Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.32645714_32645716dupCA637642732SYNJ1c.3447_3449dup (p.Pro1150_Arg1151insPro)
c.3315_3317dup (p.Pro1106_Arg1107insPro)
c.3330_3332dup (p.Pro1111_Arg1112insPro)
c.3432_3434dup (p.Pro1145_Arg1146insPro)
 dbSNP gnomAD v2 gnomAD v4
21g.32645714_32645716delCA637642730SYNJ1c.3447_3449del (p.Pro1150del)
c.3315_3317del (p.Pro1106del)
c.3330_3332del (p.Pro1111del)
c.3432_3434del (p.Pro1145del)
 gnomAD v2 gnomAD v4
21g.32645711_32645716delCA2654267046SYNJ1c.3444_3449del (p.Pro1149_Pro1150del)
c.3312_3317del (p.Pro1105_Pro1106del)
c.3327_3332del (p.Pro1110_Pro1111del)
c.3429_3434del (p.Pro1144_Pro1145del)
 gnomAD v4
21g.32645707C>ACA512144540SYNJ1c.3447G>T (p.Pro1149=)
c.3315G>T (p.Pro1105=)
c.3330G>T (p.Pro1110=)
c.4G>T
c.3432G>T (p.Pro1144=)
 dbSNP gnomAD v2 gnomAD v4
21g.32645707C=CA2386320878SYNJ1c.3447G= (p.Pro1149=)
c.3315G= (p.Pro1105=)
c.3330G= (p.Pro1110=)
c.4G=
c.3432G= (p.Pro1144=)
21g.32645707C>GCA512144541SYNJ1c.3447G>C (p.Pro1149=)
c.3315G>C (p.Pro1105=)
c.3330G>C (p.Pro1110=)
c.4G>C
c.3432G>C (p.Pro1144=)
21g.32645707C>TCA512144542SYNJ1c.3447G>A (p.Pro1149=)
c.3315G>A (p.Pro1105=)
c.3330G>A (p.Pro1110=)
c.4G>A
c.3432G>A (p.Pro1144=)
 gnomAD v4
21g.32645708G>ACA410068278SYNJ1c.3446C>T (p.Pro1149Leu)
c.3314C>T (p.Pro1105Leu)
c.3329C>T (p.Pro1110Leu)
c.3C>T
c.3431C>T (p.Pro1144Leu)
 dbSNP gnomAD v4
21g.32645708G>CCA410068279SYNJ1c.3446C>G (p.Pro1149Arg)
c.3314C>G (p.Pro1105Arg)
c.3329C>G (p.Pro1110Arg)
c.3C>G
c.3431C>G (p.Pro1144Arg)
21g.32645708G>TCA410068280SYNJ1c.3446C>A (p.Pro1149Gln)
c.3314C>A (p.Pro1105Gln)
c.3329C>A (p.Pro1110Gln)
c.3C>A
c.3431C>A (p.Pro1144Gln)
 gnomAD v4
21g.32645709G>ACA410068281SYNJ1c.3445C>T (p.Pro1149Ser)
c.3313C>T (p.Pro1105Ser)
c.3328C>T (p.Pro1110Ser)
c.2C>T
c.3430C>T (p.Pro1144Ser)
 gnomAD v4
21g.32645709G>CCA410068282SYNJ1c.3445C>G (p.Pro1149Ala)
c.3313C>G (p.Pro1105Ala)
c.3328C>G (p.Pro1110Ala)
c.2C>G
c.3430C>G (p.Pro1144Ala)
 gnomAD v4
21g.32645709G>TCA410068283SYNJ1c.3445C>A (p.Pro1149Thr)
c.3313C>A (p.Pro1105Thr)
c.3328C>A (p.Pro1110Thr)
c.2C>A
c.3430C>A (p.Pro1144Thr)
 gnomAD v4
21g.32645710delCA512144552SYNJ1c.3444del (p.Pro1149ArgfsTer?)
c.3312del (p.Pro1105ArgfsTer?)
c.3327del (p.Pro1110ArgfsTer?)
c.1del
c.3429del (p.Pro1144ArgfsTer?)
 COSMIC COSMIC
21g.32645710C>ACA512144547SYNJ1c.3444G>T (p.Pro1148=)
c.3312G>T (p.Pro1104=)
c.3327G>T (p.Pro1109=)
c.1G>T
c.3429G>T (p.Pro1143=)
 gnomAD v4
21g.32645710C=CA2386320879SYNJ1c.3444G= (p.Pro1148=)
c.3312G= (p.Pro1104=)
c.3327G= (p.Pro1109=)
c.1G=
c.3429G= (p.Pro1143=)
21g.32645710C>GCA512144549SYNJ1c.3444G>C (p.Pro1148=)
c.3312G>C (p.Pro1104=)
c.3327G>C (p.Pro1109=)
c.1G>C
c.3429G>C (p.Pro1143=)
21g.32645710C>TCA512144551SYNJ1c.3444G>A (p.Pro1148=)
c.3312G>A (p.Pro1104=)
c.3327G>A (p.Pro1109=)
c.1G>A
c.3429G>A (p.Pro1143=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32645711G>ACA410068284SYNJ1c.3443C>T (p.Pro1148Leu)
c.3311C>T (p.Pro1104Leu)
c.3326C>T (p.Pro1109Leu)
c.3428C>T (p.Pro1143Leu)
 gnomAD v4
21g.32645711G>CCA410068285SYNJ1c.3443C>G (p.Pro1148Arg)
c.3311C>G (p.Pro1104Arg)
c.3326C>G (p.Pro1109Arg)
c.3428C>G (p.Pro1143Arg)
21g.32645711G>TCA410068286SYNJ1c.3443C>A (p.Pro1148Gln)
c.3311C>A (p.Pro1104Gln)
c.3326C>A (p.Pro1109Gln)
c.3428C>A (p.Pro1143Gln)
 gnomAD v4
21g.32645712G>ACA410068287SYNJ1c.3442C>T (p.Pro1148Ser)
c.3310C>T (p.Pro1104Ser)
c.3325C>T (p.Pro1109Ser)
c.3427C>T (p.Pro1143Ser)
 gnomAD v4
21g.32645712G>CCA410068288SYNJ1c.3442C>G (p.Pro1148Ala)
c.3310C>G (p.Pro1104Ala)
c.3325C>G (p.Pro1109Ala)
c.3427C>G (p.Pro1143Ala)
21g.32645712G>TCA410068289SYNJ1c.3442C>A (p.Pro1148Thr)
c.3310C>A (p.Pro1104Thr)
c.3325C>A (p.Pro1109Thr)
c.3427C>A (p.Pro1143Thr)
 gnomAD v4
21g.32645717_32645761delCA1021878800SYNJ1c.3398_3442del (p.Leu1133_Pro1147del)
c.3266_3310del (p.Leu1089_Pro1103del)
c.3281_3325del (p.Leu1094_Pro1108del)
c.3383_3427del (p.Leu1128_Pro1142del)
 gnomAD v3 gnomAD v4
21g.32645713C>ACA512144561SYNJ1c.3441G>T (p.Pro1147=)
c.3309G>T (p.Pro1103=)
c.3324G>T (p.Pro1108=)
c.3426G>T (p.Pro1142=)
 gnomAD v4
21g.32645713C=CA2386320880SYNJ1c.3441G= (p.Pro1147=)
c.3309G= (p.Pro1103=)
c.3324G= (p.Pro1108=)
c.3426G= (p.Pro1142=)
21g.32645713C>GCA512144562SYNJ1c.3441G>C (p.Pro1147=)
c.3309G>C (p.Pro1103=)
c.3324G>C (p.Pro1108=)
c.3426G>C (p.Pro1142=)
21g.32645713C>TCA10003449SYNJ1c.3441G>A (p.Pro1147=)
c.3309G>A (p.Pro1103=)
c.3324G>A (p.Pro1108=)
c.3426G>A (p.Pro1142=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32645714G>ACA10003450SYNJ1c.3440C>T (p.Pro1147Leu)
c.3308C>T (p.Pro1103Leu)
c.3323C>T (p.Pro1108Leu)
c.3425C>T (p.Pro1142Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32645714G>CCA410068291SYNJ1c.3440C>G (p.Pro1147Arg)
c.3308C>G (p.Pro1103Arg)
c.3323C>G (p.Pro1108Arg)
c.3425C>G (p.Pro1142Arg)
 gnomAD v4
21g.32645714G=CA2386320881SYNJ1c.3440C= (p.Pro1147=)
c.3308C= (p.Pro1103=)
c.3323C= (p.Pro1108=)
c.3425C= (p.Pro1142=)
21g.32645714G>TCA410068290SYNJ1c.3440C>A (p.Pro1147Gln)
c.3308C>A (p.Pro1103Gln)
c.3323C>A (p.Pro1108Gln)
c.3425C>A (p.Pro1142Gln)
 dbSNP gnomAD v4
21g.32645715G>ACA410068292SYNJ1c.3439C>T (p.Pro1147Ser)
c.3307C>T (p.Pro1103Ser)
c.3322C>T (p.Pro1108Ser)
c.3424C>T (p.Pro1142Ser)
 dbSNP gnomAD v2 gnomAD v4
21g.32645715G>CCA410068293SYNJ1c.3439C>G (p.Pro1147Ala)
c.3307C>G (p.Pro1103Ala)
c.3322C>G (p.Pro1108Ala)
c.3424C>G (p.Pro1142Ala)
21g.32645715G=CA2386320882SYNJ1c.3439C= (p.Pro1147=)
c.3307C= (p.Pro1103=)
c.3322C= (p.Pro1108=)
c.3424C= (p.Pro1142=)
21g.32645715G>TCA410068294SYNJ1c.3439C>A (p.Pro1147Thr)
c.3307C>A (p.Pro1103Thr)
c.3322C>A (p.Pro1108Thr)
c.3424C>A (p.Pro1142Thr)
 gnomAD v4
21g.32645717_32645719dupCA2817728506SYNJ1c.3437_3439dup (p.Arg1146_Pro1147insArg)
