C
n.3198G>C
n.3000G>C
8g.144512001C>TCA4947824RECQL4c.3303G>A (p.Lys1101=)
c.320G>A
n.50-212G>A
c.549G>A (p.Lys183=)
c.2232G>A (p.Lys744=)
c.3378G>A (p.Lys1126=)
c.3282G>A (p.Lys1094=)
c.3186G>A (p.Lys1062=)
c.3180G>A (p.Lys1060=)
c.3105G>A (p.Lys1035=)
c.2241G>A (p.Lys747=)
n.3352+143G>A
n.3358G>A
n.3251G>A
c.3468G>A (p.Lys1156=)
c.3393G>A (p.Lys1131=)
c.3372G>A (p.Lys1124=)
c.3270G>A (p.Lys1090=)
c.2331G>A (p.Lys777=)
n.3438+143G>A
n.3444G>A
n.3335G>A
n.3198G>A
n.3000G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512002T>ACA372668872RECQL4c.3302A>T (p.Lys1101Met)
c.319A>T
n.50-213A>T
c.548A>T (p.Lys183Met)
c.2231A>T (p.Lys744Met)
c.3377A>T (p.Lys1126Met)
c.3281A>T (p.Lys1094Met)
c.3185A>T (p.Lys1062Met)
c.3179A>T (p.Lys1060Met)
c.3104A>T (p.Lys1035Met)
c.2240A>T (p.Lys747Met)
n.3352+142A>T
n.3357A>T
n.3250A>T
c.3467A>T (p.Lys1156Met)
c.3392A>T (p.Lys1131Met)
c.3371A>T (p.Lys1124Met)
c.3269A>T (p.Lys1090Met)
c.2330A>T (p.Lys777Met)
n.3438+142A>T
n.3443A>T
n.3334A>T
n.3197A>T
n.2999A>T
8g.144512002T>CCA372668873RECQL4c.3302A>G (p.Lys1101Arg)
c.319A>G
n.50-213A>G
c.548A>G (p.Lys183Arg)
c.2231A>G (p.Lys744Arg)
c.3377A>G (p.Lys1126Arg)
c.3281A>G (p.Lys1094Arg)
c.3185A>G (p.Lys1062Arg)
c.3179A>G (p.Lys1060Arg)
c.3104A>G (p.Lys1035Arg)
c.2240A>G (p.Lys747Arg)
n.3352+142A>G
n.3357A>G
n.3250A>G
c.3467A>G (p.Lys1156Arg)
c.3392A>G (p.Lys1131Arg)
c.3371A>G (p.Lys1124Arg)
c.3269A>G (p.Lys1090Arg)
c.2330A>G (p.Lys777Arg)
n.3438+142A>G
n.3443A>G
n.3334A>G
n.3197A>G
n.2999A>G
 gnomAD v4
8g.144512002T>GCA4947825RECQL4c.3302A>C (p.Lys1101Thr)
c.319A>C
n.50-213A>C
c.548A>C (p.Lys183Thr)
c.2231A>C (p.Lys744Thr)
c.3377A>C (p.Lys1126Thr)
c.3281A>C (p.Lys1094Thr)
c.3185A>C (p.Lys1062Thr)
c.3179A>C (p.Lys1060Thr)
c.3104A>C (p.Lys1035Thr)
c.2240A>C (p.Lys747Thr)
n.3352+142A>C
n.3357A>C
n.3250A>C
c.3467A>C (p.Lys1156Thr)
c.3392A>C (p.Lys1131Thr)
c.3371A>C (p.Lys1124Thr)
c.3269A>C (p.Lys1090Thr)
c.2330A>C (p.Lys777Thr)
n.3438+142A>C
n.3443A>C
n.3334A>C
n.3197A>C
n.2999A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512002T=CA1826365529RECQL4c.3302A= (p.Lys1101=)
c.319A=
n.50-213A=
c.548A= (p.Lys183=)
c.2231A= (p.Lys744=)
c.3377A= (p.Lys1126=)
c.3281A= (p.Lys1094=)
c.3185A= (p.Lys1062=)
c.3179A= (p.Lys1060=)
c.3104A= (p.Lys1035=)
c.2240A= (p.Lys747=)
n.3352+142A=
n.3357A=
n.3250A=
c.3467A= (p.Lys1156=)
c.3392A= (p.Lys1131=)
c.3371A= (p.Lys1124=)
c.3269A= (p.Lys1090=)
c.2330A= (p.Lys777=)
n.3438+142A=
n.3443A=
n.3334A=
n.3197A=
n.2999A=
8g.144512003T>ACA372668882RECQL4c.3301A>T (p.Lys1101Ter)
c.318A>T
n.50-214A>T
c.547A>T (p.Lys183Ter)
c.2230A>T (p.Lys744Ter)
c.3376A>T (p.Lys1126Ter)
c.3280A>T (p.Lys1094Ter)
c.3184A>T (p.Lys1062Ter)
c.3178A>T (p.Lys1060Ter)
c.3103A>T (p.Lys1035Ter)
c.2239A>T (p.Lys747Ter)
n.3352+141A>T
n.3356A>T
n.3249A>T
c.3466A>T (p.Lys1156Ter)
c.3391A>T (p.Lys1131Ter)
c.3370A>T (p.Lys1124Ter)
c.3268A>T (p.Lys1090Ter)
c.2329A>T (p.Lys777Ter)
n.3438+141A>T
n.3442A>T
n.3333A>T
n.3196A>T
n.2998A>T
8g.144512003T>CCA372668878RECQL4c.3301A>G (p.Lys1101Glu)
c.318A>G
n.50-214A>G
c.547A>G (p.Lys183Glu)
c.2230A>G (p.Lys744Glu)
c.3376A>G (p.Lys1126Glu)
c.3280A>G (p.Lys1094Glu)
c.3184A>G (p.Lys1062Glu)
c.3178A>G (p.Lys1060Glu)
c.3103A>G (p.Lys1035Glu)
c.2239A>G (p.Lys747Glu)
n.3352+141A>G
n.3356A>G
n.3249A>G
c.3466A>G (p.Lys1156Glu)
c.3391A>G (p.Lys1131Glu)
c.3370A>G (p.Lys1124Glu)
c.3268A>G (p.Lys1090Glu)
c.2329A>G (p.Lys777Glu)
n.3438+141A>G
n.3442A>G
n.3333A>G
n.3196A>G
n.2998A>G
8g.144512003T>GCA16612363RECQL4c.3301A>C (p.Lys1101Gln)
c.318A>C
n.50-214A>C
c.547A>C (p.Lys183Gln)
c.2230A>C (p.Lys744Gln)
c.3376A>C (p.Lys1126Gln)
c.3280A>C (p.Lys1094Gln)
c.3184A>C (p.Lys1062Gln)
c.3178A>C (p.Lys1060Gln)
c.3103A>C (p.Lys1035Gln)
c.2239A>C (p.Lys747Gln)
n.3352+141A>C
n.3356A>C
n.3249A>C
c.3466A>C (p.Lys1156Gln)
c.3391A>C (p.Lys1131Gln)
c.3370A>C (p.Lys1124Gln)
c.3268A>C (p.Lys1090Gln)
c.2329A>C (p.Lys777Gln)
n.3438+141A>C
n.3442A>C
n.3333A>C
n.3196A>C
n.2998A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.144512003T=CA1826365530RECQL4c.3301A= (p.Lys1101=)
c.318A=
n.50-214A=
c.547A= (p.Lys183=)
c.2230A= (p.Lys744=)
c.3376A= (p.Lys1126=)
c.3280A= (p.Lys1094=)
c.3184A= (p.Lys1062=)
c.3178A= (p.Lys1060=)
c.3103A= (p.Lys1035=)
c.2239A= (p.Lys747=)
n.3352+141A=
n.3356A=
n.3249A=
c.3466A= (p.Lys1156=)
c.3391A= (p.Lys1131=)
c.3370A= (p.Lys1124=)
c.3268A= (p.Lys1090=)
c.2329A= (p.Lys777=)
n.3438+141A=
n.3442A=
n.3333A=
n.3196A=
n.2998A=
8g.144512004G>ACA463565902RECQL4c.3300C>T (p.Leu1100=)
c.317C>T
n.50-215C>T
c.546C>T (p.Leu182=)
c.2229C>T (p.Leu743=)
c.3375C>T (p.Leu1125=)
c.3279C>T (p.Leu1093=)
c.3183C>T (p.Leu1061=)
c.3177C>T (p.Leu1059=)
c.3102C>T (p.Leu1034=)
c.2238C>T (p.Leu746=)
n.3352+140C>T
n.3355C>T
n.3248C>T
c.3465C>T (p.Leu1155=)
c.3390C>T (p.Leu1130=)
c.3369C>T (p.Leu1123=)
c.3267C>T (p.Leu1089=)
c.2328C>T (p.Leu776=)
n.3438+140C>T
n.3441C>T
n.3332C>T
n.3195C>T
n.2997C>T
8g.144512004G>CCA463565904RECQL4c.3300C>G (p.Leu1100=)
c.317C>G
n.50-215C>G
c.546C>G (p.Leu182=)
c.2229C>G (p.Leu743=)
c.3375C>G (p.Leu1125=)
c.3279C>G (p.Leu1093=)
c.3183C>G (p.Leu1061=)
c.3177C>G (p.Leu1059=)
c.3102C>G (p.Leu1034=)
c.2238C>G (p.Leu746=)
n.3352+140C>G
n.3355C>G
n.3248C>G
c.3465C>G (p.Leu1155=)
c.3390C>G (p.Leu1130=)
c.3369C>G (p.Leu1123=)
c.3267C>G (p.Leu1089=)
c.2328C>G (p.Leu776=)
n.3438+140C>G
n.3441C>G
n.3332C>G
n.3195C>G
n.2997C>G
8g.144512004G>TCA463565903RECQL4c.3300C>A (p.Leu1100=)
c.317C>A
n.50-215C>A
c.546C>A (p.Leu182=)
c.2229C>A (p.Leu743=)
c.3375C>A (p.Leu1125=)
c.3279C>A (p.Leu1093=)
c.3183C>A (p.Leu1061=)
c.3177C>A (p.Leu1059=)
c.3102C>A (p.Leu1034=)
c.2238C>A (p.Leu746=)
n.3352+140C>A
n.3355C>A
n.3248C>A
c.3465C>A (p.Leu1155=)
c.3390C>A (p.Leu1130=)
c.3369C>A (p.Leu1123=)
c.3267C>A (p.Leu1089=)
c.2328C>A (p.Leu776=)
n.3438+140C>A
n.3441C>A
n.3332C>A
n.3195C>A
n.2997C>A
8g.144512005A>CCA372668885RECQL4c.3299T>G (p.Leu1100Arg)
c.316T>G
n.50-216T>G
c.545T>G (p.Leu182Arg)
c.2228T>G (p.Leu743Arg)
c.3374T>G (p.Leu1125Arg)
c.3278T>G (p.Leu1093Arg)
c.3182T>G (p.Leu1061Arg)
