Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148131293_148131303delCA2675859806SPINK5c.2999_3009del (p.Pro1000LeufsTer13)
c.3089_3099del (p.Pro1030LeufsTer13)
c.3032_3042del (p.Pro1011LeufsTer13)
c.3005_3015del (p.Pro1002LeufsTer13)
 gnomAD v4
5g.148131303T>ACA3496222SPINK5c.3009T>A (p.Gly1003=)
c.3099T>A (p.Gly1033=)
c.3042T>A (p.Gly1014=)
c.3015T>A (p.Gly1005=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131303T>CCA3496221SPINK5c.3009T>C (p.Gly1003=)
c.3099T>C (p.Gly1033=)
c.3042T>C (p.Gly1014=)
c.3015T>C (p.Gly1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131303T>GCA446938284SPINK5c.3009T>G (p.Gly1003=)
c.3099T>G (p.Gly1033=)
c.3042T>G (p.Gly1014=)
c.3015T>G (p.Gly1005=)
 dbSNP
5g.148131303T=CA1589902903SPINK5c.3009T= (p.Gly1003=)
c.3099T= (p.Gly1033=)
c.3042T= (p.Gly1014=)
c.3015T= (p.Gly1005=)
5g.148131304T>ACA361652057SPINK5c.3010T>A (p.Tyr1004Asn)
c.3100T>A (p.Tyr1034Asn)
c.3043T>A (p.Tyr1015Asn)
c.3016T>A (p.Tyr1006Asn)
5g.148131304T>CCA361652058SPINK5c.3010T>C (p.Tyr1004His)
c.3100T>C (p.Tyr1034His)
c.3043T>C (p.Tyr1015His)
c.3016T>C (p.Tyr1006His)
 gnomAD v4
5g.148131304T>GCA361652061SPINK5c.3010T>G (p.Tyr1004Asp)
c.3100T>G (p.Tyr1034Asp)
c.3043T>G (p.Tyr1015Asp)
c.3016T>G (p.Tyr1006Asp)
5g.148131305A=CA1589902904SPINK5c.3011A= (p.Tyr1004=)
c.3101A= (p.Tyr1034=)
c.3044A= (p.Tyr1015=)
c.3017A= (p.Tyr1006=)
5g.148131305A>CCA361652064SPINK5c.3011A>C (p.Tyr1004Ser)
c.3101A>C (p.Tyr1034Ser)
c.3044A>C (p.Tyr1015Ser)
c.3017A>C (p.Tyr1006Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.148131305A>GCA128947193SPINK5c.3011A>G (p.Tyr1004Cys)
c.3101A>G (p.Tyr1034Cys)
c.3044A>G (p.Tyr1015Cys)
c.3017A>G (p.Tyr1006Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148131305A>TCA361652066SPINK5c.3011A>T (p.Tyr1004Phe)
c.3101A>T (p.Tyr1034Phe)
c.3044A>T (p.Tyr1015Phe)
c.3017A>T (p.Tyr1006Phe)
5g.148131306T>ACA361652069SPINK5c.3012T>A (p.Tyr1004Ter)
c.3102T>A (p.Tyr1034Ter)
c.3045T>A (p.Tyr1015Ter)
c.3018T>A (p.Tyr1006Ter)
5g.148131306T>CCA128947197SPINK5c.3012T>C (p.Tyr1004=)
c.3102T>C (p.Tyr1034=)
c.3045T>C (p.Tyr1015=)
c.3018T>C (p.Tyr1006=)
 dbSNP gnomAD v4
5g.148131306T>GCA361652071SPINK5c.3012T>G (p.Tyr1004Ter)
c.3102T>G (p.Tyr1034Ter)
c.3045T>G (p.Tyr1015Ter)
c.3018T>G (p.Tyr1006Ter)
5g.148131306T=CA1589902905SPINK5c.3012T= (p.Tyr1004=)
c.3102T= (p.Tyr1034=)
c.3045T= (p.Tyr1015=)
c.3018T= (p.Tyr1006=)
5g.148131307C>ACA361652073SPINK5c.3013C>A (p.Leu1005Ile)
c.3103C>A (p.Leu1035Ile)
c.3046C>A (p.Leu1016Ile)
c.3019C>A (p.Leu1007Ile)
5g.148131307C>GCA361652075SPINK5c.3013C>G (p.Leu1005Val)
c.3103C>G (p.Leu1035Val)
c.3046C>G (p.Leu1016Val)
c.3019C>G (p.Leu1007Val)
5g.148131307C>TCA361652077SPINK5c.3013C>T (p.Leu1005Phe)
c.3103C>T (p.Leu1035Phe)
c.3046C>T (p.Leu1016Phe)
c.3019C>T (p.Leu1007Phe)
 gnomAD v4
5g.148131308T>ACA361652080SPINK5c.3014T>A (p.Leu1005His)