c.3305_3307dup (p.Arg1102_Pro1103insArg)
c.3320_3322dup (p.Arg1107_Pro1108insArg)
c.3422_3424dup (p.Arg1141_Pro1142insArg)
21g.32645716C>ACA512144570SYNJ1c.3438G>T (p.Arg1146=)
c.3306G>T (p.Arg1102=)
c.3321G>T (p.Arg1107=)
c.3423G>T (p.Arg1141=)
21g.32645716C>GCA512144572SYNJ1c.3438G>C (p.Arg1146=)
c.3306G>C (p.Arg1102=)
c.3321G>C (p.Arg1107=)
c.3423G>C (p.Arg1141=)
21g.32645716C>TCA512144573SYNJ1c.3438G>A (p.Arg1146=)
c.3306G>A (p.Arg1102=)
c.3321G>A (p.Arg1107=)
c.3423G>A (p.Arg1141=)
 gnomAD v4
21g.32645717C>ACA410068295SYNJ1c.3437G>T (p.Arg1146Leu)
c.3305G>T (p.Arg1102Leu)
c.3320G>T (p.Arg1107Leu)
c.3422G>T (p.Arg1141Leu)
 gnomAD v4
21g.32645717C=CA2386320883SYNJ1c.3437G= (p.Arg1146=)
c.3305G= (p.Arg1102=)
c.3320G= (p.Arg1107=)
c.3422G= (p.Arg1141=)
21g.32645717C>GCA410068296SYNJ1c.3437G>C (p.Arg1146Pro)
c.3305G>C (p.Arg1102Pro)
c.3320G>C (p.Arg1107Pro)
c.3422G>C (p.Arg1141Pro)
21g.32645717C>TCA319422834SYNJ1c.3437G>A (p.Arg1146Gln)
c.3305G>A (p.Arg1102Gln)
c.3320G>A (p.Arg1107Gln)
c.3422G>A (p.Arg1141Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645718G>ACA410068297SYNJ1c.3436C>T (p.Arg1146Trp)
c.3304C>T (p.Arg1102Trp)
c.3319C>T (p.Arg1107Trp)
c.3421C>T (p.Arg1141Trp)
 gnomAD v4
21g.32645718G>CCA410068298SYNJ1c.3436C>G (p.Arg1146Gly)
c.3304C>G (p.Arg1102Gly)
c.3319C>G (p.Arg1107Gly)
c.3421C>G (p.Arg1141Gly)
21g.32645718G=CA2386320884SYNJ1c.3436C= (p.Arg1146=)
c.3304C= (p.Arg1102=)
c.3319C= (p.Arg1107=)
c.3421C= (p.Arg1141=)
21g.32645718G>TCA512144577SYNJ1c.3436C>A (p.Arg1146=)
c.3304C>A (p.Arg1102=)
c.3319C>A (p.Arg1107=)
c.3421C>A (p.Arg1141=)
 dbSNP gnomAD v3 gnomAD v4
21g.32645719C>ACA410068299SYNJ1c.3435G>T (p.Lys1145Asn)
c.3303G>T (p.Lys1101Asn)
c.3318G>T (p.Lys1106Asn)
c.3420G>T (p.Lys1140Asn)
 gnomAD v4
21g.32645719C=CA2386320885SYNJ1c.3435G= (p.Lys1145=)
c.3303G= (p.Lys1101=)
c.3318G= (p.Lys1106=)
c.3420G= (p.Lys1140=)
21g.32645719C>GCA410068300SYNJ1c.3435G>C (p.Lys1145Asn)
c.3303G>C (p.Lys1101Asn)
c.3318G>C (p.Lys1106Asn)
c.3420G>C (p.Lys1140Asn)
 ClinVar dbSNP gnomAD v2
21g.32645719C>TCA512144581SYNJ1c.3435G>A (p.Lys1145=)
c.3303G>A (p.Lys1101=)
c.3318G>A (p.Lys1106=)
c.3420G>A (p.Lys1140=)
21g.32645720T>ACA410068301SYNJ1c.3434A>T (p.Lys1145Met)
c.3302A>T (p.Lys1101Met)
c.3317A>T (p.Lys1106Met)
c.3419A>T (p.Lys1140Met)
21g.32645720T>CCA410068302SYNJ1c.3434A>G (p.Lys1145Arg)
c.3302A>G (p.Lys1101Arg)
c.3317A>G (p.Lys1106Arg)
c.3419A>G (p.Lys1140Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.32645720T>GCA410068303SYNJ1c.3434A>C (p.Lys1145Thr)
c.3302A>C (p.Lys1101Thr)
c.3317A>C (p.Lys1106Thr)
c.3419A>C (p.Lys1140Thr)
 ClinVar gnomAD v4
21g.32645720T=CA2386320886SYNJ1c.3434A= (p.Lys1145=)
c.3302A= (p.Lys1101=)
c.3317A= (p.Lys1106=)
c.3419A= (p.Lys1140=)
21g.32645721T>ACA410068304SYNJ1c.3433A>T (p.Lys1145Ter)
c.3301A>T (p.Lys1101Ter)
c.3316A>T (p.Lys1106Ter)
c.3418A>T (p.Lys1140Ter)
21g.32645721T>CCA410068306SYNJ1c.3433A>G (p.Lys1145Glu)
c.3301A>G (p.Lys1101Glu)
c.3316A>G (p.Lys1106Glu)
c.3418A>G (p.Lys1140Glu)
21g.32645721T>GCA410068305SYNJ1c.3433A>C (p.Lys1145Gln)
c.3301A>C (p.Lys1101Gln)
c.3316A>C (p.Lys1106Gln)
c.3418A>C (p.Lys1140Gln)
21g.32645722G>ACA512144588SYNJ1c.3432C>T (p.Pro1144=)
c.3300C>T (p.Pro1100=)
c.3315C>T (p.Pro1105=)
c.3417C>T (p.Pro1139=)
21g.32645722G>CCA512144589SYNJ1c.3432C>G (p.Pro1144=)
c.3300C>G (p.Pro1100=)
c.3315C>G (p.Pro1105=)
c.3417C>G (p.Pro1139=)
21g.32645722G>TCA512144591SYNJ1c.3432C>A (p.Pro1144=)
c.3300C>A (p.Pro1100=)
c.3315C>A (p.Pro1105=)
c.3417C>A (p.Pro1139=)
21g.32645724delCA2817728507SYNJ1c.3432del (p.Lys1145SerfsTer?)
c.3300del (p.Lys1101SerfsTer?)
c.3315del (p.Lys1106SerfsTer?)
c.3417del (p.Lys1140SerfsTer?)
21g.32645723G>ACA410068307SYNJ1c.3431C>T (p.Pro1144Leu)
c.3299C>T (p.Pro1100Leu)
c.3314C>T (p.Pro1105Leu)
c.3416C>T (p.Pro1139Leu)
21g.32645723G>CCA410068309SYNJ1c.3431C>G (p.Pro1144Arg)
c.3299C>G (p.Pro1100Arg)
c.3314C>G (p.Pro1105Arg)
c.3416C>G (p.Pro1139Arg)
21g.32645723G>TCA410068308SYNJ1c.3431C>A (p.Pro1144His)
c.3299C>A (p.Pro1100His)
c.3314C>A (p.Pro1105His)
c.3416C>A (p.Pro1139His)
21g.32645724G>ACA410068310SYNJ1c.3430C>T (p.Pro1144Ser)
c.3298C>T (p.Pro1100Ser)
c.3313C>T (p.Pro1105Ser)
c.3415C>T (p.Pro1139Ser)
 gnomAD v4
21g.32645724G>CCA410068311SYNJ1c.3430C>G (p.Pro1144Ala)
c.3298C>G (p.Pro1100Ala)
c.3313C>G (p.Pro1105Ala)
c.3415C>G (p.Pro1139Ala)
 gnomAD v4
21g.32645724G>TCA410068312SYNJ1c.3430C>A (p.Pro1144Thr)
c.3298C>A (p.Pro1100Thr)
c.3313C>A (p.Pro1105Thr)
c.3415C>A (p.Pro1139Thr)
 gnomAD v4
21g.32645725C>ACA410068313SYNJ1c.3429G>T (p.Glu1143Asp)
c.3297G>T (p.Glu1099Asp)
c.3312G>T (p.Glu1104Asp)
c.3414G>T (p.Glu1138Asp)
 gnomAD v4
21g.32645725C>GCA410068314SYNJ1c.3429G>C (p.Glu1143Asp)
c.3297G>C (p.Glu1099Asp)
c.3312G>C (p.Glu1104Asp)
c.3414G>C (p.Glu1138Asp)
21g.32645725C>TCA512144598SYNJ1c.3429G>A (p.Glu1143=)
c.3297G>A (p.Glu1099=)
c.3312G>A (p.Glu1104=)
c.3414G>A (p.Glu1138=)
 gnomAD v4
21g.32645726T>ACA410068315SYNJ1c.3428A>T (p.Glu1143Val)
c.3296A>T (p.Glu1099Val)
c.3311A>T (p.Glu1104Val)
c.3413A>T (p.Glu1138Val)
21g.32645726T>CCA410068316SYNJ1c.3428A>G (p.Glu1143Gly)
c.3296A>G (p.Glu1099Gly)
c.3311A>G (p.Glu1104Gly)
c.3413A>G (p.Glu1138Gly)
 gnomAD v4
21g.32645726T>GCA410068317SYNJ1c.3428A>C (p.Glu1143Ala)
c.3296A>C (p.Glu1099Ala)
c.3311A>C (p.Glu1104Ala)
c.3413A>C (p.Glu1138Ala)
21g.32645727C>ACA410068318SYNJ1c.3427G>T (p.Glu1143Ter)
c.3295G>T (p.Glu1099Ter)
c.3310G>T (p.Glu1104Ter)
c.3412G>T (p.Glu1138Ter)
21g.32645727C>GCA410068319SYNJ1c.3427G>C (p.Glu1143Gln)
c.3295G>C (p.Glu1099Gln)
c.3310G>C (p.Glu1104Gln)
c.3412G>C (p.Glu1138Gln)
 gnomAD v4
21g.32645727C>TCA410068320SYNJ1c.3427G>A (p.Glu1143Lys)
c.3295G>A (p.Glu1099Lys)
c.3310G>A (p.Glu1104Lys)
c.3412G>A (p.Glu1138Lys)