c.3176T>G (p.Leu1059Arg)
c.3101T>G (p.Leu1034Arg)
c.2237T>G (p.Leu746Arg)
n.3352+139T>G
n.3354T>G
n.3247T>G
c.3464T>G (p.Leu1155Arg)
c.3389T>G (p.Leu1130Arg)
c.3368T>G (p.Leu1123Arg)
c.3266T>G (p.Leu1089Arg)
c.2327T>G (p.Leu776Arg)
n.3438+139T>G
n.3440T>G
n.3331T>G
n.3194T>G
n.2996T>G
 dbSNP
8g.144512005A>GCA372668888RECQL4c.3299T>C (p.Leu1100Pro)
c.316T>C
n.50-216T>C
c.545T>C (p.Leu182Pro)
c.2228T>C (p.Leu743Pro)
c.3374T>C (p.Leu1125Pro)
c.3278T>C (p.Leu1093Pro)
c.3182T>C (p.Leu1061Pro)
c.3176T>C (p.Leu1059Pro)
c.3101T>C (p.Leu1034Pro)
c.2237T>C (p.Leu746Pro)
n.3352+139T>C
n.3354T>C
n.3247T>C
c.3464T>C (p.Leu1155Pro)
c.3389T>C (p.Leu1130Pro)
c.3368T>C (p.Leu1123Pro)
c.3266T>C (p.Leu1089Pro)
c.2327T>C (p.Leu776Pro)
n.3438+139T>C
n.3440T>C
n.3331T>C
n.3194T>C
n.2996T>C
 dbSNP
8g.144512005A>TCA372668889RECQL4c.3299T>A (p.Leu1100His)
c.316T>A
n.50-216T>A
c.545T>A (p.Leu182His)
c.2228T>A (p.Leu743His)
c.3374T>A (p.Leu1125His)
c.3278T>A (p.Leu1093His)
c.3182T>A (p.Leu1061His)
c.3176T>A (p.Leu1059His)
c.3101T>A (p.Leu1034His)
c.2237T>A (p.Leu746His)
n.3352+139T>A
n.3354T>A
n.3247T>A
c.3464T>A (p.Leu1155His)
c.3389T>A (p.Leu1130His)
c.3368T>A (p.Leu1123His)
c.3266T>A (p.Leu1089His)
c.2327T>A (p.Leu776His)
n.3438+139T>A
n.3440T>A
n.3331T>A
n.3194T>A
n.2996T>A
 dbSNP
8g.144512006G>ACA372668891RECQL4c.3298C>T (p.Leu1100Phe)
c.315C>T
n.50-217C>T
c.544C>T (p.Leu182Phe)
c.2227C>T (p.Leu743Phe)
c.3373C>T (p.Leu1125Phe)
c.3277C>T (p.Leu1093Phe)
c.3181C>T (p.Leu1061Phe)
c.3175C>T (p.Leu1059Phe)
c.3100C>T (p.Leu1034Phe)
c.2236C>T (p.Leu746Phe)
n.3352+138C>T
n.3353C>T
n.3246C>T
c.3463C>T (p.Leu1155Phe)
c.3388C>T (p.Leu1130Phe)
c.3367C>T (p.Leu1123Phe)
c.3265C>T (p.Leu1089Phe)
c.2326C>T (p.Leu776Phe)
n.3438+138C>T
n.3439C>T
n.3330C>T
n.3193C>T
n.2995C>T
 ClinVar
8g.144512006G>CCA372668895RECQL4c.3298C>G (p.Leu1100Val)
c.315C>G
n.50-217C>G
c.544C>G (p.Leu182Val)
c.2227C>G (p.Leu743Val)
c.3373C>G (p.Leu1125Val)
c.3277C>G (p.Leu1093Val)
c.3181C>G (p.Leu1061Val)
c.3175C>G (p.Leu1059Val)
c.3100C>G (p.Leu1034Val)
c.2236C>G (p.Leu746Val)
n.3352+138C>G
n.3353C>G
n.3246C>G
c.3463C>G (p.Leu1155Val)
c.3388C>G (p.Leu1130Val)
c.3367C>G (p.Leu1123Val)
c.3265C>G (p.Leu1089Val)
c.2326C>G (p.Leu776Val)
n.3438+138C>G
n.3439C>G
n.3330C>G
n.3193C>G
n.2995C>G
8g.144512006G>TCA372668897RECQL4c.3298C>A (p.Leu1100Ile)
c.315C>A
n.50-217C>A
c.544C>A (p.Leu182Ile)
c.2227C>A (p.Leu743Ile)
c.3373C>A (p.Leu1125Ile)
c.3277C>A (p.Leu1093Ile)
c.3181C>A (p.Leu1061Ile)
c.3175C>A (p.Leu1059Ile)
c.3100C>A (p.Leu1034Ile)
c.2236C>A (p.Leu746Ile)
n.3352+138C>A
n.3353C>A
n.3246C>A
c.3463C>A (p.Leu1155Ile)
c.3388C>A (p.Leu1130Ile)
c.3367C>A (p.Leu1123Ile)
c.3265C>A (p.Leu1089Ile)
c.2326C>A (p.Leu776Ile)
n.3438+138C>A
n.3439C>A
n.3330C>A
n.3193C>A
n.2995C>A
 gnomAD v4
8g.144512007C>ACA187679122RECQL4c.3297G>T (p.Arg1099Ser)
c.314G>T
n.50-218G>T
c.543G>T (p.Arg181Ser)
c.2226G>T (p.Arg742Ser)
c.3372G>T (p.Arg1124Ser)
c.3276G>T (p.Arg1092Ser)
c.3180G>T (p.Arg1060Ser)
c.3174G>T (p.Arg1058Ser)
c.3099G>T (p.Arg1033Ser)
c.2235G>T (p.Arg745Ser)
n.3352+137G>T
n.3352G>T
n.3245G>T
c.3462G>T (p.Arg1154Ser)
c.3387G>T (p.Arg1129Ser)
c.3366G>T (p.Arg1122Ser)
c.3264G>T (p.Arg1088Ser)
c.2325G>T (p.Arg775Ser)
n.3438+137G>T
n.3438G>T
n.3329G>T
n.3192G>T
n.2994G>T
 dbSNP
8g.144512007C=CA1826365531RECQL4c.3297G= (p.Arg1099=)
c.314G=
n.50-218G=
c.543G= (p.Arg181=)
c.2226G= (p.Arg742=)
c.3372G= (p.Arg1124=)
c.3276G= (p.Arg1092=)
c.3180G= (p.Arg1060=)
c.3174G= (p.Arg1058=)
c.3099G= (p.Arg1033=)
c.2235G= (p.Arg745=)
n.3352+137G=
n.3352G=
n.3245G=
c.3462G= (p.Arg1154=)
c.3387G= (p.Arg1129=)
c.3366G= (p.Arg1122=)
c.3264G= (p.Arg1088=)
c.2325G= (p.Arg775=)
n.3438+137G=
n.3438G=
n.3329G=
n.3192G=
n.2994G=
8g.144512007C>GCA372668899RECQL4c.3297G>C (p.Arg1099Ser)
c.314G>C
n.50-218G>C
c.543G>C (p.Arg181Ser)
c.2226G>C (p.Arg742Ser)
c.3372G>C (p.Arg1124Ser)
c.3276G>C (p.Arg1092Ser)
c.3180G>C (p.Arg1060Ser)
c.3174G>C (p.Arg1058Ser)
c.3099G>C (p.Arg1033Ser)
c.2235G>C (p.Arg745Ser)
n.3352+137G>C
n.3352G>C
n.3245G>C
c.3462G>C (p.Arg1154Ser)
c.3387G>C (p.Arg1129Ser)
c.3366G>C (p.Arg1122Ser)
c.3264G>C (p.Arg1088Ser)
c.2325G>C (p.Arg775Ser)
n.3438+137G>C
n.3438G>C
n.3329G>C
n.3192G>C
n.2994G>C
 dbSNP
8g.144512007C>TCA463565916RECQL4c.3297G>A (p.Arg1099=)
c.314G>A
n.50-218G>A
c.543G>A (p.Arg181=)
c.2226G>A (p.Arg742=)
c.3372G>A (p.Arg1124=)
c.3276G>A (p.Arg1092=)
c.3180G>A (p.Arg1060=)
c.3174G>A (p.Arg1058=)
c.3099G>A (p.Arg1033=)
c.2235G>A (p.Arg745=)
n.3352+137G>A
n.3352G>A
n.3245G>A
c.3462G>A (p.Arg1154=)
c.3387G>A (p.Arg1129=)
c.3366G>A (p.Arg1122=)
c.3264G>A (p.Arg1088=)
c.2325G>A (p.Arg775=)
n.3438+137G>A
n.3438G>A
n.3329G>A
n.3192G>A
n.2994G>A
 gnomAD v4
8g.144512008C>ACA372668905RECQL4c.3296G>T (p.Arg1099Met)
c.313G>T
n.50-219G>T
c.542G>T (p.Arg181Met)
c.2225G>T (p.Arg742Met)
c.3371G>T (p.Arg1124Met)
c.3275G>T (p.Arg1092Met)
c.3179G>T (p.Arg1060Met)
c.3173G>T (p.Arg1058Met)
c.3098G>T (p.Arg1033Met)
c.2234G>T (p.Arg745Met)
n.3352+136G>T
n.3351G>T
n.3244G>T
c.3461G>T (p.Arg1154Met)
c.3386G>T (p.Arg1129Met)
c.3365G>T (p.Arg1122Met)
c.3263G>T (p.Arg1088Met)
c.2324G>T (p.Arg775Met)
n.3438+136G>T
n.3437G>T
n.3328G>T
n.3191G>T
n.2993G>T
8g.144512008C=CA1826365532RECQL4c.3296G= (p.Arg1099=)
c.313G=
n.50-219G=
c.542G= (p.Arg181=)
c.2225G= (p.Arg742=)
c.3371G= (p.Arg1124=)
c.3275G= (p.Arg1092=)
c.3179G= (p.Arg1060=)
c.3173G= (p.Arg1058=)
c.3098G= (p.Arg1033=)
c.2234G= (p.Arg745=)
n.3352+136G=
n.3351G=
n.3244G=
c.3461G= (p.Arg1154=)
c.3386G= (p.Arg1129=)
c.3365G= (p.Arg1122=)
c.3263G= (p.Arg1088=)
c.2324G= (p.Arg775=)
n.3438+136G=
n.3437G=
n.3328G=
n.3191G=
n.2993G=
8g.144512008C>GCA372668907RECQL4c.3296G>C (p.Arg1099Thr)
c.313G>C
n.50-219G>C
c.542G>C (p.Arg181Thr)
c.2225G>C (p.Arg742Thr)
c.3371G>C (p.Arg1124Thr)
c.3275G>C (p.Arg1092Thr)
c.3179G>C (p.Arg1060Thr)
c.3173G>C (p.Arg1058Thr)
c.3098G>C (p.Arg1033Thr)
c.2234G>C (p.Arg745Thr)
n.3352+136G>C
n.3351G>C
n.3244G>C
c.3461G>C (p.Arg1154Thr)
c.3386G>C (p.Arg1129Thr)
c.3365G>C (p.Arg1122Thr)
c.3263G>C (p.Arg1088Thr)