c.3104T>A (p.Leu1035His)
c.3047T>A (p.Leu1016His)
c.3020T>A (p.Leu1007His)
5g.148131308T>CCA361652082SPINK5c.3014T>C (p.Leu1005Pro)
c.3104T>C (p.Leu1035Pro)
c.3047T>C (p.Leu1016Pro)
c.3020T>C (p.Leu1007Pro)
5g.148131308T>GCA361652079SPINK5c.3014T>G (p.Leu1005Arg)
c.3104T>G (p.Leu1035Arg)
c.3047T>G (p.Leu1016Arg)
c.3020T>G (p.Leu1007Arg)
5g.148131309T>ACA446938285SPINK5c.3015T>A (p.Leu1005=)
c.3105T>A (p.Leu1035=)
c.3048T>A (p.Leu1016=)
c.3021T>A (p.Leu1007=)
5g.148131309T>CCA446938286SPINK5c.3015T>C (p.Leu1005=)
c.3105T>C (p.Leu1035=)
c.3048T>C (p.Leu1016=)
c.3021T>C (p.Leu1007=)
5g.148131309T>GCA446938287SPINK5c.3015T>G (p.Leu1005=)
c.3105T>G (p.Leu1035=)
c.3048T>G (p.Leu1016=)
c.3021T>G (p.Leu1007=)
5g.148131310T>ACA361652085SPINK5c.3016T>A (p.Cys1006Ser)
c.3106T>A (p.Cys1036Ser)
c.3049T>A (p.Cys1017Ser)
c.3022T>A (p.Cys1008Ser)
5g.148131310T>CCA128947201SPINK5c.3016T>C (p.Cys1006Arg)
c.3106T>C (p.Cys1036Arg)
c.3049T>C (p.Cys1017Arg)
c.3022T>C (p.Cys1008Arg)
 ClinVar dbSNP gnomAD v4
5g.148131310T>GCA361652086SPINK5c.3016T>G (p.Cys1006Gly)
c.3106T>G (p.Cys1036Gly)
c.3049T>G (p.Cys1017Gly)
c.3022T>G (p.Cys1008Gly)
5g.148131310T=CA1589902906SPINK5c.3016T= (p.Cys1006=)
c.3106T= (p.Cys1036=)
c.3049T= (p.Cys1017=)
c.3022T= (p.Cys1008=)
5g.148131311G>ACA361652088SPINK5c.3017G>A (p.Cys1006Tyr)
c.3107G>A (p.Cys1036Tyr)
c.3050G>A (p.Cys1017Tyr)
c.3023G>A (p.Cys1008Tyr)
 gnomAD v4
5g.148131311G>CCA361652091SPINK5c.3017G>C (p.Cys1006Ser)
c.3107G>C (p.Cys1036Ser)
c.3050G>C (p.Cys1017Ser)
c.3023G>C (p.Cys1008Ser)
5g.148131311G=CA1589902907SPINK5c.3017G= (p.Cys1006=)
c.3107G= (p.Cys1036=)
c.3050G= (p.Cys1017=)
c.3023G= (p.Cys1008=)
5g.148131311G>TCA361652089SPINK5c.3017G>T (p.Cys1006Phe)
c.3107G>T (p.Cys1036Phe)
c.3050G>T (p.Cys1017Phe)
c.3023G>T (p.Cys1008Phe)
 dbSNP gnomAD v4
5g.148131312T>ACA3496223SPINK5c.3018T>A (p.Cys1006Ter)
c.3108T>A (p.Cys1036Ter)
c.3051T>A (p.Cys1017Ter)
c.3024T>A (p.Cys1008Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131312T>CCA446938288SPINK5c.3018T>C (p.Cys1006=)
c.3108T>C (p.Cys1036=)
c.3051T>C (p.Cys1017=)
c.3024T>C (p.Cys1008=)
5g.148131312T>GCA361652093SPINK5c.3018T>G (p.Cys1006Trp)
c.3108T>G (p.Cys1036Trp)
c.3051T>G (p.Cys1017Trp)
c.3024T>G (p.Cys1008Trp)
5g.148131312T=CA1589902908SPINK5c.3018T= (p.Cys1006=)
c.3108T= (p.Cys1036=)
c.3051T= (p.Cys1017=)
c.3024T= (p.Cys1008=)
5g.148131313C>ACA361652096SPINK5c.3019C>A (p.Pro1007Thr)
c.3109C>A (p.Pro1037Thr)
c.3052C>A (p.Pro1018Thr)
c.3025C>A (p.Pro1009Thr)
5g.148131313C=CA1589902909SPINK5c.3019C= (p.Pro1007=)
c.3109C= (p.Pro1037=)
c.3052C= (p.Pro1018=)
c.3025C= (p.Pro1009=)
5g.148131313C>GCA361652098SPINK5c.3019C>G (p.Pro1007Ala)
c.3109C>G (p.Pro1037Ala)
c.3052C>G (p.Pro1018Ala)
c.3025C>G (p.Pro1009Ala)
5g.148131313C>TCA361652100SPINK5c.3019C>T (p.Pro1007Ser)
c.3109C>T (p.Pro1037Ser)
c.3052C>T (p.Pro1018Ser)