21g.32645728C>ACA410068321SYNJ1c.3426G>T (p.Leu1142Phe)
c.3294G>T (p.Leu1098Phe)
c.3309G>T (p.Leu1103Phe)
c.3411G>T (p.Leu1137Phe)
21g.32645728C>GCA410068322SYNJ1c.3426G>C (p.Leu1142Phe)
c.3294G>C (p.Leu1098Phe)
c.3309G>C (p.Leu1103Phe)
c.3411G>C (p.Leu1137Phe)
21g.32645728C>TCA512144603SYNJ1c.3426G>A (p.Leu1142=)
c.3294G>A (p.Leu1098=)
c.3309G>A (p.Leu1103=)
c.3411G>A (p.Leu1137=)
 gnomAD v4
21g.32645729A>CCA410068323SYNJ1c.3425T>G (p.Leu1142Trp)
c.3293T>G (p.Leu1098Trp)
c.3308T>G (p.Leu1103Trp)
c.3410T>G (p.Leu1137Trp)
21g.32645729A>GCA410068327SYNJ1c.3425T>C (p.Leu1142Ser)
c.3293T>C (p.Leu1098Ser)
c.3308T>C (p.Leu1103Ser)
c.3410T>C (p.Leu1137Ser)
21g.32645729A>TCA410068325SYNJ1c.3425T>A (p.Leu1142Ter)
c.3293T>A (p.Leu1098Ter)
c.3308T>A (p.Leu1103Ter)
c.3410T>A (p.Leu1137Ter)
21g.32645730A>CCA410068329SYNJ1c.3424T>G (p.Leu1142Val)
c.3292T>G (p.Leu1098Val)
c.3307T>G (p.Leu1103Val)
c.3409T>G (p.Leu1137Val)
21g.32645730A>GCA512144607SYNJ1c.3424T>C (p.Leu1142=)
c.3292T>C (p.Leu1098=)
c.3307T>C (p.Leu1103=)
c.3409T>C (p.Leu1137=)
21g.32645730A>TCA410068331SYNJ1c.3424T>A (p.Leu1142Met)
c.3292T>A (p.Leu1098Met)
c.3307T>A (p.Leu1103Met)
c.3409T>A (p.Leu1137Met)
 gnomAD v4
21g.32645731G>ACA512144609SYNJ1c.3423C>T (p.Pro1141=)
c.3291C>T (p.Pro1097=)
c.3306C>T (p.Pro1102=)
c.3408C>T (p.Pro1136=)
 gnomAD v4
21g.32645731G>CCA512144611SYNJ1c.3423C>G (p.Pro1141=)
c.3291C>G (p.Pro1097=)
c.3306C>G (p.Pro1102=)
c.3408C>G (p.Pro1136=)
21g.32645731G>TCA512144612SYNJ1c.3423C>A (p.Pro1141=)
c.3291C>A (p.Pro1097=)
c.3306C>A (p.Pro1102=)
c.3408C>A (p.Pro1136=)
 gnomAD v4
21g.32645732G>ACA410068334SYNJ1c.3422C>T (p.Pro1141Leu)
c.3290C>T (p.Pro1097Leu)
c.3305C>T (p.Pro1102Leu)
c.3407C>T (p.Pro1136Leu)
21g.32645732G>CCA410068336SYNJ1c.3422C>G (p.Pro1141Arg)
c.3290C>G (p.Pro1097Arg)
c.3305C>G (p.Pro1102Arg)
c.3407C>G (p.Pro1136Arg)
21g.32645732G>TCA410068338SYNJ1c.3422C>A (p.Pro1141His)
c.3290C>A (p.Pro1097His)
c.3305C>A (p.Pro1102His)
c.3407C>A (p.Pro1136His)
 gnomAD v4
21g.32645733G>ACA410068343SYNJ1c.3421C>T (p.Pro1141Ser)
c.3289C>T (p.Pro1097Ser)
c.3304C>T (p.Pro1102Ser)
c.3406C>T (p.Pro1136Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645733G>CCA410068345SYNJ1c.3421C>G (p.Pro1141Ala)
c.3289C>G (p.Pro1097Ala)
c.3304C>G (p.Pro1102Ala)
c.3406C>G (p.Pro1136Ala)
 ClinVar
21g.32645733G=CA2386320887SYNJ1c.3421C= (p.Pro1141=)
c.3289C= (p.Pro1097=)
c.3304C= (p.Pro1102=)
c.3406C= (p.Pro1136=)
21g.32645733G>TCA410068347SYNJ1c.3421C>A (p.Pro1141Thr)
c.3289C>A (p.Pro1097Thr)
c.3304C>A (p.Pro1102Thr)
c.3406C>A (p.Pro1136Thr)
 gnomAD v4
21g.32645734C>ACA410068349SYNJ1c.3420G>T (p.Gln1140His)
c.3288G>T (p.Gln1096His)
c.3303G>T (p.Gln1101His)
c.3405G>T (p.Gln1135His)
 gnomAD v4
21g.32645734C>GCA410068351SYNJ1c.3420G>C (p.Gln1140His)
c.3288G>C (p.Gln1096His)
c.3303G>C (p.Gln1101His)
c.3405G>C (p.Gln1135His)
21g.32645734C>TCA512144618SYNJ1c.3420G>A (p.Gln1140=)
c.3288G>A (p.Gln1096=)
c.3303G>A (p.Gln1101=)
c.3405G>A (p.Gln1135=)
 ClinVar gnomAD v4
21g.32645735T>ACA410068360SYNJ1c.3419A>T (p.Gln1140Leu)
c.3287A>T (p.Gln1096Leu)
c.3302A>T (p.Gln1101Leu)
c.3404A>T (p.Gln1135Leu)
21g.32645735T>CCA410068358SYNJ1c.3419A>G (p.Gln1140Arg)
c.3287A>G (p.Gln1096Arg)
c.3302A>G (p.Gln1101Arg)
c.3404A>G (p.Gln1135Arg)
 gnomAD v4
21g.32645735T>GCA410068356SYNJ1c.3419A>C (p.Gln1140Pro)
c.3287A>C (p.Gln1096Pro)
c.3302A>C (p.Gln1101Pro)
c.3404A>C (p.Gln1135Pro)
21g.32645736G>ACA410068367SYNJ1c.3418C>T (p.Gln1140Ter)
c.3286C>T (p.Gln1096Ter)
c.3301C>T (p.Gln1101Ter)
c.3403C>T (p.Gln1135Ter)
 gnomAD v4
21g.32645736G>CCA319422836SYNJ1c.3418C>G (p.Gln1140Glu)
c.3286C>G (p.Gln1096Glu)
c.3301C>G (p.Gln1101Glu)
c.3403C>G (p.Gln1135Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.32645736G=CA2386320888SYNJ1c.3418C= (p.Gln1140=)
c.3286C= (p.Gln1096=)
c.3301C= (p.Gln1101=)
c.3403C= (p.Gln1135=)
21g.32645736G>TCA410068371SYNJ1c.3418C>A (p.Gln1140Lys)
c.3286C>A (p.Gln1096Lys)
c.3301C>A (p.Gln1101Lys)
c.3403C>A (p.Gln1135Lys)
 gnomAD v4
21g.32645737G>ACA512144620SYNJ1c.3417C>T (p.Ala1139=)
c.3285C>T (p.Ala1095=)
c.3300C>T (p.Ala1100=)
c.3402C>T (p.Ala1134=)
 ClinVar dbSNP gnomAD v4
21g.32645737G>CCA512144621SYNJ1c.3417C>G (p.Ala1139=)
c.3285C>G (p.Ala1095=)
c.3300C>G (p.Ala1100=)
c.3402C>G (p.Ala1134=)
21g.32645737G=CA2386320889SYNJ1c.3417C= (p.Ala1139=)
c.3285C= (p.Ala1095=)
c.3300C= (p.Ala1100=)
c.3402C= (p.Ala1134=)
21g.32645737G>TCA512144623SYNJ1c.3417C>A (p.Ala1139=)
c.3285C>A (p.Ala1095=)
c.3300C>A (p.Ala1100=)
c.3402C>A (p.Ala1134=)
 gnomAD v4
21g.32645738G>ACA410068373SYNJ1c.3416C>T (p.Ala1139Val)
c.3284C>T (p.Ala1095Val)
c.3299C>T (p.Ala1100Val)
c.3401C>T (p.Ala1134Val)
21g.32645738G>CCA410068376SYNJ1c.3416C>G (p.Ala1139Gly)
c.3284C>G (p.Ala1095Gly)
c.3299C>G (p.Ala1100Gly)
c.3401C>G (p.Ala1134Gly)
21g.32645738G>TCA410068377SYNJ1c.3416C>A (p.Ala1139Asp)
c.3284C>A (p.Ala1095Asp)
c.3299C>A (p.Ala1100Asp)
c.3401C>A (p.Ala1134Asp)
 gnomAD v4
21g.32645739C>ACA410068381SYNJ1c.3415G>T (p.Ala1139Ser)
c.3283G>T (p.Ala1095Ser)
c.3298G>T (p.Ala1100Ser)
c.3400G>T (p.Ala1134Ser)
 gnomAD v4
21g.32645739C=CA2386320890SYNJ1c.3415G= (p.Ala1139=)
c.3283G= (p.Ala1095=)
c.3298G= (p.Ala1100=)
c.3400G= (p.Ala1134=)
21g.32645739C>GCA410068382SYNJ1c.3415G>C (p.Ala1139Pro)
c.3283G>C (p.Ala1095Pro)
c.3298G>C (p.Ala1100Pro)
c.3400G>C (p.Ala1134Pro)
21g.32645739C>TCA319422838SYNJ1c.3415G>A (p.Ala1139Thr)
c.3283G>A (p.Ala1095Thr)
c.3298G>A (p.Ala1100Thr)
c.3400G>A (p.Ala1134Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645739_32645740insTTCCTCA2654267047SYNJ1c.3414_3415insAGGAA (p.Ala1139ArgfsTer?)
c.3282_3283insAGGAA (p.Ala1095ArgfsTer?)
c.3297_3298insAGGAA (p.Ala1100ArgfsTer?)
c.3399_3400insAGGAA (p.Ala1134ArgfsTer?)