c.2324G>C (p.Arg775Thr)
n.3438+136G>C
n.3437G>C
n.3328G>C
n.3191G>C
n.2993G>C
8g.144512008C>TCA4947826RECQL4c.3296G>A (p.Arg1099Lys)
c.313G>A
n.50-219G>A
c.542G>A (p.Arg181Lys)
c.2225G>A (p.Arg742Lys)
c.3371G>A (p.Arg1124Lys)
c.3275G>A (p.Arg1092Lys)
c.3179G>A (p.Arg1060Lys)
c.3173G>A (p.Arg1058Lys)
c.3098G>A (p.Arg1033Lys)
c.2234G>A (p.Arg745Lys)
n.3352+136G>A
n.3351G>A
n.3244G>A
c.3461G>A (p.Arg1154Lys)
c.3386G>A (p.Arg1129Lys)
c.3365G>A (p.Arg1122Lys)
c.3263G>A (p.Arg1088Lys)
c.2324G>A (p.Arg775Lys)
n.3438+136G>A
n.3437G>A
n.3328G>A
n.3191G>A
n.2993G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512009T>ACA372668912RECQL4c.3295A>T (p.Arg1099Trp)
c.312A>T
n.50-220A>T
c.541A>T (p.Arg181Trp)
c.2224A>T (p.Arg742Trp)
c.3370A>T (p.Arg1124Trp)
c.3274A>T (p.Arg1092Trp)
c.3178A>T (p.Arg1060Trp)
c.3172A>T (p.Arg1058Trp)
c.3097A>T (p.Arg1033Trp)
c.2233A>T (p.Arg745Trp)
n.3352+135A>T
n.3350A>T
n.3243A>T
c.3460A>T (p.Arg1154Trp)
c.3385A>T (p.Arg1129Trp)
c.3364A>T (p.Arg1122Trp)
c.3262A>T (p.Arg1088Trp)
c.2323A>T (p.Arg775Trp)
n.3438+135A>T
n.3436A>T
n.3327A>T
n.3190A>T
n.2992A>T
8g.144512009T>CCA4947827RECQL4c.3295A>G (p.Arg1099Gly)
c.312A>G
n.50-220A>G
c.541A>G (p.Arg181Gly)
c.2224A>G (p.Arg742Gly)
c.3370A>G (p.Arg1124Gly)
c.3274A>G (p.Arg1092Gly)
c.3178A>G (p.Arg1060Gly)
c.3172A>G (p.Arg1058Gly)
c.3097A>G (p.Arg1033Gly)
c.2233A>G (p.Arg745Gly)
n.3352+135A>G
n.3350A>G
n.3243A>G
c.3460A>G (p.Arg1154Gly)
c.3385A>G (p.Arg1129Gly)
c.3364A>G (p.Arg1122Gly)
c.3262A>G (p.Arg1088Gly)
c.2323A>G (p.Arg775Gly)
n.3438+135A>G
n.3436A>G
n.3327A>G
n.3190A>G
n.2992A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512009T>GCA463565923RECQL4c.3295A>C (p.Arg1099=)
c.312A>C
n.50-220A>C
c.541A>C (p.Arg181=)
c.2224A>C (p.Arg742=)
c.3370A>C (p.Arg1124=)
c.3274A>C (p.Arg1092=)
c.3178A>C (p.Arg1060=)
c.3172A>C (p.Arg1058=)
c.3097A>C (p.Arg1033=)
c.2233A>C (p.Arg745=)
n.3352+135A>C
n.3350A>C
n.3243A>C
c.3460A>C (p.Arg1154=)
c.3385A>C (p.Arg1129=)
c.3364A>C (p.Arg1122=)
c.3262A>C (p.Arg1088=)
c.2323A>C (p.Arg775=)
n.3438+135A>C
n.3436A>C
n.3327A>C
n.3190A>C
n.2992A>C
8g.144512009T=CA1826365533RECQL4c.3295A= (p.Arg1099=)
c.312A=
n.50-220A=
c.541A= (p.Arg181=)
c.2224A= (p.Arg742=)
c.3370A= (p.Arg1124=)
c.3274A= (p.Arg1092=)
c.3178A= (p.Arg1060=)
c.3172A= (p.Arg1058=)
c.3097A= (p.Arg1033=)
c.2233A= (p.Arg745=)
n.3352+135A=
n.3350A=
n.3243A=
c.3460A= (p.Arg1154=)
c.3385A= (p.Arg1129=)
c.3364A= (p.Arg1122=)
c.3262A= (p.Arg1088=)
c.2323A= (p.Arg775=)
n.3438+135A=
n.3436A=
n.3327A=
n.3190A=
n.2992A=
8g.144512010G>ACA463565926RECQL4c.3294C>T (p.Thr1098=)
c.311C>T
n.50-221C>T
c.540C>T (p.Thr180=)
c.2223C>T (p.Thr741=)
c.3369C>T (p.Thr1123=)
c.3273C>T (p.Thr1091=)
c.3177C>T (p.Thr1059=)
c.3171C>T (p.Thr1057=)
c.3096C>T (p.Thr1032=)
c.2232C>T (p.Thr744=)
n.3352+134C>T
n.3349C>T
n.3242C>T
c.3459C>T (p.Thr1153=)
c.3384C>T (p.Thr1128=)
c.3363C>T (p.Thr1121=)
c.3261C>T (p.Thr1087=)
c.2322C>T (p.Thr774=)
n.3438+134C>T
n.3435C>T
n.3326C>T
n.3189C>T
n.2991C>T
8g.144512010G>CCA463565929RECQL4c.3294C>G (p.Thr1098=)
c.311C>G
n.50-221C>G
c.540C>G (p.Thr180=)
c.2223C>G (p.Thr741=)
c.3369C>G (p.Thr1123=)
c.3273C>G (p.Thr1091=)
c.3177C>G (p.Thr1059=)
c.3171C>G (p.Thr1057=)
c.3096C>G (p.Thr1032=)
c.2232C>G (p.Thr744=)
n.3352+134C>G
n.3349C>G
n.3242C>G
c.3459C>G (p.Thr1153=)
c.3384C>G (p.Thr1128=)
c.3363C>G (p.Thr1121=)
c.3261C>G (p.Thr1087=)
c.2322C>G (p.Thr774=)
n.3438+134C>G
n.3435C>G
n.3326C>G
n.3189C>G
n.2991C>G
8g.144512010G=CA1826365534RECQL4c.3294C= (p.Thr1098=)
c.311C=
n.50-221C=
c.540C= (p.Thr180=)
c.2223C= (p.Thr741=)
c.3369C= (p.Thr1123=)
c.3273C= (p.Thr1091=)
c.3177C= (p.Thr1059=)
c.3171C= (p.Thr1057=)
c.3096C= (p.Thr1032=)
c.2232C= (p.Thr744=)
n.3352+134C=
n.3349C=
n.3242C=
c.3459C= (p.Thr1153=)
c.3384C= (p.Thr1128=)
c.3363C= (p.Thr1121=)
c.3261C= (p.Thr1087=)
c.2322C= (p.Thr774=)
n.3438+134C=
n.3435C=
n.3326C=
n.3189C=
n.2991C=
8g.144512010G>TCA4947828RECQL4c.3294C>A (p.Thr1098=)
c.311C>A
n.50-221C>A
c.540C>A (p.Thr180=)
c.2223C>A (p.Thr741=)
c.3369C>A (p.Thr1123=)
c.3273C>A (p.Thr1091=)
c.3177C>A (p.Thr1059=)
c.3171C>A (p.Thr1057=)
c.3096C>A (p.Thr1032=)
c.2232C>A (p.Thr744=)
n.3352+134C>A
n.3349C>A
n.3242C>A
c.3459C>A (p.Thr1153=)
c.3384C>A (p.Thr1128=)
c.3363C>A (p.Thr1121=)
c.3261C>A (p.Thr1087=)
c.2322C>A (p.Thr774=)
n.3438+134C>A
n.3435C>A
n.3326C>A
n.3189C>A
n.2991C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512011delCA2718727933RECQL4c.3294del (p.Arg1099GlyfsTer?)
c.311del
n.50-221del
c.540del (p.Arg181GlyfsTer?)
c.2223del (p.Arg742GlyfsTer?)
c.3369del (p.Arg1124GlyfsTer?)
c.3273del (p.Arg1092GlyfsTer?)
c.3177del (p.Arg1060GlyfsTer?)
c.3171del (p.Arg1058GlyfsTer?)
c.3096del (p.Arg1033GlyfsTer?)
c.2232del (p.Arg745GlyfsTer?)
n.3352+134del
n.3349del
n.3242del
c.3459del (p.Arg1154GlyfsTer?)
c.3384del (p.Arg1129GlyfsTer?)
c.3363del (p.Arg1122GlyfsTer?)
c.3261del (p.Arg1088GlyfsTer?)
c.2322del (p.Arg775GlyfsTer?)
n.3438+134del
n.3435del
n.3326del
n.3189del
n.2991del
 dbSNP
8g.144512010_144512011insTGCTGCGCTCCTCATCCTGCCA658822665RECQL4c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099GlnfsTer?)
c.310_311insGCAGGATGAGGAGCGCAGCA
n.50-222_50-221insGCAGGATGAGGAGCGCAGCA
c.539_540insGCAGGATGAGGAGCGCAGCA (p.Arg181GlnfsTer?)
c.2222_2223insGCAGGATGAGGAGCGCAGCA (p.Arg742GlnfsTer?)
c.3368_3369insGCAGGATGAGGAGCGCAGCA (p.Arg1124GlnfsTer?)
c.3272_3273insGCAGGATGAGGAGCGCAGCA (p.Arg1092GlnfsTer?)
c.3176_3177insGCAGGATGAGGAGCGCAGCA (p.Arg1060GlnfsTer?)
c.3170_3171insGCAGGATGAGGAGCGCAGCA (p.Arg1058GlnfsTer?)
c.3095_3096insGCAGGATGAGGAGCGCAGCA (p.Arg1033GlnfsTer?)
c.2231_2232insGCAGGATGAGGAGCGCAGCA (p.Arg745GlnfsTer?)
n.3352+133_3352+134insGCAGGATGAGGAGCGCAGCA
n.3348_3349insGCAGGATGAGGAGCGCAGCA
n.3241_3242insGCAGGATGAGGAGCGCAGCA
c.3458_3459insGCAGGATGAGGAGCGCAGCA (p.Arg1154GlnfsTer?)
c.3383_3384insGCAGGATGAGGAGCGCAGCA (p.Arg1129GlnfsTer?)
c.3362_3363insGCAGGATGAGGAGCGCAGCA (p.Arg1122GlnfsTer?)
c.3260_3261insGCAGGATGAGGAGCGCAGCA (p.Arg1088GlnfsTer?)
c.2321_2322insGCAGGATGAGGAGCGCAGCA (p.Arg775GlnfsTer?)