c.3025C>T (p.Pro1009Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131314C>ACA361652103SPINK5c.3020C>A (p.Pro1007Gln)
c.3110C>A (p.Pro1037Gln)
c.3053C>A (p.Pro1018Gln)
c.3026C>A (p.Pro1009Gln)
5g.148131314C>GCA361652104SPINK5c.3020C>G (p.Pro1007Arg)
c.3110C>G (p.Pro1037Arg)
c.3053C>G (p.Pro1018Arg)
c.3026C>G (p.Pro1009Arg)
5g.148131314C>TCA361652105SPINK5c.3020C>T (p.Pro1007Leu)
c.3110C>T (p.Pro1037Leu)
c.3053C>T (p.Pro1018Leu)
c.3026C>T (p.Pro1009Leu)
5g.148131315A>CCA446938289SPINK5c.3021A>C (p.Pro1007=)
c.3111A>C (p.Pro1037=)
c.3054A>C (p.Pro1018=)
c.3027A>C (p.Pro1009=)
5g.148131315A>GCA446938291SPINK5c.3021A>G (p.Pro1007=)
c.3111A>G (p.Pro1037=)
c.3054A>G (p.Pro1018=)
c.3027A>G (p.Pro1009=)
5g.148131315A>TCA446938290SPINK5c.3021A>T (p.Pro1007=)
c.3111A>T (p.Pro1037=)
c.3054A>T (p.Pro1018=)
c.3027A>T (p.Pro1009=)
5g.148131316A=CA1589902910SPINK5c.3022A= (p.Lys1008=)
c.3112A= (p.Lys1038=)
c.3055A= (p.Lys1019=)
c.3028A= (p.Lys1010=)
5g.148131316A>CCA361652106SPINK5c.3022A>C (p.Lys1008Gln)
c.3112A>C (p.Lys1038Gln)
c.3055A>C (p.Lys1019Gln)
c.3028A>C (p.Lys1010Gln)
5g.148131316A>GCA3496224SPINK5c.3022A>G (p.Lys1008Glu)
c.3112A>G (p.Lys1038Glu)
c.3055A>G (p.Lys1019Glu)
c.3028A>G (p.Lys1010Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131316A>TCA361652107SPINK5c.3022A>T (p.Lys1008Ter)
c.3112A>T (p.Lys1038Ter)
c.3055A>T (p.Lys1019Ter)
c.3028A>T (p.Lys1010Ter)
5g.148131317A>CCA361652110SPINK5c.3023A>C (p.Lys1008Thr)
c.3113A>C (p.Lys1038Thr)
c.3056A>C (p.Lys1019Thr)
c.3029A>C (p.Lys1010Thr)
5g.148131317A>GCA361652108SPINK5c.3023A>G (p.Lys1008Arg)
c.3113A>G (p.Lys1038Arg)
c.3056A>G (p.Lys1019Arg)
c.3029A>G (p.Lys1010Arg)
5g.148131317A>TCA361652109SPINK5c.3023A>T (p.Lys1008Met)
c.3113A>T (p.Lys1038Met)
c.3056A>T (p.Lys1019Met)
c.3029A>T (p.Lys1010Met)
5g.148131318G>ACA446938292SPINK5c.3024G>A (p.Lys1008=)
c.3114G>A (p.Lys1038=)
c.3057G>A (p.Lys1019=)
c.3030G>A (p.Lys1010=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131318G>CCA361652111SPINK5c.3024G>C (p.Lys1008Asn)
c.3114G>C (p.Lys1038Asn)
c.3057G>C (p.Lys1019Asn)
c.3030G>C (p.Lys1010Asn)
5g.148131318G=CA1589902911SPINK5c.3024G= (p.Lys1008=)
c.3114G= (p.Lys1038=)
c.3057G= (p.Lys1019=)
c.3030G= (p.Lys1010=)
5g.148131318G>TCA361652112SPINK5c.3024G>T (p.Lys1008Asn)
c.3114G>T (p.Lys1038Asn)
c.3057G>T (p.Lys1019Asn)
c.3030G>T (p.Lys1010Asn)
5g.148131319G>ACA361652113SPINK5c.3025G>A (p.Asp1009Asn)
c.3115G>A (p.Asp1039Asn)
c.3058G>A (p.Asp1020Asn)
c.3031G>A (p.Asp1011Asn)
5g.148131319G>CCA361652114SPINK5c.3025G>C (p.Asp1009His)
c.3115G>C (p.Asp1039His)
c.3058G>C (p.Asp1020His)
c.3031G>C (p.Asp1011His)
5g.148131319G=CA1589902912SPINK5c.3025G= (p.Asp1009=)
c.3115G= (p.Asp1039=)
c.3058G= (p.Asp1020=)
c.3031G= (p.Asp1011=)
5g.148131319G>TCA361652115SPINK5c.3025G>T (p.Asp1009Tyr)
c.3115G>T (p.Asp1039Tyr)
c.3058G>T (p.Asp1020Tyr)
c.3031G>T (p.Asp1011Tyr)