 gnomAD v4
21g.32645740G>ACA512144630SYNJ1c.3414C>T (p.Pro1138=)
c.3282C>T (p.Pro1094=)
c.3297C>T (p.Pro1099=)
c.3399C>T (p.Pro1133=)
 dbSNP gnomAD v2
21g.32645740G>CCA512144632SYNJ1c.3414C>G (p.Pro1138=)
c.3282C>G (p.Pro1094=)
c.3297C>G (p.Pro1099=)
c.3399C>G (p.Pro1133=)
21g.32645740G=CA2386320891SYNJ1c.3414C= (p.Pro1138=)
c.3282C= (p.Pro1094=)
c.3297C= (p.Pro1099=)
c.3399C= (p.Pro1133=)
21g.32645740G>TCA512144634SYNJ1c.3414C>A (p.Pro1138=)
c.3282C>A (p.Pro1094=)
c.3297C>A (p.Pro1099=)
c.3399C>A (p.Pro1133=)
 gnomAD v4
21g.32645741G>ACA410068386SYNJ1c.3413C>T (p.Pro1138Leu)
c.3281C>T (p.Pro1094Leu)
c.3296C>T (p.Pro1099Leu)
c.3398C>T (p.Pro1133Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.32645741G>CCA410068389SYNJ1c.3413C>G (p.Pro1138Arg)
c.3281C>G (p.Pro1094Arg)
c.3296C>G (p.Pro1099Arg)
c.3398C>G (p.Pro1133Arg)
21g.32645741G=CA2386320892SYNJ1c.3413C= (p.Pro1138=)
c.3281C= (p.Pro1094=)
c.3296C= (p.Pro1099=)
c.3398C= (p.Pro1133=)
21g.32645741G>TCA410068391SYNJ1c.3413C>A (p.Pro1138His)
c.3281C>A (p.Pro1094His)
c.3296C>A (p.Pro1099His)
c.3398C>A (p.Pro1133His)
 dbSNP gnomAD v3 gnomAD v4
21g.32645742G>ACA410068396SYNJ1c.3412C>T (p.Pro1138Ser)
c.3280C>T (p.Pro1094Ser)
c.3295C>T (p.Pro1099Ser)
c.3397C>T (p.Pro1133Ser)
 gnomAD v4
21g.32645742G>CCA410068399SYNJ1c.3412C>G (p.Pro1138Ala)
c.3280C>G (p.Pro1094Ala)
c.3295C>G (p.Pro1099Ala)
c.3397C>G (p.Pro1133Ala)
21g.32645742G>TCA410068394SYNJ1c.3412C>A (p.Pro1138Thr)
c.3280C>A (p.Pro1094Thr)
c.3295C>A (p.Pro1099Thr)
c.3397C>A (p.Pro1133Thr)
21g.32645743G>ACA512144640SYNJ1c.3411C>T (p.Asp1137=)
c.3279C>T (p.Asp1093=)
c.3294C>T (p.Asp1098=)
c.3396C>T (p.Asp1132=)
 gnomAD v4
21g.32645743G>CCA410068402SYNJ1c.3411C>G (p.Asp1137Glu)
c.3279C>G (p.Asp1093Glu)
c.3294C>G (p.Asp1098Glu)
c.3396C>G (p.Asp1132Glu)
21g.32645743G>TCA410068404SYNJ1c.3411C>A (p.Asp1137Glu)
c.3279C>A (p.Asp1093Glu)
c.3294C>A (p.Asp1098Glu)
c.3396C>A (p.Asp1132Glu)
 gnomAD v4
21g.32645744T>ACA410068407SYNJ1c.3410A>T (p.Asp1137Val)
c.3278A>T (p.Asp1093Val)
c.3293A>T (p.Asp1098Val)
c.3395A>T (p.Asp1132Val)
21g.32645744T>CCA410068409SYNJ1c.3410A>G (p.Asp1137Gly)
c.3278A>G (p.Asp1093Gly)
c.3293A>G (p.Asp1098Gly)
c.3395A>G (p.Asp1132Gly)
21g.32645744T>GCA410068411SYNJ1c.3410A>C (p.Asp1137Ala)
c.3278A>C (p.Asp1093Ala)
c.3293A>C (p.Asp1098Ala)
c.3395A>C (p.Asp1132Ala)
 gnomAD v4
21g.32645745C>ACA410068418SYNJ1c.3409G>T (p.Asp1137Tyr)
c.3277G>T (p.Asp1093Tyr)
c.3292G>T (p.Asp1098Tyr)
c.3394G>T (p.Asp1132Tyr)
 gnomAD v4
21g.32645745C>GCA410068414SYNJ1c.3409G>C (p.Asp1137His)
c.3277G>C (p.Asp1093His)
c.3292G>C (p.Asp1098His)
c.3394G>C (p.Asp1132His)
21g.32645745C>TCA410068416SYNJ1c.3409G>A (p.Asp1137Asn)
c.3277G>A (p.Asp1093Asn)
c.3292G>A (p.Asp1098Asn)
c.3394G>A (p.Asp1132Asn)
21g.32645746T>ACA410068421SYNJ1c.3408A>T (p.Lys1136Asn)
c.3276A>T (p.Lys1092Asn)
c.3291A>T (p.Lys1097Asn)
c.3393A>T (p.Lys1131Asn)
21g.32645746T>CCA512144647SYNJ1c.3408A>G (p.Lys1136=)
c.3276A>G (p.Lys1092=)
c.3291A>G (p.Lys1097=)
c.3393A>G (p.Lys1131=)
 gnomAD v4
21g.32645746T>GCA410068423SYNJ1c.3408A>C (p.Lys1136Asn)
c.3276A>C (p.Lys1092Asn)
c.3291A>C (p.Lys1097Asn)
c.3393A>C (p.Lys1131Asn)
21g.32645748dupCA2654267048SYNJ1c.3408dup (p.Asp1137ArgfsTer?)
c.3276dup (p.Asp1093ArgfsTer?)
c.3291dup (p.Asp1098ArgfsTer?)
c.3393dup (p.Asp1132ArgfsTer?)
 gnomAD v4
21g.32645747T>ACA410068426SYNJ1c.3407A>T (p.Lys1136Ile)
c.3275A>T (p.Lys1092Ile)
c.3290A>T (p.Lys1097Ile)
c.3392A>T (p.Lys1131Ile)
21g.32645747T>CCA319422840SYNJ1c.3407A>G (p.Lys1136Arg)
c.3275A>G (p.Lys1092Arg)
c.3290A>G (p.Lys1097Arg)
c.3392A>G (p.Lys1131Arg)
 ClinVar dbSNP gnomAD v4
21g.32645747T>GCA410068430SYNJ1c.3407A>C (p.Lys1136Thr)
c.3275A>C (p.Lys1092Thr)
c.3290A>C (p.Lys1097Thr)
c.3392A>C (p.Lys1131Thr)
21g.32645747T=CA2386320893SYNJ1c.3407A= (p.Lys1136=)
c.3275A= (p.Lys1092=)
c.3290A= (p.Lys1097=)
c.3392A= (p.Lys1131=)
21g.32645748T>ACA410068433SYNJ1c.3406A>T (p.Lys1136Ter)
c.3274A>T (p.Lys1092Ter)
c.3289A>T (p.Lys1097Ter)
c.3391A>T (p.Lys1131Ter)
21g.32645748T>CCA410068437SYNJ1c.3406A>G (p.Lys1136Glu)
c.3274A>G (p.Lys1092Glu)
c.3289A>G (p.Lys1097Glu)
c.3391A>G (p.Lys1131Glu)
21g.32645748T>GCA410068435SYNJ1c.3406A>C (p.Lys1136Gln)
c.3274A>C (p.Lys1092Gln)
c.3289A>C (p.Lys1097Gln)
c.3391A>C (p.Lys1131Gln)
21g.32645749C>ACA410068440SYNJ1c.3405G>T (p.Gln1135His)
c.3273G>T (p.Gln1091His)
c.3288G>T (p.Gln1096His)
c.3390G>T (p.Gln1130His)
21g.32645749C=CA2386320894SYNJ1c.3405G= (p.Gln1135=)
c.3273G= (p.Gln1091=)
c.3288G= (p.Gln1096=)
c.3390G= (p.Gln1130=)
21g.32645749C>GCA410068442SYNJ1c.3405G>C (p.Gln1135His)
c.3273G>C (p.Gln1091His)
c.3288G>C (p.Gln1096His)
c.3390G>C (p.Gln1130His)
 dbSNP gnomAD v3 gnomAD v4
21g.32645749C>TCA512144653SYNJ1c.3405G>A (p.Gln1135=)
c.3273G>A (p.Gln1091=)
c.3288G>A (p.Gln1096=)
c.3390G>A (p.Gln1130=)
 gnomAD v4
21g.32645750T>ACA410068444SYNJ1c.3404A>T (p.Gln1135Leu)
c.3272A>T (p.Gln1091Leu)
c.3287A>T (p.Gln1096Leu)
c.3389A>T (p.Gln1130Leu)
21g.32645750T>CCA319422844SYNJ1c.3404A>G (p.Gln1135Arg)
c.3272A>G (p.Gln1091Arg)
c.3287A>G (p.Gln1096Arg)
c.3389A>G (p.Gln1130Arg)
 ClinVar dbSNP
21g.32645750T>GCA410068447SYNJ1c.3404A>C (p.Gln1135Pro)
c.3272A>C (p.Gln1091Pro)
c.3287A>C (p.Gln1096Pro)
c.3389A>C (p.Gln1130Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645750T=CA2386320895SYNJ1c.3404A= (p.Gln1135=)
c.3272A= (p.Gln1091=)
c.3287A= (p.Gln1096=)
c.3389A= (p.Gln1130=)
21g.32645750_32645756delinsTGCGGCACA2386320896SYNJ1c.3398_3404delinsTGCCGCA (p.Leu1133=)
c.3266_3272delinsTGCCGCA (p.Leu1089=)
c.3281_3287delinsTGCCGCA (p.Leu1094=)
c.3383_3389delinsTGCCGCA (p.Leu1128=)
21g.32645751G>ACA410068452SYNJ1c.3403C>T (p.Gln1135Ter)
c.3271C>T (p.Gln1091Ter)
c.3286C>T (p.Gln1096Ter)
c.3388C>T (p.Gln1130Ter)
21g.32645751G>CCA410068456SYNJ1c.3403C>G (p.Gln1135Glu)
c.3271C>G (p.Gln1091Glu)
c.3286C>G (p.Gln1096Glu)
c.3388C>G (p.Gln1130Glu)
21g.32645751G>TCA410068454SYNJ1c.3403C>A (p.Gln1135Lys)
c.3271C>A (p.Gln1091Lys)
c.3286C>A (p.Gln1096Lys)
c.3388C>A (p.Gln1130Lys)
 gnomAD v4
21g.32645756_32645761delCA637642750SYNJ1c.3398_3403del (p.Leu1133_Pro1134del)
c.3266_3271del (p.Leu1089_Pro1090del)
c.3281_3286del (p.Leu1094_Pro1095del)
c.3383_3388del (p.Leu1128_Pro1129del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645752C>ACA319422846SYNJ1c.3402G>T (p.Pro1134=)
c.3270G>T (p.Pro1090=)
c.3285G>T (p.Pro1095=)
c.3387G>T (p.Pro1129=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645752C=CA2386320897SYNJ1c.3402G= (p.Pro1134=)
c.3270G= (p.Pro1090=)
c.3285G= (p.Pro1095=)
c.3387G= (p.Pro1129=)
21g.32645752C>GCA512144662SYNJ1c.3402G>C (p.Pro1134=)
c.3270G>C (p.Pro1090=)