n.3438+133_3438+134insGCAGGATGAGGAGCGCAGCA
n.3434_3435insGCAGGATGAGGAGCGCAGCA
n.3325_3326insGCAGGATGAGGAGCGCAGCA
n.3188_3189insGCAGGATGAGGAGCGCAGCA
n.2990_2991insGCAGGATGAGGAGCGCAGCA
 ClinVar dbSNP
8g.144512011G>ACA372668921RECQL4c.3293C>T (p.Thr1098Ile)
c.310C>T
n.50-222C>T
c.539C>T (p.Thr180Ile)
c.2222C>T (p.Thr741Ile)
c.3368C>T (p.Thr1123Ile)
c.3272C>T (p.Thr1091Ile)
c.3176C>T (p.Thr1059Ile)
c.3170C>T (p.Thr1057Ile)
c.3095C>T (p.Thr1032Ile)
c.2231C>T (p.Thr744Ile)
n.3352+133C>T
n.3348C>T
n.3241C>T
c.3458C>T (p.Thr1153Ile)
c.3383C>T (p.Thr1128Ile)
c.3362C>T (p.Thr1121Ile)
c.3260C>T (p.Thr1087Ile)
c.2321C>T (p.Thr774Ile)
n.3438+133C>T
n.3434C>T
n.3325C>T
n.3188C>T
n.2990C>T
 dbSNP gnomAD v4
8g.144512011G>CCA372668923RECQL4c.3293C>G (p.Thr1098Ser)
c.310C>G
n.50-222C>G
c.539C>G (p.Thr180Ser)
c.2222C>G (p.Thr741Ser)
c.3368C>G (p.Thr1123Ser)
c.3272C>G (p.Thr1091Ser)
c.3176C>G (p.Thr1059Ser)
c.3170C>G (p.Thr1057Ser)
c.3095C>G (p.Thr1032Ser)
c.2231C>G (p.Thr744Ser)
n.3352+133C>G
n.3348C>G
n.3241C>G
c.3458C>G (p.Thr1153Ser)
c.3383C>G (p.Thr1128Ser)
c.3362C>G (p.Thr1121Ser)
c.3260C>G (p.Thr1087Ser)
c.2321C>G (p.Thr774Ser)
n.3438+133C>G
n.3434C>G
n.3325C>G
n.3188C>G
n.2990C>G
 dbSNP gnomAD v2 gnomAD v4
8g.144512011G=CA1826365535RECQL4c.3293C= (p.Thr1098=)
c.310C=
n.50-222C=
c.539C= (p.Thr180=)
c.2222C= (p.Thr741=)
c.3368C= (p.Thr1123=)
c.3272C= (p.Thr1091=)
c.3176C= (p.Thr1059=)
c.3170C= (p.Thr1057=)
c.3095C= (p.Thr1032=)
c.2231C= (p.Thr744=)
n.3352+133C=
n.3348C=
n.3241C=
c.3458C= (p.Thr1153=)
c.3383C= (p.Thr1128=)
c.3362C= (p.Thr1121=)
c.3260C= (p.Thr1087=)
c.2321C= (p.Thr774=)
n.3438+133C=
n.3434C=
n.3325C=
n.3188C=
n.2990C=
8g.144512011G>TCA372668922RECQL4c.3293C>A (p.Thr1098Asn)
c.310C>A
n.50-222C>A
c.539C>A (p.Thr180Asn)
c.2222C>A (p.Thr741Asn)
c.3368C>A (p.Thr1123Asn)
c.3272C>A (p.Thr1091Asn)
c.3176C>A (p.Thr1059Asn)
c.3170C>A (p.Thr1057Asn)
c.3095C>A (p.Thr1032Asn)
c.2231C>A (p.Thr744Asn)
n.3352+133C>A
n.3348C>A
n.3241C>A
c.3458C>A (p.Thr1153Asn)
c.3383C>A (p.Thr1128Asn)
c.3362C>A (p.Thr1121Asn)
c.3260C>A (p.Thr1087Asn)
c.2321C>A (p.Thr774Asn)
n.3438+133C>A
n.3434C>A
n.3325C>A
n.3188C>A
n.2990C>A
8g.144512012T>ACA372668925RECQL4c.3292A>T (p.Thr1098Ser)
c.309A>T
n.50-223A>T
c.538A>T (p.Thr180Ser)
c.2221A>T (p.Thr741Ser)
c.3367A>T (p.Thr1123Ser)
c.3271A>T (p.Thr1091Ser)
c.3175A>T (p.Thr1059Ser)
c.3169A>T (p.Thr1057Ser)
c.3094A>T (p.Thr1032Ser)
c.2230A>T (p.Thr744Ser)
n.3352+132A>T
n.3347A>T
n.3240A>T
c.3457A>T (p.Thr1153Ser)
c.3382A>T (p.Thr1128Ser)
c.3361A>T (p.Thr1121Ser)
c.3259A>T (p.Thr1087Ser)
c.2320A>T (p.Thr774Ser)
n.3438+132A>T
n.3433A>T
n.3324A>T
n.3187A>T
n.2989A>T
8g.144512012T>CCA372668927RECQL4c.3292A>G (p.Thr1098Ala)
c.309A>G
n.50-223A>G
c.538A>G (p.Thr180Ala)
c.2221A>G (p.Thr741Ala)
c.3367A>G (p.Thr1123Ala)
c.3271A>G (p.Thr1091Ala)
c.3175A>G (p.Thr1059Ala)
c.3169A>G (p.Thr1057Ala)
c.3094A>G (p.Thr1032Ala)
c.2230A>G (p.Thr744Ala)
n.3352+132A>G
n.3347A>G
n.3240A>G
c.3457A>G (p.Thr1153Ala)
c.3382A>G (p.Thr1128Ala)
c.3361A>G (p.Thr1121Ala)
c.3259A>G (p.Thr1087Ala)
c.2320A>G (p.Thr774Ala)
n.3438+132A>G
n.3433A>G
n.3324A>G
n.3187A>G
n.2989A>G
 ClinVar dbSNP
8g.144512012T>GCA372668928RECQL4c.3292A>C (p.Thr1098Pro)
c.309A>C
n.50-223A>C
c.538A>C (p.Thr180Pro)
c.2221A>C (p.Thr741Pro)
c.3367A>C (p.Thr1123Pro)
c.3271A>C (p.Thr1091Pro)
c.3175A>C (p.Thr1059Pro)
c.3169A>C (p.Thr1057Pro)
c.3094A>C (p.Thr1032Pro)
c.2230A>C (p.Thr744Pro)
n.3352+132A>C
n.3347A>C
n.3240A>C
c.3457A>C (p.Thr1153Pro)
c.3382A>C (p.Thr1128Pro)
c.3361A>C (p.Thr1121Pro)
c.3259A>C (p.Thr1087Pro)
c.2320A>C (p.Thr774Pro)
n.3438+132A>C
n.3433A>C
n.3324A>C
n.3187A>C
n.2989A>C
8g.144512015_144512017delCA2782587967RECQL4c.3290_3292del (p.Ser1097del)
c.307_309del
n.50-225_50-223del
c.536_538del (p.Ser179del)
c.2219_2221del (p.Ser740del)
c.3365_3367del (p.Ser1122del)
c.3269_3271del (p.Ser1090del)
c.3173_3175del (p.Ser1058del)
c.3167_3169del (p.Ser1056del)
c.3092_3094del (p.Ser1031del)
c.2228_2230del (p.Ser743del)
n.3352+130_3352+132del
n.3345_3347del
n.3238_3240del
c.3455_3457del (p.Ser1152del)
c.3380_3382del (p.Ser1127del)
c.3359_3361del (p.Ser1120del)
c.3257_3259del (p.Ser1086del)
c.2318_2320del (p.Ser773del)
n.3438+130_3438+132del
n.3431_3433del
n.3322_3324del
n.3185_3187del
n.2987_2989del
8g.144512013G>ACA463565937RECQL4c.3291C>T (p.Ser1097=)
c.308C>T
n.50-224C>T
c.537C>T (p.Ser179=)
c.2220C>T (p.Ser740=)
c.3366C>T (p.Ser1122=)
c.3270C>T (p.Ser1090=)
c.3174C>T (p.Ser1058=)
c.3168C>T (p.Ser1056=)
c.3093C>T (p.Ser1031=)
c.2229C>T (p.Ser743=)
n.3352+131C>T
n.3346C>T
n.3239C>T
c.3456C>T (p.Ser1152=)
c.3381C>T (p.Ser1127=)
c.3360C>T (p.Ser1120=)
c.3258C>T (p.Ser1086=)
c.2319C>T (p.Ser773=)
n.3438+131C>T
n.3432C>T
n.3323C>T
n.3186C>T
n.2988C>T
 ClinVar gnomAD v4
8g.144512013G>CCA372668930RECQL4c.3291C>G (p.Ser1097Arg)
c.308C>G
n.50-224C>G
c.537C>G (p.Ser179Arg)
c.2220C>G (p.Ser740Arg)
c.3366C>G (p.Ser1122Arg)
c.3270C>G (p.Ser1090Arg)
c.3174C>G (p.Ser1058Arg)
c.3168C>G (p.Ser1056Arg)
c.3093C>G (p.Ser1031Arg)
c.2229C>G (p.Ser743Arg)
n.3352+131C>G
n.3346C>G
n.3239C>G
c.3456C>G (p.Ser1152Arg)
c.3381C>G (p.Ser1127Arg)
c.3360C>G (p.Ser1120Arg)
c.3258C>G (p.Ser1086Arg)
c.2319C>G (p.Ser773Arg)
n.3438+131C>G
n.3432C>G
n.3323C>G
n.3186C>G
n.2988C>G
 ClinVar dbSNP
8g.144512013G=CA1826365536RECQL4c.3291C= (p.Ser1097=)
c.308C=
n.50-224C=
c.537C= (p.Ser179=)
c.2220C= (p.Ser740=)
c.3366C= (p.Ser1122=)
c.3270C= (p.Ser1090=)
c.3174C= (p.Ser1058=)
c.3168C= (p.Ser1056=)
c.3093C= (p.Ser1031=)
c.2229C= (p.Ser743=)
n.3352+131C=
n.3346C=
n.3239C=
c.3456C= (p.Ser1152=)
c.3381C= (p.Ser1127=)
c.3360C= (p.Ser1120=)
c.3258C= (p.Ser1086=)
c.2319C= (p.Ser773=)
n.3438+131C=
n.3432C=
n.3323C=
n.3186C=
n.2988C=
8g.144512013G>TCA372668932RECQL4c.3291C>A (p.Ser1097Arg)
c.308C>A
n.50-224C>A
c.537C>A (p.Ser179Arg)
c.2220C>A (p.Ser740Arg)
c.3366C>A (p.Ser1122Arg)
c.3270C>A (p.Ser1090Arg)
c.3174C>A (p.Ser1058Arg)
c.3168C>A (p.Ser1056Arg)
c.3093C>A (p.Ser1031Arg)
c.2229C>A (p.Ser743Arg)
n.3352+131C>A
n.3346C>A
n.3239C>A
c.3456C>A (p.Ser1152Arg)
c.3381C>A (p.Ser1127Arg)
c.3360C>A (p.Ser1120Arg)
c.3258C>A (p.Ser1086Arg)
c.2319C>A (p.Ser773Arg)
n.3438+131C>A
n.3432C>A
n.3323C>A
n.3186C>A
n.2988C>A
8g.144512014C>ACA372668934RECQL4c.3290G>T (p.Ser1097Ile)
c.307G>T
n.50-225G>T
c.536G>T (p.Ser179Ile)
c.2219G>T (p.Ser740Ile)
c.3365G>T (p.Ser1122Ile)
c.3269G>T (p.Ser1090Ile)
c.3173G>T (p.Ser1058Ile)
c.3167G>T (p.Ser1056Ile)
c.3092G>T (p.Ser1031Ile)
c.2228G>T (p.Ser743Ile)
n.3352+130G>T
n.3345G>T