 dbSNP gnomAD v3 gnomAD v4
5g.148131320A=CA1589902913SPINK5c.3026A= (p.Asp1009=)
c.3116A= (p.Asp1039=)
c.3059A= (p.Asp1020=)
c.3032A= (p.Asp1011=)
5g.148131320A>CCA361652116SPINK5c.3026A>C (p.Asp1009Ala)
c.3116A>C (p.Asp1039Ala)
c.3059A>C (p.Asp1020Ala)
c.3032A>C (p.Asp1011Ala)
5g.148131320A>GCA3496225SPINK5c.3026A>G (p.Asp1009Gly)
c.3116A>G (p.Asp1039Gly)
c.3059A>G (p.Asp1020Gly)
c.3032A>G (p.Asp1011Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131320A>TCA128947205SPINK5c.3026A>T (p.Asp1009Val)
c.3116A>T (p.Asp1039Val)
c.3059A>T (p.Asp1020Val)
c.3032A>T (p.Asp1011Val)
 dbSNP
5g.148131321T>ACA361652117SPINK5c.3027T>A (p.Asp1009Glu)
c.3117T>A (p.Asp1039Glu)
c.3060T>A (p.Asp1020Glu)
c.3033T>A (p.Asp1011Glu)
5g.148131321T>CCA446938293SPINK5c.3027T>C (p.Asp1009=)
c.3117T>C (p.Asp1039=)
c.3060T>C (p.Asp1020=)
c.3033T>C (p.Asp1011=)
5g.148131321T>GCA361652118SPINK5c.3027T>G (p.Asp1009Glu)
c.3117T>G (p.Asp1039Glu)
c.3060T>G (p.Asp1020Glu)
c.3033T>G (p.Asp1011Glu)
5g.148131322T>ACA361652120SPINK5c.3028T>A (p.Leu1010Ile)
c.3118T>A (p.Leu1040Ile)
c.3061T>A (p.Leu1021Ile)
c.3034T>A (p.Leu1012Ile)
 COSMIC COSMIC
5g.148131322T>CCA446938294SPINK5c.3028T>C (p.Leu1010=)
c.3118T>C (p.Leu1040=)
c.3061T>C (p.Leu1021=)
c.3034T>C (p.Leu1012=)
5g.148131322T>GCA361652119SPINK5c.3028T>G (p.Leu1010Val)
c.3118T>G (p.Leu1040Val)
c.3061T>G (p.Leu1021Val)
c.3034T>G (p.Leu1012Val)
 ClinVar dbSNP gnomAD v4
5g.148131322T=CA1589902914SPINK5c.3028T= (p.Leu1010=)
c.3118T= (p.Leu1040=)
c.3061T= (p.Leu1021=)
c.3034T= (p.Leu1012=)
5g.148131323T>ACA361652121SPINK5c.3029T>A (p.Leu1010Ter)
c.3119T>A (p.Leu1040Ter)
c.3062T>A (p.Leu1021Ter)
c.3035T>A (p.Leu1012Ter)
5g.148131323T>CCA361652122SPINK5c.3029T>C (p.Leu1010Ser)
c.3119T>C (p.Leu1040Ser)
c.3062T>C (p.Leu1021Ser)
c.3035T>C (p.Leu1012Ser)
5g.148131323T>GCA361652123SPINK5c.3029T>G (p.Leu1010Ter)
c.3119T>G (p.Leu1040Ter)
c.3062T>G (p.Leu1021Ter)
c.3035T>G (p.Leu1012Ter)
5g.148131324A>CCA361652124SPINK5c.3030A>C (p.Leu1010Phe)
c.3120A>C (p.Leu1040Phe)
c.3063A>C (p.Leu1021Phe)
c.3036A>C (p.Leu1012Phe)
5g.148131324A>GCA446938295SPINK5c.3030A>G (p.Leu1010=)
c.3120A>G (p.Leu1040=)
c.3063A>G (p.Leu1021=)
c.3036A>G (p.Leu1012=)
5g.148131324A>TCA361652125SPINK5c.3030A>T (p.Leu1010Phe)
c.3120A>T (p.Leu1040Phe)
c.3063A>T (p.Leu1021Phe)
c.3036A>T (p.Leu1012Phe)
5g.148131325A>CCA361652126SPINK5c.3031A>C (p.Lys1011Gln)
c.3121A>C (p.Lys1041Gln)
c.3064A>C (p.Lys1022Gln)
c.3037A>C (p.Lys1013Gln)
5g.148131325A>GCA361652127SPINK5c.3031A>G (p.Lys1011Glu)
c.3121A>G (p.Lys1041Glu)
c.3064A>G (p.Lys1022Glu)
c.3037A>G (p.Lys1013Glu)
5g.148131325A>TCA361652128SPINK5c.3031A>T (p.Lys1011Ter)
c.3121A>T (p.Lys1041Ter)
c.3064A>T (p.Lys1022Ter)
c.3037A>T (p.Lys1013Ter)
5g.148131326A>CCA361652129SPINK5c.3032A>C (p.Lys1011Thr)
c.3122A>C (p.Lys1041Thr)
c.3065A>C (p.Lys1022Thr)
c.3038A>C (p.Lys1013Thr)