c.3285G>C (p.Pro1095=)
c.3387G>C (p.Pro1129=)
21g.32645752C>TCA10003451SYNJ1c.3402G>A (p.Pro1134=)
c.3270G>A (p.Pro1090=)
c.3285G>A (p.Pro1095=)
c.3387G>A (p.Pro1129=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32645753G>ACA10003452SYNJ1c.3401C>T (p.Pro1134Leu)
c.3269C>T (p.Pro1090Leu)
c.3284C>T (p.Pro1095Leu)
c.3386C>T (p.Pro1129Leu)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.32645753G>CCA410068466SYNJ1c.3401C>G (p.Pro1134Arg)
c.3269C>G (p.Pro1090Arg)
c.3284C>G (p.Pro1095Arg)
c.3386C>G (p.Pro1129Arg)
21g.32645753G=CA2386320898SYNJ1c.3401C= (p.Pro1134=)
c.3269C= (p.Pro1090=)
c.3284C= (p.Pro1095=)
c.3386C= (p.Pro1129=)
21g.32645753G>TCA410068468SYNJ1c.3401C>A (p.Pro1134Gln)
c.3269C>A (p.Pro1090Gln)
c.3284C>A (p.Pro1095Gln)
c.3386C>A (p.Pro1129Gln)
21g.32645754G>ACA410068470SYNJ1c.3400C>T (p.Pro1134Ser)
c.3268C>T (p.Pro1090Ser)
c.3283C>T (p.Pro1095Ser)
c.3385C>T (p.Pro1129Ser)
 gnomAD v4
21g.32645754G>CCA410068472SYNJ1c.3400C>G (p.Pro1134Ala)
c.3268C>G (p.Pro1090Ala)
c.3283C>G (p.Pro1095Ala)
c.3385C>G (p.Pro1129Ala)
21g.32645754G>TCA410068475SYNJ1c.3400C>A (p.Pro1134Thr)
c.3268C>A (p.Pro1090Thr)
c.3283C>A (p.Pro1095Thr)
c.3385C>A (p.Pro1129Thr)
 gnomAD v4
21g.32645756_32645758delCA2654267049SYNJ1c.3398_3400del (p.Leu1133del)
c.3266_3268del (p.Leu1089del)
c.3281_3283del (p.Leu1094del)
c.3383_3385del (p.Leu1128del)
 gnomAD v4
21g.32645755C>ACA512144678SYNJ1c.3399G>T (p.Leu1133=)
c.3267G>T (p.Leu1089=)
c.3282G>T (p.Leu1094=)
c.3384G>T (p.Leu1128=)
 gnomAD v4
21g.32645755C=CA2386320899SYNJ1c.3399G= (p.Leu1133=)
c.3267G= (p.Leu1089=)
c.3282G= (p.Leu1094=)
c.3384G= (p.Leu1128=)
21g.32645755C>GCA512144674SYNJ1c.3399G>C (p.Leu1133=)
c.3267G>C (p.Leu1089=)
c.3282G>C (p.Leu1094=)
c.3384G>C (p.Leu1128=)
21g.32645755C>TCA512144676SYNJ1c.3399G>A (p.Leu1133=)
c.3267G>A (p.Leu1089=)
c.3282G>A (p.Leu1094=)
c.3384G>A (p.Leu1128=)
 dbSNP gnomAD v2 gnomAD v4
21g.32645756A=CA2386320900SYNJ1c.3398T= (p.Leu1133=)
c.3266T= (p.Leu1089=)
c.3281T= (p.Leu1094=)
c.3383T= (p.Leu1128=)
21g.32645756A>CCA410068477SYNJ1c.3398T>G (p.Leu1133Arg)
c.3266T>G (p.Leu1089Arg)
c.3281T>G (p.Leu1094Arg)
c.3383T>G (p.Leu1128Arg)
 dbSNP gnomAD v3 gnomAD v4
21g.32645756A>GCA410068479SYNJ1c.3398T>C (p.Leu1133Pro)
c.3266T>C (p.Leu1089Pro)
c.3281T>C (p.Leu1094Pro)
c.3383T>C (p.Leu1128Pro)
21g.32645756A>TCA410068481SYNJ1c.3398T>A (p.Leu1133Gln)
c.3266T>A (p.Leu1089Gln)
c.3281T>A (p.Leu1094Gln)
c.3383T>A (p.Leu1128Gln)
21g.32645757G>ACA512144679SYNJ1c.3397C>T (p.Leu1133=)
c.3265C>T (p.Leu1089=)
c.3280C>T (p.Leu1094=)
c.3382C>T (p.Leu1128=)
 gnomAD v4
21g.32645757G>CCA410068483SYNJ1c.3397C>G (p.Leu1133Val)
c.3265C>G (p.Leu1089Val)
c.3280C>G (p.Leu1094Val)
c.3382C>G (p.Leu1128Val)
21g.32645757G>TCA410068486SYNJ1c.3397C>A (p.Leu1133Met)
c.3265C>A (p.Leu1089Met)
c.3280C>A (p.Leu1094Met)
c.3382C>A (p.Leu1128Met)
21g.32645760_32645762dupCA2580616372SYNJ1c.3395_3397dup (p.Pro1132_Leu1133insPro)
c.3263_3265dup (p.Pro1088_Leu1089insPro)
c.3278_3280dup (p.Pro1093_Leu1094insPro)
c.3380_3382dup (p.Pro1127_Leu1128insPro)
 ClinVar dbSNP
21g.32645758C>ACA512144682SYNJ1c.3396G>T (p.Pro1132=)
c.3264G>T (p.Pro1088=)
c.3279G>T (p.Pro1093=)
c.3381G>T (p.Pro1127=)
21g.32645758C=CA2386320901SYNJ1c.3396G= (p.Pro1132=)
c.3264G= (p.Pro1088=)
c.3279G= (p.Pro1093=)
c.3381G= (p.Pro1127=)
21g.32645758C>GCA512144680SYNJ1c.3396G>C (p.Pro1132=)
c.3264G>C (p.Pro1088=)
c.3279G>C (p.Pro1093=)
c.3381G>C (p.Pro1127=)
21g.32645758C>TCA512144681SYNJ1c.3396G>A (p.Pro1132=)
c.3264G>A (p.Pro1088=)
c.3279G>A (p.Pro1093=)
c.3381G>A (p.Pro1127=)
 dbSNP gnomAD v3 gnomAD v4
21g.32645759G>ACA410068489SYNJ1c.3395C>T (p.Pro1132Leu)
c.3263C>T (p.Pro1088Leu)
c.3278C>T (p.Pro1093Leu)
c.3380C>T (p.Pro1127Leu)
 ClinVar dbSNP gnomAD v4
21g.32645759G>CCA410068487SYNJ1c.3395C>G (p.Pro1132Arg)
c.3263C>G (p.Pro1088Arg)
c.3278C>G (p.Pro1093Arg)
c.3380C>G (p.Pro1127Arg)
21g.32645759G=CA2386320902SYNJ1c.3395C= (p.Pro1132=)
c.3263C= (p.Pro1088=)
c.3278C= (p.Pro1093=)
c.3380C= (p.Pro1127=)
21g.32645759G>TCA410068488SYNJ1c.3395C>A (p.Pro1132Gln)
c.3263C>A (p.Pro1088Gln)
c.3278C>A (p.Pro1093Gln)
c.3380C>A (p.Pro1127Gln)
 gnomAD v4
21g.32645760G>ACA410068493SYNJ1c.3394C>T (p.Pro1132Ser)
c.3262C>T (p.Pro1088Ser)
c.3277C>T (p.Pro1093Ser)
c.3379C>T (p.Pro1127Ser)
 gnomAD v4
21g.32645760G>CCA410068494SYNJ1c.3394C>G (p.Pro1132Ala)
c.3262C>G (p.Pro1088Ala)
c.3277C>G (p.Pro1093Ala)
c.3379C>G (p.Pro1127Ala)
21g.32645760G>TCA410068495SYNJ1c.3394C>A (p.Pro1132Thr)
c.3262C>A (p.Pro1088Thr)
c.3277C>A (p.Pro1093Thr)
c.3379C>A (p.Pro1127Thr)
21g.32645761C>ACA512144693SYNJ1c.3393G>T (p.Thr1131=)
c.3261G>T (p.Thr1087=)
c.3276G>T (p.Thr1092=)
c.3378G>T (p.Thr1126=)
21g.32645761C=CA2386320903SYNJ1c.3393G= (p.Thr1131=)
c.3261G= (p.Thr1087=)
c.3276G= (p.Thr1092=)
c.3378G= (p.Thr1126=)
21g.32645761C>GCA512144691SYNJ1c.3393G>C (p.Thr1131=)
c.3261G>C (p.Thr1087=)
c.3276G>C (p.Thr1092=)
c.3378G>C (p.Thr1126=)
21g.32645761C>TCA512144692SYNJ1c.3393G>A (p.Thr1131=)
c.3261G>A (p.Thr1087=)
c.3276G>A (p.Thr1092=)
c.3378G>A (p.Thr1126=)
 dbSNP gnomAD v3 gnomAD v4
21g.32645762G>ACA410068497SYNJ1c.3392C>T (p.Thr1131Met)
c.3260C>T (p.Thr1087Met)
c.3275C>T (p.Thr1092Met)
c.3377C>T (p.Thr1126Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645762G>CCA410068498SYNJ1c.3392C>G (p.Thr1131Arg)
c.3260C>G (p.Thr1087Arg)
c.3275C>G (p.Thr1092Arg)
c.3377C>G (p.Thr1126Arg)
21g.32645762G=CA2386320904SYNJ1c.3392C= (p.Thr1131=)
c.3260C= (p.Thr1087=)
c.3275C= (p.Thr1092=)
c.3377C= (p.Thr1126=)
21g.32645762G>TCA410068499SYNJ1c.3392C>A (p.Thr1131Lys)
c.3260C>A (p.Thr1087Lys)
c.3275C>A (p.Thr1092Lys)
c.3377C>A (p.Thr1126Lys)
21g.32645763T>ACA410068502SYNJ1c.3391A>T (p.Thr1131Ser)
c.3259A>T (p.Thr1087Ser)
c.3274A>T (p.Thr1092Ser)
c.3376A>T (p.Thr1126Ser)
21g.32645763T>CCA410068504SYNJ1c.3391A>G (p.Thr1131Ala)
c.3259A>G (p.Thr1087Ala)
c.3274A>G (p.Thr1092Ala)
c.3376A>G (p.Thr1126Ala)
 gnomAD v4
21g.32645763T>GCA410068507SYNJ1c.3391A>C (p.Thr1131Pro)
c.3259A>C (p.Thr1087Pro)
c.3274A>C (p.Thr1092Pro)
c.3376A>C (p.Thr1126Pro)
21g.32645764T>ACA512144703SYNJ1c.3390A>T (p.Ala1130=)
c.3258A>T (p.Ala1086=)
c.3273A>T (p.Ala1091=)
c.3375A>T (p.Ala1125=)
21g.32645764T>CCA512144701SYNJ1c.3390A>G (p.Ala1130=)
c.3258A>G (p.Ala1086=)
c.3273A>G (p.Ala1091=)
c.3375A>G (p.Ala1125=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32645764T>GCA512144700SYNJ1c.3390A>C (p.Ala1130=)
c.3258A>C (p.Ala1086=)
c.3273A>C (p.Ala1091=)
c.3375A>C (p.Ala1125=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.32645764T=CA2386320905SYNJ1c.3390A= (p.Ala1130=)
c.3258A= (p.Ala1086=)
c.3273A= (p.Ala1091=)
c.3375A= (p.Ala1125=)