n.3238G>T
c.3455G>T (p.Ser1152Ile)
c.3380G>T (p.Ser1127Ile)
c.3359G>T (p.Ser1120Ile)
c.3257G>T (p.Ser1086Ile)
c.2318G>T (p.Ser773Ile)
n.3438+130G>T
n.3431G>T
n.3322G>T
n.3185G>T
n.2987G>T
8g.144512014C=CA1826365537RECQL4c.3290G= (p.Ser1097=)
c.307G=
n.50-225G=
c.536G= (p.Ser179=)
c.2219G= (p.Ser740=)
c.3365G= (p.Ser1122=)
c.3269G= (p.Ser1090=)
c.3173G= (p.Ser1058=)
c.3167G= (p.Ser1056=)
c.3092G= (p.Ser1031=)
c.2228G= (p.Ser743=)
n.3352+130G=
n.3345G=
n.3238G=
c.3455G= (p.Ser1152=)
c.3380G= (p.Ser1127=)
c.3359G= (p.Ser1120=)
c.3257G= (p.Ser1086=)
c.2318G= (p.Ser773=)
n.3438+130G=
n.3431G=
n.3322G=
n.3185G=
n.2987G=
8g.144512014C>GCA372668935RECQL4c.3290G>C (p.Ser1097Thr)
c.307G>C
n.50-225G>C
c.536G>C (p.Ser179Thr)
c.2219G>C (p.Ser740Thr)
c.3365G>C (p.Ser1122Thr)
c.3269G>C (p.Ser1090Thr)
c.3173G>C (p.Ser1058Thr)
c.3167G>C (p.Ser1056Thr)
c.3092G>C (p.Ser1031Thr)
c.2228G>C (p.Ser743Thr)
n.3352+130G>C
n.3345G>C
n.3238G>C
c.3455G>C (p.Ser1152Thr)
c.3380G>C (p.Ser1127Thr)
c.3359G>C (p.Ser1120Thr)
c.3257G>C (p.Ser1086Thr)
c.2318G>C (p.Ser773Thr)
n.3438+130G>C
n.3431G>C
n.3322G>C
n.3185G>C
n.2987G>C
 ClinVar dbSNP
8g.144512014C>TCA372668936RECQL4c.3290G>A (p.Ser1097Asn)
c.307G>A
n.50-225G>A
c.536G>A (p.Ser179Asn)
c.2219G>A (p.Ser740Asn)
c.3365G>A (p.Ser1122Asn)
c.3269G>A (p.Ser1090Asn)
c.3173G>A (p.Ser1058Asn)
c.3167G>A (p.Ser1056Asn)
c.3092G>A (p.Ser1031Asn)
c.2228G>A (p.Ser743Asn)
n.3352+130G>A
n.3345G>A
n.3238G>A
c.3455G>A (p.Ser1152Asn)
c.3380G>A (p.Ser1127Asn)
c.3359G>A (p.Ser1120Asn)
c.3257G>A (p.Ser1086Asn)
c.2318G>A (p.Ser773Asn)
n.3438+130G>A
n.3431G>A
n.3322G>A
n.3185G>A
n.2987G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.144512015T>ACA372668937RECQL4c.3289A>T (p.Ser1097Cys)
c.306A>T
n.50-226A>T
c.535A>T (p.Ser179Cys)
c.2218A>T (p.Ser740Cys)
c.3364A>T (p.Ser1122Cys)
c.3268A>T (p.Ser1090Cys)
c.3172A>T (p.Ser1058Cys)
c.3166A>T (p.Ser1056Cys)
c.3091A>T (p.Ser1031Cys)
c.2227A>T (p.Ser743Cys)
n.3352+129A>T
n.3344A>T
n.3237A>T
c.3454A>T (p.Ser1152Cys)
c.3379A>T (p.Ser1127Cys)
c.3358A>T (p.Ser1120Cys)
c.3256A>T (p.Ser1086Cys)
c.2317A>T (p.Ser773Cys)
n.3438+129A>T
n.3430A>T
n.3321A>T
n.3184A>T
n.2986A>T
 ClinVar
8g.144512015T>CCA4947829RECQL4c.3289A>G (p.Ser1097Gly)
c.306A>G
n.50-226A>G
c.535A>G (p.Ser179Gly)
c.2218A>G (p.Ser740Gly)
c.3364A>G (p.Ser1122Gly)
c.3268A>G (p.Ser1090Gly)
c.3172A>G (p.Ser1058Gly)
c.3166A>G (p.Ser1056Gly)
c.3091A>G (p.Ser1031Gly)
c.2227A>G (p.Ser743Gly)
n.3352+129A>G
n.3344A>G
n.3237A>G
c.3454A>G (p.Ser1152Gly)
c.3379A>G (p.Ser1127Gly)
c.3358A>G (p.Ser1120Gly)
c.3256A>G (p.Ser1086Gly)
c.2317A>G (p.Ser773Gly)
n.3438+129A>G
n.3430A>G
n.3321A>G
n.3184A>G
n.2986A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144512015T>GCA372668941RECQL4c.3289A>C (p.Ser1097Arg)
c.306A>C
n.50-226A>C
c.535A>C (p.Ser179Arg)
c.2218A>C (p.Ser740Arg)
c.3364A>C (p.Ser1122Arg)
c.3268A>C (p.Ser1090Arg)
c.3172A>C (p.Ser1058Arg)
c.3166A>C (p.Ser1056Arg)
c.3091A>C (p.Ser1031Arg)
c.2227A>C (p.Ser743Arg)
n.3352+129A>C
n.3344A>C
n.3237A>C
c.3454A>C (p.Ser1152Arg)
c.3379A>C (p.Ser1127Arg)
c.3358A>C (p.Ser1120Arg)
c.3256A>C (p.Ser1086Arg)
c.2317A>C (p.Ser773Arg)
n.3438+129A>C
n.3430A>C
n.3321A>C
n.3184A>C
n.2986A>C
8g.144512015T=CA1826365538RECQL4c.3289A= (p.Ser1097=)
c.306A=
n.50-226A=
c.535A= (p.Ser179=)
c.2218A= (p.Ser740=)
c.3364A= (p.Ser1122=)
c.3268A= (p.Ser1090=)
c.3172A= (p.Ser1058=)
c.3166A= (p.Ser1056=)
c.3091A= (p.Ser1031=)
c.2227A= (p.Ser743=)
n.3352+129A=
n.3344A=
n.3237A=
c.3454A= (p.Ser1152=)
c.3379A= (p.Ser1127=)
c.3358A= (p.Ser1120=)
c.3256A= (p.Ser1086=)
c.2317A= (p.Ser773=)
n.3438+129A=
n.3430A=
n.3321A=
n.3184A=
n.2986A=
8g.144512015dupCA2580078790RECQL4c.3289dup (p.Ser1097LysfsTer13)
c.306dup
n.50-226dup
c.535dup (p.Ser179LysfsTer13)
c.2218dup (p.Ser740LysfsTer13)
c.3364dup (p.Ser1122LysfsTer13)
c.3268dup (p.Ser1090LysfsTer13)
c.3172dup (p.Ser1058LysfsTer13)
c.3166dup (p.Ser1056LysfsTer13)
c.3091dup (p.Ser1031LysfsTer13)
c.2227dup (p.Ser743LysfsTer13)
n.3352+129dup
n.3344dup
n.3237dup
c.3454dup (p.Ser1152LysfsTer13)
c.3379dup (p.Ser1127LysfsTer13)
c.3358dup (p.Ser1120LysfsTer13)
c.3256dup (p.Ser1086LysfsTer13)
c.2317dup (p.Ser773LysfsTer13)
n.3438+129dup
n.3430dup
n.3321dup
n.3184dup
n.2986dup
 ClinVar gnomAD v4
8g.144512016G>ACA463565948RECQL4c.3288C>T (p.Arg1096=)
c.305C>T
n.50-227C>T
c.534C>T (p.Arg178=)
c.2217C>T (p.Arg739=)
c.3363C>T (p.Arg1121=)
c.3267C>T (p.Arg1089=)
c.3171C>T (p.Arg1057=)
c.3165C>T (p.Arg1055=)
c.3090C>T (p.Arg1030=)
c.2226C>T (p.Arg742=)
n.3352+128C>T
n.3343C>T
n.3236C>T
c.3453C>T (p.Arg1151=)
c.3378C>T (p.Arg1126=)
c.3357C>T (p.Arg1119=)
c.3255C>T (p.Arg1085=)
c.2316C>T (p.Arg772=)
n.3438+128C>T
n.3429C>T
n.3320C>T
n.3183C>T
n.2985C>T
 ClinVar
8g.144512016G>CCA463565945RECQL4c.3288C>G (p.Arg1096=)
c.305C>G
n.50-227C>G
c.534C>G (p.Arg178=)
c.2217C>G (p.Arg739=)
c.3363C>G (p.Arg1121=)
c.3267C>G (p.Arg1089=)
c.3171C>G (p.Arg1057=)
c.3165C>G (p.Arg1055=)
c.3090C>G (p.Arg1030=)
c.2226C>G (p.Arg742=)
n.3352+128C>G
n.3343C>G
n.3236C>G
c.3453C>G (p.Arg1151=)
c.3378C>G (p.Arg1126=)
c.3357C>G (p.Arg1119=)
c.3255C>G (p.Arg1085=)
c.2316C>G (p.Arg772=)
n.3438+128C>G
n.3429C>G
n.3320C>G
n.3183C>G
n.2985C>G
8g.144512016G=CA1826365539RECQL4c.3288C= (p.Arg1096=)
c.305C=
n.50-227C=
c.534C= (p.Arg178=)
c.2217C= (p.Arg739=)
c.3363C= (p.Arg1121=)
c.3267C= (p.Arg1089=)
c.3171C= (p.Arg1057=)
c.3165C= (p.Arg1055=)
c.3090C= (p.Arg1030=)
c.2226C= (p.Arg742=)
n.3352+128C=
n.3343C=
n.3236C=
c.3453C= (p.Arg1151=)
c.3378C= (p.Arg1126=)
c.3357C= (p.Arg1119=)
c.3255C= (p.Arg1085=)
c.2316C= (p.Arg772=)
n.3438+128C=
n.3429C=
n.3320C=
n.3183C=
n.2985C=
8g.144512016G>TCA463565943RECQL4c.3288C>A (p.Arg1096=)
c.305C>A
n.50-227C>A
c.534C>A (p.Arg178=)
c.2217C>A (p.Arg739=)
c.3363C>A (p.Arg1121=)
c.3267C>A (p.Arg1089=)
c.3171C>A (p.Arg1057=)
c.3165C>A (p.Arg1055=)
c.3090C>A (p.Arg1030=)
c.2226C>A (p.Arg742=)
n.3352+128C>A
n.3343C>A
n.3236C>A
c.3453C>A (p.Arg1151=)
c.3378C>A (p.Arg1126=)
c.3357C>A (p.Arg1119=)
c.3255C>A (p.Arg1085=)
c.2316C>A (p.Arg772=)
n.3438+128C>A
n.3429C>A
n.3320C>A
n.3183C>A
n.2985C>A
 gnomAD v4
8g.144512017C>ACA372668954RECQL4c.3287G>T (p.Arg1096Leu)
c.304G>T
n.50-228G>T
c.533G>T (p.Arg178Leu)
c.2216G>T (p.Arg739Leu)
c.3362G>T (p.Arg1121Leu)
c.3266G>T (p.Arg1089Leu)
c.3170G>T (p.Arg1057Leu)
c.3164G>T (p.Arg1055Leu)
c.3089G>T (p.Arg1030Leu)
c.2225G>T (p.Arg742Leu)
n.3352+127G>T
n.3342G>T
n.3235G>T
c.3452G>T (p.Arg1151Leu)
c.3377G>T (p.Arg1126Leu)
c.3356G>T (p.Arg1119Leu)