5g.148131326A>GCA361652130SPINK5c.3032A>G (p.Lys1011Arg)
c.3122A>G (p.Lys1041Arg)
c.3065A>G (p.Lys1022Arg)
c.3038A>G (p.Lys1013Arg)
5g.148131326A>TCA361652131SPINK5c.3032A>T (p.Lys1011Met)
c.3122A>T (p.Lys1041Met)
c.3065A>T (p.Lys1022Met)
c.3038A>T (p.Lys1013Met)
5g.148131327G>ACA446938296SPINK5c.3033G>A (p.Lys1011=)
c.3123G>A (p.Lys1041=)
c.3066G>A (p.Lys1022=)
c.3039G>A (p.Lys1013=)
 COSMIC COSMIC
5g.148131327G>CCA361652132SPINK5c.3033G>C (p.Lys1011Asn)
c.3123G>C (p.Lys1041Asn)
c.3066G>C (p.Lys1022Asn)
c.3039G>C (p.Lys1013Asn)
5g.148131327G>TCA361652133SPINK5c.3033G>T (p.Lys1011Asn)
c.3123G>T (p.Lys1041Asn)
c.3066G>T (p.Lys1022Asn)
c.3039G>T (p.Lys1013Asn)
5g.148131328C>ACA361652136SPINK5c.3034C>A (p.Pro1012Thr)
c.3124C>A (p.Pro1042Thr)
c.3067C>A (p.Pro1023Thr)
c.3040C>A (p.Pro1014Thr)
5g.148131328C=CA1589902915SPINK5c.3034C= (p.Pro1012=)
c.3124C= (p.Pro1042=)
c.3067C= (p.Pro1023=)
c.3040C= (p.Pro1014=)
5g.148131328C>GCA361652134SPINK5c.3034C>G (p.Pro1012Ala)
c.3124C>G (p.Pro1042Ala)
c.3067C>G (p.Pro1023Ala)
c.3040C>G (p.Pro1014Ala)
 dbSNP
5g.148131328C>TCA361652135SPINK5c.3034C>T (p.Pro1012Ser)
c.3124C>T (p.Pro1042Ser)
c.3067C>T (p.Pro1023Ser)
c.3040C>T (p.Pro1014Ser)
 ClinVar dbSNP gnomAD v4
5g.148131329C>ACA361652137SPINK5c.3035C>A (p.Pro1012His)
c.3125C>A (p.Pro1042His)
c.3068C>A (p.Pro1023His)
c.3041C>A (p.Pro1014His)
5g.148131329C=CA1589902916SPINK5c.3035C= (p.Pro1012=)
c.3125C= (p.Pro1042=)
c.3068C= (p.Pro1023=)
c.3041C= (p.Pro1014=)
5g.148131329C>GCA361652138SPINK5c.3035C>G (p.Pro1012Arg)
c.3125C>G (p.Pro1042Arg)
c.3068C>G (p.Pro1023Arg)
c.3041C>G (p.Pro1014Arg)
5g.148131329C>TCA3496226SPINK5c.3035C>T (p.Pro1012Leu)
c.3125C>T (p.Pro1042Leu)
c.3068C>T (p.Pro1023Leu)
c.3041C>T (p.Pro1014Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131333_148131336delCA2675859883SPINK5c.3039_3042del (p.Cys1014ValfsTer18)
c.3129_3132del (p.Cys1044ValfsTer18)
c.3072_3075del (p.Cys1025ValfsTer18)
c.3045_3048del (p.Cys1016ValfsTer18)
 gnomAD v4
5g.148131330T>ACA446938297SPINK5c.3036T>A (p.Pro1012=)
c.3126T>A (p.Pro1042=)
c.3069T>A (p.Pro1023=)
c.3042T>A (p.Pro1014=)
5g.148131330T>CCA446938298SPINK5c.3036T>C (p.Pro1012=)
c.3126T>C (p.Pro1042=)
c.3069T>C (p.Pro1023=)
c.3042T>C (p.Pro1014=)
5g.148131330T>GCA446938299SPINK5c.3036T>G (p.Pro1012=)
c.3126T>G (p.Pro1042=)
c.3069T>G (p.Pro1023=)
c.3042T>G (p.Pro1014=)
5g.148131331G>ACA3496227SPINK5c.3037G>A (p.Val1013Ile)
c.3127G>A (p.Val1043Ile)
c.3070G>A (p.Val1024Ile)
c.3043G>A (p.Val1015Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131331G>CCA361652139SPINK5c.3037G>C (p.Val1013Leu)
c.3127G>C (p.Val1043Leu)
c.3070G>C (p.Val1024Leu)
c.3043G>C (p.Val1015Leu)
 COSMIC
5g.148131331G=CA1589902917SPINK5c.3037G= (p.Val1013=)
c.3127G= (p.Val1043=)
c.3070G= (p.Val1024=)
c.3043G= (p.Val1015=)
5g.148131331G>TCA361652140SPINK5c.3037G>T (p.Val1013Phe)
c.3127G>T (p.Val1043Phe)