21g.32645765G>ACA410068510SYNJ1c.3389C>T (p.Ala1130Val)
c.3257C>T (p.Ala1086Val)
c.3272C>T (p.Ala1091Val)
c.3374C>T (p.Ala1125Val)
 gnomAD v4
21g.32645765G>CCA410068512SYNJ1c.3389C>G (p.Ala1130Gly)
c.3257C>G (p.Ala1086Gly)
c.3272C>G (p.Ala1091Gly)
c.3374C>G (p.Ala1125Gly)
21g.32645765G>TCA410068513SYNJ1c.3389C>A (p.Ala1130Glu)
c.3257C>A (p.Ala1086Glu)
c.3272C>A (p.Ala1091Glu)
c.3374C>A (p.Ala1125Glu)
 COSMIC COSMIC
21g.32645766C>ACA410068515SYNJ1c.3388G>T (p.Ala1130Ser)
c.3256G>T (p.Ala1086Ser)
c.3271G>T (p.Ala1091Ser)
c.3373G>T (p.Ala1125Ser)
21g.32645766C>GCA410068519SYNJ1c.3388G>C (p.Ala1130Pro)
c.3256G>C (p.Ala1086Pro)
c.3271G>C (p.Ala1091Pro)
c.3373G>C (p.Ala1125Pro)
21g.32645766C>TCA410068517SYNJ1c.3388G>A (p.Ala1130Thr)
c.3256G>A (p.Ala1086Thr)
c.3271G>A (p.Ala1091Thr)
c.3373G>A (p.Ala1125Thr)
21g.32645767T>ACA512144712SYNJ1c.3387A>T (p.Pro1129=)
c.3255A>T (p.Pro1085=)
c.3270A>T (p.Pro1090=)
c.3372A>T (p.Pro1124=)
21g.32645767T>CCA512144711SYNJ1c.3387A>G (p.Pro1129=)
c.3255A>G (p.Pro1085=)
c.3270A>G (p.Pro1090=)
c.3372A>G (p.Pro1124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645767T>GCA512144709SYNJ1c.3387A>C (p.Pro1129=)
c.3255A>C (p.Pro1085=)
c.3270A>C (p.Pro1090=)
c.3372A>C (p.Pro1124=)
 ClinVar dbSNP gnomAD v4
21g.32645767T=CA2386320906SYNJ1c.3387A= (p.Pro1129=)
c.3255A= (p.Pro1085=)
c.3270A= (p.Pro1090=)
c.3372A= (p.Pro1124=)
21g.32645768G>ACA410068522SYNJ1c.3386C>T (p.Pro1129Leu)
c.3254C>T (p.Pro1085Leu)
c.3269C>T (p.Pro1090Leu)
c.3371C>T (p.Pro1124Leu)
21g.32645768G>CCA410068523SYNJ1c.3386C>G (p.Pro1129Arg)
c.3254C>G (p.Pro1085Arg)
c.3269C>G (p.Pro1090Arg)
c.3371C>G (p.Pro1124Arg)
21g.32645768G=CA2386320907SYNJ1c.3386C= (p.Pro1129=)
c.3254C= (p.Pro1085=)
c.3269C= (p.Pro1090=)
c.3371C= (p.Pro1124=)
21g.32645768G>TCA410068526SYNJ1c.3386C>A (p.Pro1129Gln)
c.3254C>A (p.Pro1085Gln)
c.3269C>A (p.Pro1090Gln)
c.3371C>A (p.Pro1124Gln)
 dbSNP gnomAD v4
21g.32645769G>ACA410068528SYNJ1c.3385C>T (p.Pro1129Ser)
c.3253C>T (p.Pro1085Ser)
c.3268C>T (p.Pro1090Ser)
c.3370C>T (p.Pro1124Ser)
 dbSNP gnomAD v2 gnomAD v4
21g.32645769G>CCA410068531SYNJ1c.3385C>G (p.Pro1129Ala)
c.3253C>G (p.Pro1085Ala)
c.3268C>G (p.Pro1090Ala)
c.3370C>G (p.Pro1124Ala)
21g.32645769G=CA2386320908SYNJ1c.3385C= (p.Pro1129=)
c.3253C= (p.Pro1085=)
c.3268C= (p.Pro1090=)
c.3370C= (p.Pro1124=)
21g.32645769G>TCA410068533SYNJ1c.3385C>A (p.Pro1129Thr)
c.3253C>A (p.Pro1085Thr)
c.3268C>A (p.Pro1090Thr)
c.3370C>A (p.Pro1124Thr)
 gnomAD v4
21g.32645770C>ACA410068539SYNJ1c.3384G>T (p.Gln1128His)
c.3252G>T (p.Gln1084His)
c.3267G>T (p.Gln1089His)
c.3369G>T (p.Gln1123His)
 gnomAD v4
21g.32645770C>GCA410068542SYNJ1c.3384G>C (p.Gln1128His)
c.3252G>C (p.Gln1084His)
c.3267G>C (p.Gln1089His)
c.3369G>C (p.Gln1123His)
 gnomAD v4
21g.32645770C>TCA512144718SYNJ1c.3384G>A (p.Gln1128=)
c.3252G>A (p.Gln1084=)
c.3267G>A (p.Gln1089=)
c.3369G>A (p.Gln1123=)
21g.32645771T>ACA410068545SYNJ1c.3383A>T (p.Gln1128Leu)
c.3251A>T (p.Gln1084Leu)
c.3266A>T (p.Gln1089Leu)
c.3368A>T (p.Gln1123Leu)
21g.32645771T>CCA10003453SYNJ1c.3383A>G (p.Gln1128Arg)
c.3251A>G (p.Gln1084Arg)
c.3266A>G (p.Gln1089Arg)
c.3368A>G (p.Gln1123Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.32645771T>GCA410068546SYNJ1c.3383A>C (p.Gln1128Pro)
c.3251A>C (p.Gln1084Pro)
c.3266A>C (p.Gln1089Pro)
c.3368A>C (p.Gln1123Pro)
 gnomAD v4
21g.32645771T=CA2386320909SYNJ1c.3383A= (p.Gln1128=)
c.3251A= (p.Gln1084=)
c.3266A= (p.Gln1089=)
c.3368A= (p.Gln1123=)
21g.32645772G>ACA410068556SYNJ1c.3382C>T (p.Gln1128Ter)
c.3250C>T (p.Gln1084Ter)
c.3265C>T (p.Gln1089Ter)
c.3367C>T (p.Gln1123Ter)
21g.32645772G>CCA410068548SYNJ1c.3382C>G (p.Gln1128Glu)
c.3250C>G (p.Gln1084Glu)
c.3265C>G (p.Gln1089Glu)
c.3367C>G (p.Gln1123Glu)
 gnomAD v4
21g.32645772G>TCA410068554SYNJ1c.3382C>A (p.Gln1128Lys)
c.3250C>A (p.Gln1084Lys)
c.3265C>A (p.Gln1089Lys)
c.3367C>A (p.Gln1123Lys)
21g.32645773C>ACA512144727SYNJ1c.3381G>T (p.Ala1127=)
c.3249G>T (p.Ala1083=)
c.3264G>T (p.Ala1088=)
c.3366G>T (p.Ala1122=)
 ClinVar dbSNP gnomAD v4
21g.32645773C=CA2386320910SYNJ1c.3381G= (p.Ala1127=)
c.3249G= (p.Ala1083=)
c.3264G= (p.Ala1088=)
c.3366G= (p.Ala1122=)
21g.32645773C>GCA512144729SYNJ1c.3381G>C (p.Ala1127=)
c.3249G>C (p.Ala1083=)
c.3264G>C (p.Ala1088=)
c.3366G>C (p.Ala1122=)
21g.32645773C>TCA512144726SYNJ1c.3381G>A (p.Ala1127=)
c.3249G>A (p.Ala1083=)
c.3264G>A (p.Ala1088=)
c.3366G>A (p.Ala1122=)
 gnomAD v4
21g.32645774G>ACA410068557SYNJ1c.3380C>T (p.Ala1127Val)
c.3248C>T (p.Ala1083Val)
c.3263C>T (p.Ala1088Val)
c.3365C>T (p.Ala1122Val)
 gnomAD v4
21g.32645774G>CCA410068558SYNJ1c.3380C>G (p.Ala1127Gly)
c.3248C>G (p.Ala1083Gly)
c.3263C>G (p.Ala1088Gly)
c.3365C>G (p.Ala1122Gly)
 ClinVar dbSNP gnomAD v2
21g.32645774G=CA2386320911SYNJ1c.3380C= (p.Ala1127=)
c.3248C= (p.Ala1083=)
c.3263C= (p.Ala1088=)
c.3365C= (p.Ala1122=)
21g.32645774G>TCA410068560SYNJ1c.3380C>A (p.Ala1127Glu)
c.3248C>A (p.Ala1083Glu)
c.3263C>A (p.Ala1088Glu)
c.3365C>A (p.Ala1122Glu)
 gnomAD v4
21g.32645775C>ACA410068563SYNJ1c.3379G>T (p.Ala1127Ser)
c.3247G>T (p.Ala1083Ser)
c.3262G>T (p.Ala1088Ser)
c.3364G>T (p.Ala1122Ser)
 gnomAD v4
21g.32645775C=CA2386320912SYNJ1c.3379G= (p.Ala1127=)
c.3247G= (p.Ala1083=)
c.3262G= (p.Ala1088=)
c.3364G= (p.Ala1122=)
21g.32645775C>GCA410068564SYNJ1c.3379G>C (p.Ala1127Pro)
c.3247G>C (p.Ala1083Pro)
c.3262G>C (p.Ala1088Pro)
c.3364G>C (p.Ala1122Pro)
 gnomAD v4
21g.32645775C>TCA410068565SYNJ1c.3379G>A (p.Ala1127Thr)
c.3247G>A (p.Ala1083Thr)
c.3262G>A (p.Ala1088Thr)
c.3364G>A (p.Ala1122Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32645776G>ACA319422851SYNJ1c.3378C>T (p.Asp1126=)
c.3246C>T (p.Asp1082=)
c.3261C>T (p.Asp1087=)
c.3363C>T (p.Asp1121=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
21g.32645776G>CCA410068567SYNJ1c.3378C>G (p.Asp1126Glu)
c.3246C>G (p.Asp1082Glu)
c.3261C>G (p.Asp1087Glu)
c.3363C>G (p.Asp1121Glu)
21g.32645776G=CA2386320913SYNJ1c.3378C= (p.Asp1126=)
c.3246C= (p.Asp1082=)
c.3261C= (p.Asp1087=)
c.3363C= (p.Asp1121=)
21g.32645776G>TCA410068569SYNJ1c.3378C>A (p.Asp1126Glu)
c.3246C>A (p.Asp1082Glu)
c.3261C>A (p.Asp1087Glu)
c.3363C>A (p.Asp1121Glu)
 gnomAD v4
21g.32645777T>ACA410068570SYNJ1c.3377A>T (p.Asp1126Val)
c.3245A>T (p.Asp1082Val)
c.3260A>T (p.Asp1087Val)
c.3362A>T (p.Asp1121Val)
21g.32645777T>CCA410068571SYNJ1c.3377A>G (p.Asp1126Gly)
c.3245A>G (p.Asp1082Gly)
c.3260A>G (p.Asp1087Gly)
c.3362A>G (p.Asp1121Gly)
21g.32645777T>GCA410068573SYNJ1c.3377A>C (p.Asp1126Ala)
c.3245A>C (p.Asp1082Ala)
c.3260A>C (p.Asp1087Ala)
c.3362A>C (p.Asp1121Ala)
21g.32645778C>ACA410068579SYNJ1c.3376G>T (p.Asp1126Tyr)
c.3244G>T (p.Asp1082Tyr)