c.3254G>T (p.Arg1085Leu)
c.2315G>T (p.Arg772Leu)
n.3438+127G>T
n.3428G>T
n.3319G>T
n.3182G>T
n.2984G>T
 ClinVar dbSNP gnomAD v4
8g.144512017C=CA1826365540RECQL4c.3287G= (p.Arg1096=)
c.304G=
n.50-228G=
c.533G= (p.Arg178=)
c.2216G= (p.Arg739=)
c.3362G= (p.Arg1121=)
c.3266G= (p.Arg1089=)
c.3170G= (p.Arg1057=)
c.3164G= (p.Arg1055=)
c.3089G= (p.Arg1030=)
c.2225G= (p.Arg742=)
n.3352+127G=
n.3342G=
n.3235G=
c.3452G= (p.Arg1151=)
c.3377G= (p.Arg1126=)
c.3356G= (p.Arg1119=)
c.3254G= (p.Arg1085=)
c.2315G= (p.Arg772=)
n.3438+127G=
n.3428G=
n.3319G=
n.3182G=
n.2984G=
8g.144512017C>GCA372668955RECQL4c.3287G>C (p.Arg1096Pro)
c.304G>C
n.50-228G>C
c.533G>C (p.Arg178Pro)
c.2216G>C (p.Arg739Pro)
c.3362G>C (p.Arg1121Pro)
c.3266G>C (p.Arg1089Pro)
c.3170G>C (p.Arg1057Pro)
c.3164G>C (p.Arg1055Pro)
c.3089G>C (p.Arg1030Pro)
c.2225G>C (p.Arg742Pro)
n.3352+127G>C
n.3342G>C
n.3235G>C
c.3452G>C (p.Arg1151Pro)
c.3377G>C (p.Arg1126Pro)
c.3356G>C (p.Arg1119Pro)
c.3254G>C (p.Arg1085Pro)
c.2315G>C (p.Arg772Pro)
n.3438+127G>C
n.3428G>C
n.3319G>C
n.3182G>C
n.2984G>C
 dbSNP gnomAD v2 gnomAD v4
8g.144512017C>TCA4947830RECQL4c.3287G>A (p.Arg1096His)
c.304G>A
n.50-228G>A
c.533G>A (p.Arg178His)
c.2216G>A (p.Arg739His)
c.3362G>A (p.Arg1121His)
c.3266G>A (p.Arg1089His)
c.3170G>A (p.Arg1057His)
c.3164G>A (p.Arg1055His)
c.3089G>A (p.Arg1030His)
c.2225G>A (p.Arg742His)
n.3352+127G>A
n.3342G>A
n.3235G>A
c.3452G>A (p.Arg1151His)
c.3377G>A (p.Arg1126His)
c.3356G>A (p.Arg1119His)
c.3254G>A (p.Arg1085His)
c.2315G>A (p.Arg772His)
n.3438+127G>A
n.3428G>A
n.3319G>A
n.3182G>A
n.2984G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.144512018_144512021dupCA1826365541RECQL4c.3284_3287dup (p.Ser1097AlafsTer14)
c.301_304dup
n.50-231_50-228dup
c.530_533dup (p.Ser179AlafsTer14)
c.2213_2216dup (p.Ser740AlafsTer14)
c.3359_3362dup (p.Ser1122AlafsTer14)
c.3263_3266dup (p.Ser1090AlafsTer14)
c.3167_3170dup (p.Ser1058AlafsTer14)
c.3161_3164dup (p.Ser1056AlafsTer14)
c.3086_3089dup (p.Ser1031AlafsTer14)
c.2222_2225dup (p.Ser743AlafsTer14)
n.3352+124_3352+127dup
n.3339_3342dup
n.3232_3235dup
c.3449_3452dup (p.Ser1152AlafsTer14)
c.3374_3377dup (p.Ser1127AlafsTer14)
c.3353_3356dup (p.Ser1120AlafsTer14)
c.3251_3254dup (p.Ser1086AlafsTer14)
c.2312_2315dup (p.Ser773AlafsTer14)
n.3438+124_3438+127dup
n.3425_3428dup
n.3316_3319dup
n.3179_3182dup
n.2981_2984dup
 ClinVar dbSNP gnomAD v4
8g.144512018G>ACA187679154RECQL4c.3286C>T (p.Arg1096Cys)
c.303C>T
n.50-229C>T
c.532C>T (p.Arg178Cys)
c.2215C>T (p.Arg739Cys)
c.3361C>T (p.Arg1121Cys)
c.3265C>T (p.Arg1089Cys)
c.3169C>T (p.Arg1057Cys)
c.3163C>T (p.Arg1055Cys)
c.3088C>T (p.Arg1030Cys)
c.2224C>T (p.Arg742Cys)
n.3352+126C>T
n.3341C>T
n.3234C>T
c.3451C>T (p.Arg1151Cys)
c.3376C>T (p.Arg1126Cys)
c.3355C>T (p.Arg1119Cys)
c.3253C>T (p.Arg1085Cys)
c.2314C>T (p.Arg772Cys)
n.3438+126C>T
n.3427C>T
n.3318C>T
n.3181C>T
n.2983C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144512018G>CCA372668958RECQL4c.3286C>G (p.Arg1096Gly)
c.303C>G
n.50-229C>G
c.532C>G (p.Arg178Gly)
c.2215C>G (p.Arg739Gly)
c.3361C>G (p.Arg1121Gly)
c.3265C>G (p.Arg1089Gly)
c.3169C>G (p.Arg1057Gly)
c.3163C>G (p.Arg1055Gly)
c.3088C>G (p.Arg1030Gly)
c.2224C>G (p.Arg742Gly)
n.3352+126C>G
n.3341C>G
n.3234C>G
c.3451C>G (p.Arg1151Gly)
c.3376C>G (p.Arg1126Gly)
c.3355C>G (p.Arg1119Gly)
c.3253C>G (p.Arg1085Gly)
c.2314C>G (p.Arg772Gly)
n.3438+126C>G
n.3427C>G
n.3318C>G
n.3181C>G
n.2983C>G
8g.144512018G=CA1826365542RECQL4c.3286C= (p.Arg1096=)
c.303C=
n.50-229C=
c.532C= (p.Arg178=)
c.2215C= (p.Arg739=)
c.3361C= (p.Arg1121=)
c.3265C= (p.Arg1089=)
c.3169C= (p.Arg1057=)
c.3163C= (p.Arg1055=)
c.3088C= (p.Arg1030=)
c.2224C= (p.Arg742=)
n.3352+126C=
n.3341C=
n.3234C=
c.3451C= (p.Arg1151=)
c.3376C= (p.Arg1126=)
c.3355C= (p.Arg1119=)
c.3253C= (p.Arg1085=)
c.2314C= (p.Arg772=)
n.3438+126C=
n.3427C=
n.3318C=
n.3181C=
n.2983C=
8g.144512018G>TCA372668959RECQL4c.3286C>A (p.Arg1096Ser)
c.303C>A
n.50-229C>A
c.532C>A (p.Arg178Ser)
c.2215C>A (p.Arg739Ser)
c.3361C>A (p.Arg1121Ser)
c.3265C>A (p.Arg1089Ser)
c.3169C>A (p.Arg1057Ser)
c.3163C>A (p.Arg1055Ser)
c.3088C>A (p.Arg1030Ser)
c.2224C>A (p.Arg742Ser)
n.3352+126C>A
n.3341C>A
n.3234C>A
c.3451C>A (p.Arg1151Ser)
c.3376C>A (p.Arg1126Ser)
c.3355C>A (p.Arg1119Ser)
c.3253C>A (p.Arg1085Ser)
c.2314C>A (p.Arg772Ser)
n.3438+126C>A
n.3427C>A
n.3318C>A
n.3181C>A
n.2983C>A
 gnomAD v4
8g.144512018_144512021delinsGCTCCA1826365543RECQL4c.3283_3286delinsGAGC (p.Glu1095=)
c.300_303delinsGAGC
n.50-232_50-229delinsGAGC
c.529_532delinsGAGC (p.Glu177=)
c.2212_2215delinsGAGC (p.Glu738=)
c.3358_3361delinsGAGC (p.Glu1120=)
c.3262_3265delinsGAGC (p.Glu1088=)
c.3166_3169delinsGAGC (p.Glu1056=)
c.3160_3163delinsGAGC (p.Glu1054=)
c.3085_3088delinsGAGC (p.Glu1029=)
c.2221_2224delinsGAGC (p.Glu741=)
n.3352+123_3352+126delinsGAGC
n.3338_3341delinsGAGC
n.3231_3234delinsGAGC
c.3448_3451delinsGAGC (p.Glu1150=)
c.3373_3376delinsGAGC (p.Glu1125=)
c.3352_3355delinsGAGC (p.Glu1118=)
c.3250_3253delinsGAGC (p.Glu1084=)
c.2311_2314delinsGAGC (p.Glu771=)
n.3438+123_3438+126delinsGAGC
n.3424_3427delinsGAGC
n.3315_3318delinsGAGC
n.3178_3181delinsGAGC
n.2980_2983delinsGAGC
8g.144512019C>ACA372668961RECQL4c.3285G>T (p.Glu1095Asp)
c.302G>T
n.50-230G>T
c.531G>T (p.Glu177Asp)
c.2214G>T (p.Glu738Asp)
c.3360G>T (p.Glu1120Asp)
c.3264G>T (p.Glu1088Asp)
c.3168G>T (p.Glu1056Asp)
c.3162G>T (p.Glu1054Asp)
c.3087G>T (p.Glu1029Asp)
c.2223G>T (p.Glu741Asp)
n.3352+125G>T
n.3340G>T
n.3233G>T
c.3450G>T (p.Glu1150Asp)
c.3375G>T (p.Glu1125Asp)
c.3354G>T (p.Glu1118Asp)
c.3252G>T (p.Glu1084Asp)
c.2313G>T (p.Glu771Asp)
n.3438+125G>T
n.3426G>T
n.3317G>T
n.3180G>T
n.2982G>T
 ClinVar dbSNP gnomAD v4
8g.144512019C>GCA372668962RECQL4c.3285G>C (p.Glu1095Asp)
c.302G>C
n.50-230G>C
c.531G>C (p.Glu177Asp)
c.2214G>C (p.Glu738Asp)
c.3360G>C (p.Glu1120Asp)
c.3264G>C (p.Glu1088Asp)
c.3168G>C (p.Glu1056Asp)
c.3162G>C (p.Glu1054Asp)
c.3087G>C (p.Glu1029Asp)
c.2223G>C (p.Glu741Asp)
n.3352+125G>C
n.3340G>C
n.3233G>C
c.3450G>C (p.Glu1150Asp)
c.3375G>C (p.Glu1125Asp)
c.3354G>C (p.Glu1118Asp)
c.3252G>C (p.Glu1084Asp)
c.2313G>C (p.Glu771Asp)
n.3438+125G>C
n.3426G>C
n.3317G>C
n.3180G>C
n.2982G>C
8g.144512019C>TCA463565952RECQL4c.3285G>A (p.Glu1095=)
c.302G>A
n.50-230G>A
c.531G>A (p.Glu177=)
c.2214G>A (p.Glu738=)
c.3360G>A (p.Glu1120=)
c.3264G>A (p.Glu1088=)
c.3168G>A (p.Glu1056=)
c.3162G>A (p.Glu1054=)
c.3087G>A (p.Glu1029=)
c.2223G>A (p.Glu741=)
n.3352+125G>A
n.3340G>A
n.3233G>A
c.3450G>A (p.Glu1150=)
c.3375G>A (p.Glu1125=)
c.3354G>A (p.Glu1118=)