c.3070G>T (p.Val1024Phe)
c.3043G>T (p.Val1015Phe)
5g.148131332T>ACA361652141SPINK5c.3038T>A (p.Val1013Asp)
c.3128T>A (p.Val1043Asp)
c.3071T>A (p.Val1024Asp)
c.3044T>A (p.Val1015Asp)
5g.148131332T>CCA361652142SPINK5c.3038T>C (p.Val1013Ala)
c.3128T>C (p.Val1043Ala)
c.3071T>C (p.Val1024Ala)
c.3044T>C (p.Val1015Ala)
5g.148131332T>GCA361652143SPINK5c.3038T>G (p.Val1013Gly)
c.3128T>G (p.Val1043Gly)
c.3071T>G (p.Val1024Gly)
c.3044T>G (p.Val1015Gly)
5g.148131333C>ACA446938300SPINK5c.3039C>A (p.Val1013=)
c.3129C>A (p.Val1043=)
c.3072C>A (p.Val1024=)
c.3045C>A (p.Val1015=)
5g.148131333C>GCA446938301SPINK5c.3039C>G (p.Val1013=)
c.3129C>G (p.Val1043=)
c.3072C>G (p.Val1024=)
c.3045C>G (p.Val1015=)
5g.148131333C>TCA446938302SPINK5c.3039C>T (p.Val1013=)
c.3129C>T (p.Val1043=)
c.3072C>T (p.Val1024=)
c.3045C>T (p.Val1015=)
5g.148131334T>ACA361652144SPINK5c.3040T>A (p.Cys1014Ser)
c.3130T>A (p.Cys1044Ser)
c.3073T>A (p.Cys1025Ser)
c.3046T>A (p.Cys1016Ser)
5g.148131334T>CCA361652145SPINK5c.3040T>C (p.Cys1014Arg)
c.3130T>C (p.Cys1044Arg)
c.3073T>C (p.Cys1025Arg)
c.3046T>C (p.Cys1016Arg)
5g.148131334T>GCA361652146SPINK5c.3040T>G (p.Cys1014Gly)
c.3130T>G (p.Cys1044Gly)
c.3073T>G (p.Cys1025Gly)
c.3046T>G (p.Cys1016Gly)
5g.148131335G>ACA361652148SPINK5c.3041G>A (p.Cys1014Tyr)
c.3131G>A (p.Cys1044Tyr)
c.3074G>A (p.Cys1025Tyr)
c.3047G>A (p.Cys1016Tyr)
5g.148131335G>CCA361652149SPINK5c.3041G>C (p.Cys1014Ser)
c.3131G>C (p.Cys1044Ser)
c.3074G>C (p.Cys1025Ser)
c.3047G>C (p.Cys1016Ser)
5g.148131335G>TCA361652147SPINK5c.3041G>T (p.Cys1014Phe)
c.3131G>T (p.Cys1044Phe)
c.3074G>T (p.Cys1025Phe)
c.3047G>T (p.Cys1016Phe)
5g.148131336T>ACA361652151SPINK5c.3042T>A (p.Cys1014Ter)
c.3132T>A (p.Cys1044Ter)
c.3075T>A (p.Cys1025Ter)
c.3048T>A (p.Cys1016Ter)
5g.148131336T>CCA446938304SPINK5c.3042T>C (p.Cys1014=)
c.3132T>C (p.Cys1044=)
c.3075T>C (p.Cys1025=)
c.3048T>C (p.Cys1016=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131336T>GCA361652150SPINK5c.3042T>G (p.Cys1014Trp)
c.3132T>G (p.Cys1044Trp)
c.3075T>G (p.Cys1025Trp)
c.3048T>G (p.Cys1016Trp)
5g.148131336T=CA1589902918SPINK5c.3042T= (p.Cys1014=)
c.3132T= (p.Cys1044=)
c.3075T= (p.Cys1025=)
c.3048T= (p.Cys1016=)
5g.148131337G>ACA361652152SPINK5c.3043G>A (p.Gly1015Ser)
c.3133G>A (p.Gly1045Ser)
c.3076G>A (p.Gly1026Ser)
c.3049G>A (p.Gly1017Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.148131337G>CCA361652153SPINK5c.3043G>C (p.Gly1015Arg)
c.3133G>C (p.Gly1045Arg)
c.3076G>C (p.Gly1026Arg)
c.3049G>C (p.Gly1017Arg)
5g.148131337G=CA1589902919SPINK5c.3043G= (p.Gly1015=)
c.3133G= (p.Gly1045=)
c.3076G= (p.Gly1026=)
c.3049G= (p.Gly1017=)
5g.148131337G>TCA361652154SPINK5c.3043G>T (p.Gly1015Cys)
c.3133G>T (p.Gly1045Cys)
c.3076G>T (p.Gly1026Cys)
c.3049G>T (p.Gly1017Cys)
5g.148131338G>ACA361652155SPINK5c.3044G>A (p.Gly1015Asp)
c.3134G>A (p.Gly1045Asp)
c.3077G>A (p.Gly1026Asp)
c.3050G>A (p.Gly1017Asp)