c.3259G>T (p.Asp1087Tyr)
c.3361G>T (p.Asp1121Tyr)
21g.32645778C>GCA410068581SYNJ1c.3376G>C (p.Asp1126His)
c.3244G>C (p.Asp1082His)
c.3259G>C (p.Asp1087His)
c.3361G>C (p.Asp1121His)
21g.32645778C>TCA410068577SYNJ1c.3376G>A (p.Asp1126Asn)
c.3244G>A (p.Asp1082Asn)
c.3259G>A (p.Asp1087Asn)
c.3361G>A (p.Asp1121Asn)
21g.32645779A>CCA410068583SYNJ1c.3375T>G (p.Ile1125Met)
c.3243T>G (p.Ile1081Met)
c.3258T>G (p.Ile1086Met)
c.3360T>G (p.Ile1120Met)
21g.32645779A>GCA512144744SYNJ1c.3375T>C (p.Ile1125=)
c.3243T>C (p.Ile1081=)
c.3258T>C (p.Ile1086=)
c.3360T>C (p.Ile1120=)
21g.32645779A>TCA512144745SYNJ1c.3375T>A (p.Ile1125=)
c.3243T>A (p.Ile1081=)
c.3258T>A (p.Ile1086=)
c.3360T>A (p.Ile1120=)
21g.32645780A>CCA410068592SYNJ1c.3374T>G (p.Ile1125Ser)
c.3242T>G (p.Ile1081Ser)
c.3257T>G (p.Ile1086Ser)
c.3359T>G (p.Ile1120Ser)
21g.32645780A>GCA410068607SYNJ1c.3374T>C (p.Ile1125Thr)
c.3242T>C (p.Ile1081Thr)
c.3257T>C (p.Ile1086Thr)
c.3359T>C (p.Ile1120Thr)
 ClinVar gnomAD v4
21g.32645780A>TCA410068610SYNJ1c.3374T>A (p.Ile1125Asn)
c.3242T>A (p.Ile1081Asn)
c.3257T>A (p.Ile1086Asn)
c.3359T>A (p.Ile1120Asn)
21g.32645781T>ACA410068616SYNJ1c.3373A>T (p.Ile1125Phe)
c.3241A>T (p.Ile1081Phe)
c.3256A>T (p.Ile1086Phe)
c.3358A>T (p.Ile1120Phe)
 dbSNP gnomAD v4
21g.32645781T>CCA410068621SYNJ1c.3373A>G (p.Ile1125Val)
c.3241A>G (p.Ile1081Val)
c.3256A>G (p.Ile1086Val)
c.3358A>G (p.Ile1120Val)
 dbSNP gnomAD v3 gnomAD v4
21g.32645781T>GCA410068624SYNJ1c.3373A>C (p.Ile1125Leu)
c.3241A>C (p.Ile1081Leu)
c.3256A>C (p.Ile1086Leu)
c.3358A>C (p.Ile1120Leu)
21g.32645781T=CA2386320914SYNJ1c.3373A= (p.Ile1125=)
c.3241A= (p.Ile1081=)
c.3256A= (p.Ile1086=)
c.3358A= (p.Ile1120=)
21g.32645782A>CCA512144758SYNJ1c.3372T>G (p.Pro1124=)
c.3240T>G (p.Pro1080=)
c.3255T>G (p.Pro1085=)
c.3357T>G (p.Pro1119=)
21g.32645782A>GCA512144756SYNJ1c.3372T>C (p.Pro1124=)
c.3240T>C (p.Pro1080=)
c.3255T>C (p.Pro1085=)
c.3357T>C (p.Pro1119=)
21g.32645782A>TCA512144754SYNJ1c.3372T>A (p.Pro1124=)
c.3240T>A (p.Pro1080=)
c.3255T>A (p.Pro1085=)
c.3357T>A (p.Pro1119=)
21g.32645784_32645786delCA2577476209SYNJ1c.3370_3372del (p.Pro1124del)
c.3238_3240del (p.Pro1080del)
c.3253_3255del (p.Pro1085del)
c.3355_3357del (p.Pro1119del)
 gnomAD v4
21g.32645783G>ACA410068635SYNJ1c.3371C>T (p.Pro1124Leu)
c.3239C>T (p.Pro1080Leu)
c.3254C>T (p.Pro1085Leu)
c.3356C>T (p.Pro1119Leu)
 gnomAD v4
21g.32645783G>CCA410068639SYNJ1c.3371C>G (p.Pro1124Arg)
c.3239C>G (p.Pro1080Arg)
c.3254C>G (p.Pro1085Arg)
c.3356C>G (p.Pro1119Arg)
21g.32645783G>TCA410068641SYNJ1c.3371C>A (p.Pro1124His)
c.3239C>A (p.Pro1080His)
c.3254C>A (p.Pro1085His)
c.3356C>A (p.Pro1119His)
 gnomAD v4
21g.32645784G>ACA410068645SYNJ1c.3370C>T (p.Pro1124Ser)
c.3238C>T (p.Pro1080Ser)
c.3253C>T (p.Pro1085Ser)
c.3355C>T (p.Pro1119Ser)
21g.32645784G>CCA410068648SYNJ1c.3370C>G (p.Pro1124Ala)
c.3238C>G (p.Pro1080Ala)
c.3253C>G (p.Pro1085Ala)
c.3355C>G (p.Pro1119Ala)
21g.32645784G>TCA410068650SYNJ1c.3370C>A (p.Pro1124Thr)
c.3238C>A (p.Pro1080Thr)
c.3253C>A (p.Pro1085Thr)
c.3355C>A (p.Pro1119Thr)
 gnomAD v4
21g.32645785A=CA2386320915SYNJ1c.3369T= (p.Ser1123=)
c.3237T= (p.Ser1079=)
c.3252T= (p.Ser1084=)
c.3354T= (p.Ser1118=)
21g.32645785A>CCA319422854SYNJ1c.3369T>G (p.Ser1123=)
c.3237T>G (p.Ser1079=)
c.3252T>G (p.Ser1084=)
c.3354T>G (p.Ser1118=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645785A>GCA512144766SYNJ1c.3369T>C (p.Ser1123=)
c.3237T>C (p.Ser1079=)
c.3252T>C (p.Ser1084=)
c.3354T>C (p.Ser1118=)
 gnomAD v4
21g.32645785A>TCA512144770SYNJ1c.3369T>A (p.Ser1123=)
c.3237T>A (p.Ser1079=)
c.3252T>A (p.Ser1084=)
c.3354T>A (p.Ser1118=)
 dbSNP gnomAD v3 gnomAD v4
21g.32645786G>ACA410068658SYNJ1c.3368C>T (p.Ser1123Phe)
c.3236C>T (p.Ser1079Phe)
c.3251C>T (p.Ser1084Phe)
c.3353C>T (p.Ser1118Phe)
 dbSNP
21g.32645786G>CCA410068654SYNJ1c.3368C>G (p.Ser1123Cys)
c.3236C>G (p.Ser1079Cys)
c.3251C>G (p.Ser1084Cys)
c.3353C>G (p.Ser1118Cys)
21g.32645786G=CA2386320916SYNJ1c.3368C= (p.Ser1123=)
c.3236C= (p.Ser1079=)
c.3251C= (p.Ser1084=)
c.3353C= (p.Ser1118=)
21g.32645786G>TCA410068657SYNJ1c.3368C>A (p.Ser1123Tyr)
c.3236C>A (p.Ser1079Tyr)
c.3251C>A (p.Ser1084Tyr)
c.3353C>A (p.Ser1118Tyr)
 gnomAD v4 COSMIC COSMIC
21g.32645787A>CCA410068660SYNJ1c.3367T>G (p.Ser1123Ala)
c.3235T>G (p.Ser1079Ala)
c.3250T>G (p.Ser1084Ala)
c.3352T>G (p.Ser1118Ala)
21g.32645787A>GCA410068663SYNJ1c.3367T>C (p.Ser1123Pro)
c.3235T>C (p.Ser1079Pro)
c.3250T>C (p.Ser1084Pro)
c.3352T>C (p.Ser1118Pro)
21g.32645787A>TCA410068665SYNJ1c.3367T>A (p.Ser1123Thr)
c.3235T>A (p.Ser1079Thr)
c.3250T>A (p.Ser1084Thr)
c.3352T>A (p.Ser1118Thr)
21g.32645788A=CA2386320917SYNJ1c.3366T= (p.Ser1122=)
c.3234T= (p.Ser1078=)
c.3249T= (p.Ser1083=)
c.3351T= (p.Ser1117=)
21g.32645788A>CCA410068671SYNJ1c.3366T>G (p.Ser1122Arg)
c.3234T>G (p.Ser1078Arg)
c.3249T>G (p.Ser1083Arg)
c.3351T>G (p.Ser1117Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32645788A>GCA512144780SYNJ1c.3366T>C (p.Ser1122=)
c.3234T>C (p.Ser1078=)
c.3249T>C (p.Ser1083=)
c.3351T>C (p.Ser1117=)
21g.32645788A>TCA410068677SYNJ1c.3366T>A (p.Ser1122Arg)
c.3234T>A (p.Ser1078Arg)
c.3249T>A (p.Ser1083Arg)
c.3351T>A (p.Ser1117Arg)
21g.32645789C>ACA410068685SYNJ1c.3365G>T (p.Ser1122Ile)
c.3233G>T (p.Ser1078Ile)
c.3248G>T (p.Ser1083Ile)
c.3350G>T (p.Ser1117Ile)
 gnomAD v4
21g.32645789C=CA2386320918SYNJ1c.3365G= (p.Ser1122=)
c.3233G= (p.Ser1078=)
c.3248G= (p.Ser1083=)
c.3350G= (p.Ser1117=)
21g.32645789C>GCA410068687SYNJ1c.3365G>C (p.Ser1122Thr)
c.3233G>C (p.Ser1078Thr)
c.3248G>C (p.Ser1083Thr)
c.3350G>C (p.Ser1117Thr)
21g.32645789C>TCA410068688SYNJ1c.3365G>A (p.Ser1122Asn)
c.3233G>A (p.Ser1078Asn)
c.3248G>A (p.Ser1083Asn)
c.3350G>A (p.Ser1117Asn)
 dbSNP gnomAD v4
21g.32645790C>ACA410068692SYNJ1c.3365-1G>T (n.3365-1G>T)
c.3233-1G>T (n.3233-1G>T)
c.3248-1G>T (n.3248-1G>T)
c.3350-1G>T (n.3350-1G>T)
21g.32645790C>GCA410068695SYNJ1c.3365-1G>C (n.3365-1G>C)
c.3233-1G>C (n.3233-1G>C)
c.3248-1G>C (n.3248-1G>C)
c.3350-1G>C (n.3350-1G>C)
21g.32645790C>TCA410068697SYNJ1c.3365-1G>A (n.3365-1G>A)
c.3233-1G>A (n.3233-1G>A)
c.3248-1G>A (n.3248-1G>A)
c.3350-1G>A (n.3350-1G>A)
21g.32645791T>ACA410068703SYNJ1c.3365-2A>T (n.3365-2A>T)
c.3233-2A>T (n.3233-2A>T)
c.3248-2A>T (n.3248-2A>T)
c.3350-2A>T (n.3350-2A>T)
21g.32645791T>CCA16609239SYNJ1c.3365-2A>G (n.3365-2A>G)
c.3233-2A>G (n.3233-2A>G)
c.3248-2A>G (n.3248-2A>G)
c.3350-2A>G (n.3350-2A>G)
 ClinVar dbSNP gnomAD v4
21g.32645791T>GCA410068700SYNJ1c.3365-2A>C (n.3365-2A>C)
c.3233-2A>C (n.3233-2A>C)
c.3248-2A>C (n.3248-2A>C)
c.3350-2A>C (n.3350-2A>C)
21g.32645791T=CA2386320919SYNJ1c.3365-2A= (n.3365-2A=)
c.3233-2A= (n.3233-2A=)
c.3248-2A= (n.3248-2A=)