c.3252G>A (p.Glu1084=)
c.2313G>A (p.Glu771=)
n.3438+125G>A
n.3426G>A
n.3317G>A
n.3180G>A
n.2982G>A
8g.144512022_144512024delCA463565954RECQL4c.3283_3285del (p.Glu1095del)
c.300_302del
n.50-232_50-230del
c.529_531del (p.Glu177del)
c.2212_2214del (p.Glu738del)
c.3358_3360del (p.Glu1120del)
c.3262_3264del (p.Glu1088del)
c.3166_3168del (p.Glu1056del)
c.3160_3162del (p.Glu1054del)
c.3085_3087del (p.Glu1029del)
c.2221_2223del (p.Glu741del)
n.3352+123_3352+125del
n.3338_3340del
n.3231_3233del
c.3448_3450del (p.Glu1150del)
c.3373_3375del (p.Glu1125del)
c.3352_3354del (p.Glu1118del)
c.3250_3252del (p.Glu1084del)
c.2311_2313del (p.Glu771del)
n.3438+123_3438+125del
n.3424_3426del
n.3315_3317del
n.3178_3180del
n.2980_2982del
 ClinVar dbSNP
8g.144512020T>ACA372668963RECQL4c.3284A>T (p.Glu1095Val)
c.301A>T
n.50-231A>T
c.530A>T (p.Glu177Val)
c.2213A>T (p.Glu738Val)
c.3359A>T (p.Glu1120Val)
c.3263A>T (p.Glu1088Val)
c.3167A>T (p.Glu1056Val)
c.3161A>T (p.Glu1054Val)
c.3086A>T (p.Glu1029Val)
c.2222A>T (p.Glu741Val)
n.3352+124A>T
n.3339A>T
n.3232A>T
c.3449A>T (p.Glu1150Val)
c.3374A>T (p.Glu1125Val)
c.3353A>T (p.Glu1118Val)
c.3251A>T (p.Glu1084Val)
c.2312A>T (p.Glu771Val)
n.3438+124A>T
n.3425A>T
n.3316A>T
n.3179A>T
n.2981A>T
 dbSNP
8g.144512020T>CCA372668964RECQL4c.3284A>G (p.Glu1095Gly)
c.301A>G
n.50-231A>G
c.530A>G (p.Glu177Gly)
c.2213A>G (p.Glu738Gly)
c.3359A>G (p.Glu1120Gly)
c.3263A>G (p.Glu1088Gly)
c.3167A>G (p.Glu1056Gly)
c.3161A>G (p.Glu1054Gly)
c.3086A>G (p.Glu1029Gly)
c.2222A>G (p.Glu741Gly)
n.3352+124A>G
n.3339A>G
n.3232A>G
c.3449A>G (p.Glu1150Gly)
c.3374A>G (p.Glu1125Gly)
c.3353A>G (p.Glu1118Gly)
c.3251A>G (p.Glu1084Gly)
c.2312A>G (p.Glu771Gly)
n.3438+124A>G
n.3425A>G
n.3316A>G
n.3179A>G
n.2981A>G
 ClinVar dbSNP
8g.144512020T>GCA372668967RECQL4c.3284A>C (p.Glu1095Ala)
c.301A>C
n.50-231A>C
c.530A>C (p.Glu177Ala)
c.2213A>C (p.Glu738Ala)
c.3359A>C (p.Glu1120Ala)
c.3263A>C (p.Glu1088Ala)
c.3167A>C (p.Glu1056Ala)
c.3161A>C (p.Glu1054Ala)
c.3086A>C (p.Glu1029Ala)
c.2222A>C (p.Glu741Ala)
n.3352+124A>C
n.3339A>C
n.3232A>C
c.3449A>C (p.Glu1150Ala)
c.3374A>C (p.Glu1125Ala)
c.3353A>C (p.Glu1118Ala)
c.3251A>C (p.Glu1084Ala)
c.2312A>C (p.Glu771Ala)
n.3438+124A>C
n.3425A>C
n.3316A>C
n.3179A>C
n.2981A>C
8g.144512021C>ACA372668970RECQL4c.3283G>T (p.Glu1095Ter)
c.300G>T
n.50-232G>T
c.529G>T (p.Glu177Ter)
c.2212G>T (p.Glu738Ter)
c.3358G>T (p.Glu1120Ter)
c.3262G>T (p.Glu1088Ter)
c.3166G>T (p.Glu1056Ter)
c.3160G>T (p.Glu1054Ter)
c.3085G>T (p.Glu1029Ter)
c.2221G>T (p.Glu741Ter)
n.3352+123G>T
n.3338G>T
n.3231G>T
c.3448G>T (p.Glu1150Ter)
c.3373G>T (p.Glu1125Ter)
c.3352G>T (p.Glu1118Ter)
c.3250G>T (p.Glu1084Ter)
c.2311G>T (p.Glu771Ter)
n.3438+123G>T
n.3424G>T
n.3315G>T
n.3178G>T
n.2980G>T
8g.144512021C=CA1826365544RECQL4c.3283G= (p.Glu1095=)
c.300G=
n.50-232G=
c.529G= (p.Glu177=)
c.2212G= (p.Glu738=)
c.3358G= (p.Glu1120=)
c.3262G= (p.Glu1088=)
c.3166G= (p.Glu1056=)
c.3160G= (p.Glu1054=)
c.3085G= (p.Glu1029=)
c.2221G= (p.Glu741=)
n.3352+123G=
n.3338G=
n.3231G=
c.3448G= (p.Glu1150=)
c.3373G= (p.Glu1125=)
c.3352G= (p.Glu1118=)
c.3250G= (p.Glu1084=)
c.2311G= (p.Glu771=)
n.3438+123G=
n.3424G=
n.3315G=
n.3178G=
n.2980G=
8g.144512021C>GCA372668972RECQL4c.3283G>C (p.Glu1095Gln)
c.300G>C
n.50-232G>C
c.529G>C (p.Glu177Gln)
c.2212G>C (p.Glu738Gln)
c.3358G>C (p.Glu1120Gln)
c.3262G>C (p.Glu1088Gln)
c.3166G>C (p.Glu1056Gln)
c.3160G>C (p.Glu1054Gln)
c.3085G>C (p.Glu1029Gln)
c.2221G>C (p.Glu741Gln)
n.3352+123G>C
n.3338G>C
n.3231G>C
c.3448G>C (p.Glu1150Gln)
c.3373G>C (p.Glu1125Gln)
c.3352G>C (p.Glu1118Gln)
c.3250G>C (p.Glu1084Gln)
c.2311G>C (p.Glu771Gln)
n.3438+123G>C
n.3424G>C
n.3315G>C
n.3178G>C
n.2980G>C
 gnomAD v4
8g.144512021C>TCA187679157RECQL4c.3283G>A (p.Glu1095Lys)
c.300G>A
n.50-232G>A
c.529G>A (p.Glu177Lys)
c.2212G>A (p.Glu738Lys)
c.3358G>A (p.Glu1120Lys)
c.3262G>A (p.Glu1088Lys)
c.3166G>A (p.Glu1056Lys)
c.3160G>A (p.Glu1054Lys)
c.3085G>A (p.Glu1029Lys)
c.2221G>A (p.Glu741Lys)
n.3352+123G>A
n.3338G>A
n.3231G>A
c.3448G>A (p.Glu1150Lys)
c.3373G>A (p.Glu1125Lys)
c.3352G>A (p.Glu1118Lys)
c.3250G>A (p.Glu1084Lys)
c.2311G>A (p.Glu771Lys)
n.3438+123G>A
n.3424G>A
n.3315G>A
n.3178G>A
n.2980G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.144512021delinsGGCA2695210428RECQL4c.3283delinsCC (p.Glu1095ProfsTer15)
c.300delinsCC
n.50-232delinsCC
c.529delinsCC (p.Glu177ProfsTer15)
c.2212delinsCC (p.Glu738ProfsTer15)
c.3358delinsCC (p.Glu1120ProfsTer15)
c.3262delinsCC (p.Glu1088ProfsTer15)
c.3166delinsCC (p.Glu1056ProfsTer15)
c.3160delinsCC (p.Glu1054ProfsTer15)
c.3085delinsCC (p.Glu1029ProfsTer15)
c.2221delinsCC (p.Glu741ProfsTer15)
n.3352+123delinsCC
n.3338delinsCC
n.3231delinsCC
c.3448delinsCC (p.Glu1150ProfsTer15)
c.3373delinsCC (p.Glu1125ProfsTer15)
c.3352delinsCC (p.Glu1118ProfsTer15)
c.3250delinsCC (p.Glu1084ProfsTer15)
c.2311delinsCC (p.Glu771ProfsTer15)
n.3438+123delinsCC
n.3424delinsCC
n.3315delinsCC
n.3178delinsCC
n.2980delinsCC
8g.144512022C>ACA372668974RECQL4c.3282G>T (p.Glu1094Asp)
c.299G>T
n.50-233G>T
c.528G>T (p.Glu176Asp)
c.2211G>T (p.Glu737Asp)
c.3357G>T (p.Glu1119Asp)
c.3261G>T (p.Glu1087Asp)
c.3165G>T (p.Glu1055Asp)
c.3159G>T (p.Glu1053Asp)
c.3084G>T (p.Glu1028Asp)
c.2220G>T (p.Glu740Asp)
n.3352+122G>T
n.3337G>T
n.3230G>T
c.3447G>T (p.Glu1149Asp)
c.3372G>T (p.Glu1124Asp)
c.3351G>T (p.Glu1117Asp)
c.3249G>T (p.Glu1083Asp)
c.2310G>T (p.Glu770Asp)
n.3438+122G>T
n.3423G>T
n.3314G>T
n.3177G>T
n.2979G>T
 dbSNP COSMIC
8g.144512022C=CA1826365545RECQL4c.3282G= (p.Glu1094=)
c.299G=
n.50-233G=
c.528G= (p.Glu176=)
c.2211G= (p.Glu737=)
c.3357G= (p.Glu1119=)
c.3261G= (p.Glu1087=)
c.3165G= (p.Glu1055=)
c.3159G= (p.Glu1053=)
c.3084G= (p.Glu1028=)
c.2220G= (p.Glu740=)
n.3352+122G=
n.3337G=
n.3230G=
c.3447G= (p.Glu1149=)
c.3372G= (p.Glu1124=)
c.3351G= (p.Glu1117=)
c.3249G= (p.Glu1083=)
c.2310G= (p.Glu770=)
n.3438+122G=
n.3423G=
n.3314G=
n.3177G=
n.2979G=
8g.144512022C>GCA372668977RECQL4c.3282G>C (p.Glu1094Asp)
c.299G>C
n.50-233G>C
c.528G>C (p.Glu176Asp)
c.2211G>C (p.Glu737Asp)
c.3357G>C (p.Glu1119Asp)
c.3261G>C (p.Glu1087Asp)
c.3165G>C (p.Glu1055Asp)
c.3159G>C (p.Glu1053Asp)
c.3084G>C (p.Glu1028Asp)
c.2220G>C (p.Glu740Asp)
n.3352+122G>C
n.3337G>C
n.3230G>C
c.3447G>C (p.Glu1149Asp)
c.3372G>C (p.Glu1124Asp)
c.3351G>C (p.Glu1117Asp)
c.3249G>C (p.Glu1083Asp)
c.2310G>C (p.Glu770Asp)
n.3438+122G>C
n.3423G>C
n.3314G>C
n.3177G>C
n.2979G>C
 gnomAD v4
8g.144512022C>TCA4947831RECQL4c.3282G>A (p.Glu1094=)
c.299G>A
n.50-233G>A
c.528G>A (p.Glu176=)
c.2211G>A (p.Glu737=)