 dbSNP
5g.148131338G>CCA361652156SPINK5c.3044G>C (p.Gly1015Ala)
c.3134G>C (p.Gly1045Ala)
c.3077G>C (p.Gly1026Ala)
c.3050G>C (p.Gly1017Ala)
5g.148131338G>TCA361652157SPINK5c.3044G>T (p.Gly1015Val)
c.3134G>T (p.Gly1045Val)
c.3077G>T (p.Gly1026Val)
c.3050G>T (p.Gly1017Val)
5g.148131339T>ACA446938307SPINK5c.3045T>A (p.Gly1015=)
c.3135T>A (p.Gly1045=)
c.3078T>A (p.Gly1026=)
c.3051T>A (p.Gly1017=)
5g.148131339T>CCA446938305SPINK5c.3045T>C (p.Gly1015=)
c.3135T>C (p.Gly1045=)
c.3078T>C (p.Gly1026=)
c.3051T>C (p.Gly1017=)
5g.148131339T>GCA446938306SPINK5c.3045T>G (p.Gly1015=)
c.3135T>G (p.Gly1045=)
c.3078T>G (p.Gly1026=)
c.3051T>G (p.Gly1017=)
5g.148131340G>ACA361652158SPINK5c.3046G>A (p.Asp1016Asn)
c.3136G>A (p.Asp1046Asn)
c.3079G>A (p.Asp1027Asn)
c.3052G>A (p.Asp1018Asn)
5g.148131340G>CCA361652159SPINK5c.3046G>C (p.Asp1016His)
c.3136G>C (p.Asp1046His)
c.3079G>C (p.Asp1027His)
c.3052G>C (p.Asp1018His)
5g.148131340G>TCA361652160SPINK5c.3046G>T (p.Asp1016Tyr)
c.3136G>T (p.Asp1046Tyr)
c.3079G>T (p.Asp1027Tyr)
c.3052G>T (p.Asp1018Tyr)
5g.148131341A>CCA361652161SPINK5c.3047A>C (p.Asp1016Ala)
c.3137A>C (p.Asp1046Ala)
c.3080A>C (p.Asp1027Ala)
c.3053A>C (p.Asp1018Ala)
5g.148131341A>GCA361652162SPINK5c.3047A>G (p.Asp1016Gly)
c.3137A>G (p.Asp1046Gly)
c.3080A>G (p.Asp1027Gly)
c.3053A>G (p.Asp1018Gly)
5g.148131341A>TCA361652163SPINK5c.3047A>T (p.Asp1016Val)
c.3137A>T (p.Asp1046Val)
c.3080A>T (p.Asp1027Val)
c.3053A>T (p.Asp1018Val)
5g.148131342C>ACA361652164SPINK5c.3048C>A (p.Asp1016Glu)
c.3138C>A (p.Asp1046Glu)
c.3081C>A (p.Asp1027Glu)
c.3054C>A (p.Asp1018Glu)
5g.148131342C=CA1589902920SPINK5c.3048C= (p.Asp1016=)
c.3138C= (p.Asp1046=)
c.3081C= (p.Asp1027=)
c.3054C= (p.Asp1018=)
5g.148131342C>GCA361652165SPINK5c.3048C>G (p.Asp1016Glu)
c.3138C>G (p.Asp1046Glu)
c.3081C>G (p.Asp1027Glu)
c.3054C>G (p.Asp1018Glu)
5g.148131342C>TCA446938308SPINK5c.3048C>T (p.Asp1016=)
c.3138C>T (p.Asp1046=)
c.3081C>T (p.Asp1027=)
c.3054C>T (p.Asp1018=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.148131343G>ACA3496228SPINK5c.3049G>A (p.Asp1017Asn)
c.3139G>A (p.Asp1047Asn)
c.3082G>A (p.Asp1028Asn)
c.3055G>A (p.Asp1019Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131343G>CCA361652166SPINK5c.3049G>C (p.Asp1017His)
c.3139G>C (p.Asp1047His)
c.3082G>C (p.Asp1028His)
c.3055G>C (p.Asp1019His)
5g.148131343G=CA1589902921SPINK5c.3049G= (p.Asp1017=)
c.3139G= (p.Asp1047=)
c.3082G= (p.Asp1028=)
c.3055G= (p.Asp1019=)
5g.148131343G>TCA361652167SPINK5c.3049G>T (p.Asp1017Tyr)
c.3139G>T (p.Asp1047Tyr)
c.3082G>T (p.Asp1028Tyr)
c.3055G>T (p.Asp1019Tyr)
 gnomAD v4
5g.148131344A>CCA361652168SPINK5c.3050A>C (p.Asp1017Ala)
c.3140A>C (p.Asp1047Ala)
c.3083A>C (p.Asp1028Ala)
c.3056A>C (p.Asp1019Ala)
5g.148131344A>GCA361652169SPINK5c.3050A>G (p.Asp1017Gly)
c.3140A>G (p.Asp1047Gly)
c.3083A>G (p.Asp1028Gly)
c.3056A>G (p.Asp1019Gly)