c.3350-2A= (n.3350-2A=)
21g.32645792A>GCA2817728508SYNJ1c.3365-3T>C (n.3365-3T>C)
c.3233-3T>C (n.3233-3T>C)
c.3248-3T>C (n.3248-3T>C)
c.3350-3T>C (n.3350-3T>C)
21g.32645796dupCA2654267050SYNJ1c.3365-3dup (n.3365-3dup)
c.3233-3dup (n.3233-3dup)
c.3248-3dup (n.3248-3dup)
c.3350-3dup (n.3350-3dup)
 gnomAD v4
21g.32645796delCA2654267051SYNJ1c.3365-3del (n.3365-3del)
c.3233-3del (n.3233-3del)
c.3248-3del (n.3248-3del)
c.3350-3del (n.3350-3del)
 gnomAD v4
21g.32645793A=CA2386320920SYNJ1c.3365-4T= (n.3365-4T=)
c.3233-4T= (n.3233-4T=)
c.3248-4T= (n.3248-4T=)
c.3350-4T= (n.3350-4T=)
21g.32645793A>GCA637642774SYNJ1c.3365-4T>C (n.3365-4T>C)
c.3233-4T>C (n.3233-4T>C)
c.3248-4T>C (n.3248-4T>C)
c.3350-4T>C (n.3350-4T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645795A=CA2386320921SYNJ1c.3365-6T= (n.3365-6T=)
c.3233-6T= (n.3233-6T=)
c.3248-6T= (n.3248-6T=)
c.3350-6T= (n.3350-6T=)
21g.32645795A>CCA319422857SYNJ1c.3365-6T>G (n.3365-6T>G)
c.3233-6T>G (n.3233-6T>G)
c.3248-6T>G (n.3248-6T>G)
c.3350-6T>G (n.3350-6T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645795A>GCA10003454SYNJ1c.3365-6T>C (n.3365-6T>C)
c.3233-6T>C (n.3233-6T>C)
c.3248-6T>C (n.3248-6T>C)
c.3350-6T>C (n.3350-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32645797G>TCA2654267052SYNJ1c.3365-8C>A (n.3365-8C>A)
c.3233-8C>A (n.3233-8C>A)
c.3248-8C>A (n.3248-8C>A)
c.3350-8C>A (n.3350-8C>A)
 gnomAD v4
21g.32645798C>ACA2654267053SYNJ1c.3365-9G>T (n.3365-9G>T)
c.3233-9G>T (n.3233-9G>T)
c.3248-9G>T (n.3248-9G>T)
c.3350-9G>T (n.3350-9G>T)
 gnomAD v4
21g.32645798C=CA2386320922SYNJ1c.3365-9G= (n.3365-9G=)
c.3233-9G= (n.3233-9G=)
c.3248-9G= (n.3248-9G=)
c.3350-9G= (n.3350-9G=)
21g.32645798C>GCA1021878857SYNJ1c.3365-9G>C (n.3365-9G>C)
c.3233-9G>C (n.3233-9G>C)
c.3248-9G>C (n.3248-9G>C)
c.3350-9G>C (n.3350-9G>C)
 dbSNP gnomAD v3 gnomAD v4
21g.32645798C>TCA1021878854SYNJ1c.3365-9G>A (n.3365-9G>A)
c.3233-9G>A (n.3233-9G>A)
c.3248-9G>A (n.3248-9G>A)
c.3350-9G>A (n.3350-9G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.32645799G>ACA2654267054SYNJ1c.3365-10C>T (n.3365-10C>T)
c.3233-10C>T (n.3233-10C>T)
c.3248-10C>T (n.3248-10C>T)
c.3350-10C>T (n.3350-10C>T)
 gnomAD v4
21g.32645799G>CCA2737695411SYNJ1c.3365-10C>G (n.3365-10C>G)
c.3233-10C>G (n.3233-10C>G)
c.3248-10C>G (n.3248-10C>G)
c.3350-10C>G (n.3350-10C>G)
 dbSNP
21g.32645799G>TCA2654267055SYNJ1c.3365-10C>A (n.3365-10C>A)
c.3233-10C>A (n.3233-10C>A)
c.3248-10C>A (n.3248-10C>A)
c.3350-10C>A (n.3350-10C>A)
 gnomAD v4
21g.32645800_32645801delinsCACA2386320923SYNJ1c.3365-12_3365-11delinsTG (n.3365-12_3365-11delinsTG)
c.3233-12_3233-11delinsTG (n.3233-12_3233-11delinsTG)
c.3248-12_3248-11delinsTG (n.3248-12_3248-11delinsTG)
c.3350-12_3350-11delinsTG (n.3350-12_3350-11delinsTG)
21g.32645801delCA637642779SYNJ1c.3365-12del (n.3365-12del)
c.3233-12del (n.3233-12del)
c.3248-12del (n.3248-12del)
c.3350-12del (n.3350-12del)
 dbSNP gnomAD v2 gnomAD v4
21g.32645801A=CA2386320924SYNJ1c.3365-12T= (n.3365-12T=)
c.3233-12T= (n.3233-12T=)
c.3248-12T= (n.3248-12T=)
c.3350-12T= (n.3350-12T=)
21g.32645801A>CCA637642781SYNJ1c.3365-12T>G (n.3365-12T>G)
c.3233-12T>G (n.3233-12T>G)
c.3248-12T>G (n.3248-12T>G)
c.3350-12T>G (n.3350-12T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645801A>GCA2740094697SYNJ1c.3365-12T>C (n.3365-12T>C)
c.3233-12T>C (n.3233-12T>C)
c.3248-12T>C (n.3248-12T>C)
c.3350-12T>C (n.3350-12T>C)
 ClinVar
21g.32645801A>TCA2654267056SYNJ1c.3365-12T>A (n.3365-12T>A)
c.3233-12T>A (n.3233-12T>A)
c.3248-12T>A (n.3248-12T>A)
c.3350-12T>A (n.3350-12T>A)
 gnomAD v4
21g.32645802C>ACA2654267057SYNJ1c.3365-13G>T (n.3365-13G>T)
c.3233-13G>T (n.3233-13G>T)
c.3248-13G>T (n.3248-13G>T)
c.3350-13G>T (n.3350-13G>T)
 gnomAD v4
21g.32645802C=CA2386320925SYNJ1c.3365-13G= (n.3365-13G=)
c.3233-13G= (n.3233-13G=)
c.3248-13G= (n.3248-13G=)
c.3350-13G= (n.3350-13G=)
21g.32645802C>GCA748724220SYNJ1c.3365-13G>C (n.3365-13G>C)
c.3233-13G>C (n.3233-13G>C)
c.3248-13G>C (n.3248-13G>C)
c.3350-13G>C (n.3350-13G>C)
 dbSNP gnomAD v4
21g.32645802C>TCA2654267058SYNJ1c.3365-13G>A (n.3365-13G>A)
c.3233-13G>A (n.3233-13G>A)
c.3248-13G>A (n.3248-13G>A)
c.3350-13G>A (n.3350-13G>A)
 gnomAD v4
21g.32645802_32645805delinsCAGGCA2386320926SYNJ1c.3365-16_3365-13delinsCCTG (n.3365-16_3365-13delinsCCTG)
c.3233-16_3233-13delinsCCTG (n.3233-16_3233-13delinsCCTG)
c.3248-16_3248-13delinsCCTG (n.3248-16_3248-13delinsCCTG)
c.3350-16_3350-13delinsCCTG (n.3350-16_3350-13delinsCCTG)
21g.32645803A>GCA2654267059SYNJ1c.3365-14T>C (n.3365-14T>C)
c.3233-14T>C (n.3233-14T>C)
c.3248-14T>C (n.3248-14T>C)
c.3350-14T>C (n.3350-14T>C)
 gnomAD v4
21g.32645806_32645808delCA748724223SYNJ1c.3365-16_3365-14del (n.3365-16_3365-14del)
c.3233-16_3233-14del (n.3233-16_3233-14del)
c.3248-16_3248-14del (n.3248-16_3248-14del)
c.3350-16_3350-14del (n.3350-16_3350-14del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
21g.32645804G>ACA2737565229SYNJ1c.3365-15C>T (n.3365-15C>T)
c.3233-15C>T (n.3233-15C>T)
c.3248-15C>T (n.3248-15C>T)
c.3350-15C>T (n.3350-15C>T)
 dbSNP
21g.32645804G=CA2386320927SYNJ1c.3365-15C= (n.3365-15C=)
c.3233-15C= (n.3233-15C=)
c.3248-15C= (n.3248-15C=)
c.3350-15C= (n.3350-15C=)
21g.32645804G>TCA637642782SYNJ1c.3365-15C>A (n.3365-15C>A)
c.3233-15C>A (n.3233-15C>A)
c.3248-15C>A (n.3248-15C>A)
c.3350-15C>A (n.3350-15C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32645805G>TCA2654267060SYNJ1c.3365-16C>A (n.3365-16C>A)
c.3233-16C>A (n.3233-16C>A)
c.3248-16C>A (n.3248-16C>A)
c.3350-16C>A (n.3350-16C>A)
 gnomAD v4
21g.32645806A>TCA2654267061SYNJ1c.3365-17T>A (n.3365-17T>A)
c.3233-17T>A (n.3233-17T>A)
c.3248-17T>A (n.3248-17T>A)
c.3350-17T>A (n.3350-17T>A)
 gnomAD v4
21g.32645807G>ACA319422860SYNJ1c.3365-18C>T (n.3365-18C>T)
c.3233-18C>T (n.3233-18C>T)
c.3248-18C>T (n.3248-18C>T)
c.3350-18C>T (n.3350-18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32645807G>CCA2577476215SYNJ1c.3365-18C>G (n.3365-18C>G)
c.3233-18C>G (n.3233-18C>G)
c.3248-18C>G (n.3248-18C>G)
c.3350-18C>G (n.3350-18C>G)
 gnomAD v4
21g.32645807G=CA2386320929SYNJ1c.3365-18C= (n.3365-18C=)
c.3233-18C= (n.3233-18C=)
c.3248-18C= (n.3248-18C=)
c.3350-18C= (n.3350-18C=)
21g.32645807G>TCA2654267062SYNJ1c.3365-18C>A (n.3365-18C>A)
c.3233-18C>A (n.3233-18C>A)
c.3248-18C>A (n.3248-18C>A)
c.3350-18C>A (n.3350-18C>A)
 gnomAD v4
21g.32645807_32645810delinsGGTACA2386320928SYNJ1c.3365-21_3365-18delinsTACC (n.3365-21_3365-18delinsTACC)
c.3233-21_3233-18delinsTACC (n.3233-21_3233-18delinsTACC)
c.3248-21_3248-18delinsTACC (n.3248-21_3248-18delinsTACC)
c.3350-21_3350-18delinsTACC (n.3350-21_3350-18delinsTACC)

Number of alleles fetched