c.3357G>A (p.Glu1119=)
c.3261G>A (p.Glu1087=)
c.3165G>A (p.Glu1055=)
c.3159G>A (p.Glu1053=)
c.3084G>A (p.Glu1028=)
c.2220G>A (p.Glu740=)
n.3352+122G>A
n.3337G>A
n.3230G>A
c.3447G>A (p.Glu1149=)
c.3372G>A (p.Glu1124=)
c.3351G>A (p.Glu1117=)
c.3249G>A (p.Glu1083=)
c.2310G>A (p.Glu770=)
n.3438+122G>A
n.3423G>A
n.3314G>A
n.3177G>A
n.2979G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.144512023T>ACA372668985RECQL4c.3281A>T (p.Glu1094Val)
c.298A>T
n.50-234A>T
c.527A>T (p.Glu176Val)
c.2210A>T (p.Glu737Val)
c.3356A>T (p.Glu1119Val)
c.3260A>T (p.Glu1087Val)
c.3164A>T (p.Glu1055Val)
c.3158A>T (p.Glu1053Val)
c.3083A>T (p.Glu1028Val)
c.2219A>T (p.Glu740Val)
n.3352+121A>T
n.3336A>T
n.3229A>T
c.3446A>T (p.Glu1149Val)
c.3371A>T (p.Glu1124Val)
c.3350A>T (p.Glu1117Val)
c.3248A>T (p.Glu1083Val)
c.2309A>T (p.Glu770Val)
n.3438+121A>T
n.3422A>T
n.3313A>T
n.3176A>T
n.2978A>T
8g.144512023T>CCA372668984RECQL4c.3281A>G (p.Glu1094Gly)
c.298A>G
n.50-234A>G
c.527A>G (p.Glu176Gly)
c.2210A>G (p.Glu737Gly)
c.3356A>G (p.Glu1119Gly)
c.3260A>G (p.Glu1087Gly)
c.3164A>G (p.Glu1055Gly)
c.3158A>G (p.Glu1053Gly)
c.3083A>G (p.Glu1028Gly)
c.2219A>G (p.Glu740Gly)
n.3352+121A>G
n.3336A>G
n.3229A>G
c.3446A>G (p.Glu1149Gly)
c.3371A>G (p.Glu1124Gly)
c.3350A>G (p.Glu1117Gly)
c.3248A>G (p.Glu1083Gly)
c.2309A>G (p.Glu770Gly)
n.3438+121A>G
n.3422A>G
n.3313A>G
n.3176A>G
n.2978A>G
 dbSNP gnomAD v4
8g.144512023T>GCA372668982RECQL4c.3281A>C (p.Glu1094Ala)
c.298A>C
n.50-234A>C
c.527A>C (p.Glu176Ala)
c.2210A>C (p.Glu737Ala)
c.3356A>C (p.Glu1119Ala)
c.3260A>C (p.Glu1087Ala)
c.3164A>C (p.Glu1055Ala)
c.3158A>C (p.Glu1053Ala)
c.3083A>C (p.Glu1028Ala)
c.2219A>C (p.Glu740Ala)
n.3352+121A>C
n.3336A>C
n.3229A>C
c.3446A>C (p.Glu1149Ala)
c.3371A>C (p.Glu1124Ala)
c.3350A>C (p.Glu1117Ala)
c.3248A>C (p.Glu1083Ala)
c.2309A>C (p.Glu770Ala)
n.3438+121A>C
n.3422A>C
n.3313A>C
n.3176A>C
n.2978A>C
 COSMIC
8g.144512024C>ACA372669003RECQL4c.3280G>T (p.Glu1094Ter)
c.297G>T
n.50-235G>T
c.526G>T (p.Glu176Ter)
c.2209G>T (p.Glu737Ter)
c.3355G>T (p.Glu1119Ter)
c.3259G>T (p.Glu1087Ter)
c.3163G>T (p.Glu1055Ter)
c.3157G>T (p.Glu1053Ter)
c.3082G>T (p.Glu1028Ter)
c.2218G>T (p.Glu740Ter)
n.3352+120G>T
n.3335G>T
n.3228G>T
c.3445G>T (p.Glu1149Ter)
c.3370G>T (p.Glu1124Ter)
c.3349G>T (p.Glu1117Ter)
c.3247G>T (p.Glu1083Ter)
c.2308G>T (p.Glu770Ter)
n.3438+120G>T
n.3421G>T
n.3312G>T
n.3175G>T
n.2977G>T
 ClinVar dbSNP
8g.144512024C=CA1826365546RECQL4c.3280G= (p.Glu1094=)
c.297G=
n.50-235G=
c.526G= (p.Glu176=)
c.2209G= (p.Glu737=)
c.3355G= (p.Glu1119=)
c.3259G= (p.Glu1087=)
c.3163G= (p.Glu1055=)
c.3157G= (p.Glu1053=)
c.3082G= (p.Glu1028=)
c.2218G= (p.Glu740=)
n.3352+120G=
n.3335G=
n.3228G=
c.3445G= (p.Glu1149=)
c.3370G= (p.Glu1124=)
c.3349G= (p.Glu1117=)
c.3247G= (p.Glu1083=)
c.2308G= (p.Glu770=)
n.3438+120G=
n.3421G=
n.3312G=
n.3175G=
n.2977G=
8g.144512024C>GCA372669005RECQL4c.3280G>C (p.Glu1094Gln)
c.297G>C
n.50-235G>C
c.526G>C (p.Glu176Gln)
c.2209G>C (p.Glu737Gln)
c.3355G>C (p.Glu1119Gln)
c.3259G>C (p.Glu1087Gln)
c.3163G>C (p.Glu1055Gln)
c.3157G>C (p.Glu1053Gln)
c.3082G>C (p.Glu1028Gln)
c.2218G>C (p.Glu740Gln)
n.3352+120G>C
n.3335G>C
n.3228G>C
c.3445G>C (p.Glu1149Gln)
c.3370G>C (p.Glu1124Gln)
c.3349G>C (p.Glu1117Gln)
c.3247G>C (p.Glu1083Gln)
c.2308G>C (p.Glu770Gln)
n.3438+120G>C
n.3421G>C
n.3312G>C
n.3175G>C
n.2977G>C
 gnomAD v4
8g.144512024C>TCA372669006RECQL4c.3280G>A (p.Glu1094Lys)
c.297G>A
n.50-235G>A
c.526G>A (p.Glu176Lys)
c.2209G>A (p.Glu737Lys)
c.3355G>A (p.Glu1119Lys)
c.3259G>A (p.Glu1087Lys)
c.3163G>A (p.Glu1055Lys)
c.3157G>A (p.Glu1053Lys)
c.3082G>A (p.Glu1028Lys)
c.2218G>A (p.Glu740Lys)
n.3352+120G>A
n.3335G>A
n.3228G>A
c.3445G>A (p.Glu1149Lys)
c.3370G>A (p.Glu1124Lys)
c.3349G>A (p.Glu1117Lys)
c.3247G>A (p.Glu1083Lys)
c.2308G>A (p.Glu770Lys)
n.3438+120G>A
n.3421G>A
n.3312G>A
n.3175G>A
n.2977G>A
 gnomAD v4
8g.144512025A=CA1826365547RECQL4c.3279T= (p.Asp1093=)
c.296T=
n.50-236T=
c.525T= (p.Asp175=)
c.2208T= (p.Asp736=)
c.3354T= (p.Asp1118=)
c.3258T= (p.Asp1086=)
c.3162T= (p.Asp1054=)
c.3156T= (p.Asp1052=)
c.3081T= (p.Asp1027=)
c.2217T= (p.Asp739=)
n.3352+119T=
n.3334T=
n.3227T=
c.3444T= (p.Asp1148=)
c.3369T= (p.Asp1123=)
c.3348T= (p.Asp1116=)
c.3246T= (p.Asp1082=)
c.2307T= (p.Asp769=)
n.3438+119T=
n.3420T=
n.3311T=
n.3174T=
n.2976T=
8g.144512025A>CCA372669009RECQL4c.3279T>G (p.Asp1093Glu)
c.296T>G
n.50-236T>G
c.525T>G (p.Asp175Glu)
c.2208T>G (p.Asp736Glu)
c.3354T>G (p.Asp1118Glu)
c.3258T>G (p.Asp1086Glu)
c.3162T>G (p.Asp1054Glu)
c.3156T>G (p.Asp1052Glu)
c.3081T>G (p.Asp1027Glu)
c.2217T>G (p.Asp739Glu)
n.3352+119T>G
n.3334T>G
n.3227T>G
c.3444T>G (p.Asp1148Glu)
c.3369T>G (p.Asp1123Glu)
c.3348T>G (p.Asp1116Glu)
c.3246T>G (p.Asp1082Glu)
c.2307T>G (p.Asp769Glu)
n.3438+119T>G
n.3420T>G
n.3311T>G
n.3174T>G
n.2976T>G
8g.144512025A>GCA463565963RECQL4c.3279T>C (p.Asp1093=)
c.296T>C
n.50-236T>C
c.525T>C (p.Asp175=)
c.2208T>C (p.Asp736=)
c.3354T>C (p.Asp1118=)
c.3258T>C (p.Asp1086=)
c.3162T>C (p.Asp1054=)
c.3156T>C (p.Asp1052=)
c.3081T>C (p.Asp1027=)
c.2217T>C (p.Asp739=)
n.3352+119T>C
n.3334T>C
n.3227T>C
c.3444T>C (p.Asp1148=)
c.3369T>C (p.Asp1123=)
c.3348T>C (p.Asp1116=)
c.3246T>C (p.Asp1082=)
c.2307T>C (p.Asp769=)
n.3438+119T>C
n.3420T>C
n.3311T>C
n.3174T>C
n.2976T>C
 ClinVar dbSNP
8g.144512025A>TCA372669012RECQL4c.3279T>A (p.Asp1093Glu)
c.296T>A
n.50-236T>A
c.525T>A (p.Asp175Glu)
c.2208T>A (p.Asp736Glu)
c.3354T>A (p.Asp1118Glu)
c.3258T>A (p.Asp1086Glu)
c.3162T>A (p.Asp1054Glu)
c.3156T>A (p.Asp1052Glu)
c.3081T>A (p.Asp1027Glu)
c.2217T>A (p.Asp739Glu)
n.3352+119T>A
n.3334T>A
n.3227T>A
c.3444T>A (p.Asp1148Glu)
c.3369T>A (p.Asp1123Glu)
c.3348T>A (p.Asp1116Glu)
c.3246T>A (p.Asp1082Glu)
c.2307T>A (p.Asp769Glu)
n.3438+119T>A
n.3420T>A
n.3311T>A
n.3174T>A
n.2976T>A
8g.144512025_144512026dupCA2689129246RECQL4c.3278_3279dup (p.Glu1094MetfsTer?)
c.295_296dup
n.50-237_50-236dup
c.524_525dup (p.Glu176MetfsTer?)
c.2207_2208dup (p.Glu737MetfsTer?)
c.3353_3354dup (p.Glu1119MetfsTer?)
c.3257_3258dup (p.Glu1087MetfsTer?)
c.3161_3162dup (p.Glu1055MetfsTer?)
c.3155_3156dup (p.Glu1053MetfsTer?)
c.3080_3081dup (p.Glu1028MetfsTer?)
c.2216_2217dup (p.Glu740MetfsTer?)
n.3352+118_3352+119dup
n.3333_3334dup
n.3226_3227dup
c.3443_3444dup (p.Glu1149MetfsTer?)
c.3368_3369dup (p.Glu1124MetfsTer?)
c.3347_3348dup (p.Glu1117MetfsTer?)
c.3245_3246dup (p.Glu1083MetfsTer?)
c.2306_2307dup (p.Glu770MetfsTer?)
n.3438+118_3438+119dup
n.3419_3420dup
n.3310_3311dup
n.3173_3174dup
n.2975_2976dup
 ClinVar gnomAD v4

Number of alleles fetched