5g.148131344A>TCA361652170SPINK5c.3050A>T (p.Asp1017Val)
c.3140A>T (p.Asp1047Val)
c.3083A>T (p.Asp1028Val)
c.3056A>T (p.Asp1019Val)
5g.148131345T>ACA361652171SPINK5c.3051T>A (p.Asp1017Glu)
c.3141T>A (p.Asp1047Glu)
c.3084T>A (p.Asp1028Glu)
c.3057T>A (p.Asp1019Glu)
5g.148131345T>CCA128947226SPINK5c.3051T>C (p.Asp1017=)
c.3141T>C (p.Asp1047=)
c.3084T>C (p.Asp1028=)
c.3057T>C (p.Asp1019=)
 dbSNP gnomAD v3 gnomAD v4
5g.148131345T>GCA361652172SPINK5c.3051T>G (p.Asp1017Glu)
c.3141T>G (p.Asp1047Glu)
c.3084T>G (p.Asp1028Glu)
c.3057T>G (p.Asp1019Glu)
5g.148131345T=CA1589902922SPINK5c.3051T= (p.Asp1017=)
c.3141T= (p.Asp1047=)
c.3084T= (p.Asp1028=)
c.3057T= (p.Asp1019=)
5g.148131346G>ACA361652173SPINK5c.3052G>A (p.Gly1018Ser)
c.3142G>A (p.Gly1048Ser)
c.3085G>A (p.Gly1029Ser)
c.3058G>A (p.Gly1020Ser)
5g.148131346G>CCA361652174SPINK5c.3052G>C (p.Gly1018Arg)
c.3142G>C (p.Gly1048Arg)
c.3085G>C (p.Gly1029Arg)
c.3058G>C (p.Gly1020Arg)
5g.148131346G>TCA361652175SPINK5c.3052G>T (p.Gly1018Cys)
c.3142G>T (p.Gly1048Cys)
c.3085G>T (p.Gly1029Cys)
c.3058G>T (p.Gly1020Cys)
5g.148131347G>ACA361652177SPINK5c.3053G>A (p.Gly1018Asp)
c.3143G>A (p.Gly1048Asp)
c.3086G>A (p.Gly1029Asp)
c.3059G>A (p.Gly1020Asp)
5g.148131347G>CCA361652178SPINK5c.3053G>C (p.Gly1018Ala)
c.3143G>C (p.Gly1048Ala)
c.3086G>C (p.Gly1029Ala)
c.3059G>C (p.Gly1020Ala)
 ClinVar dbSNP
5g.148131347G>TCA361652176SPINK5c.3053G>T (p.Gly1018Val)
c.3143G>T (p.Gly1048Val)
c.3086G>T (p.Gly1029Val)
c.3059G>T (p.Gly1020Val)
 gnomAD v4
5g.148131348C>ACA446938310SPINK5c.3054C>A (p.Gly1018=)
c.3144C>A (p.Gly1048=)
c.3087C>A (p.Gly1029=)
c.3060C>A (p.Gly1020=)
5g.148131348C>GCA446938311SPINK5c.3054C>G (p.Gly1018=)
c.3144C>G (p.Gly1048=)
c.3087C>G (p.Gly1029=)
c.3060C>G (p.Gly1020=)
5g.148131348C>TCA446938312SPINK5c.3054C>T (p.Gly1018=)
c.3144C>T (p.Gly1048=)
c.3087C>T (p.Gly1029=)
c.3060C>T (p.Gly1020=)
5g.148131349C>ACA361652179SPINK5c.3055C>A (p.Gln1019Lys)
c.3145C>A (p.Gln1049Lys)
c.3088C>A (p.Gln1030Lys)
c.3061C>A (p.Gln1021Lys)
5g.148131349C>GCA361652180SPINK5c.3055C>G (p.Gln1019Glu)
c.3145C>G (p.Gln1049Glu)
c.3088C>G (p.Gln1030Glu)
c.3061C>G (p.Gln1021Glu)
5g.148131349C>TCA361652181SPINK5c.3055C>T (p.Gln1019Ter)
c.3145C>T (p.Gln1049Ter)
c.3088C>T (p.Gln1030Ter)
c.3061C>T (p.Gln1021Ter)
5g.148131350A>CCA361652182SPINK5c.3056A>C (p.Gln1019Pro)
c.3146A>C (p.Gln1049Pro)
c.3089A>C (p.Gln1030Pro)
c.3062A>C (p.Gln1021Pro)
5g.148131350A>GCA361652183SPINK5c.3056A>G (p.Gln1019Arg)
c.3146A>G (p.Gln1049Arg)
c.3089A>G (p.Gln1030Arg)
c.3062A>G (p.Gln1021Arg)
5g.148131350A>TCA361652184SPINK5c.3056A>T (p.Gln1019Leu)
c.3146A>T (p.Gln1049Leu)
c.3089A>T (p.Gln1030Leu)
c.3062A>T (p.Gln1021Leu)
5g.148131351A>CCA361652185SPINK5c.3057A>C (p.Gln1019His)
c.3147A>C (p.Gln1049His)
c.3090A>C (p.Gln1030His)
c.3063A>C (p.Gln1021His)
5g.148131351A>GCA446938313SPINK5c.3057A>G (p.Gln1019=)
c.3147A>G (p.Gln1049=)
c.3090A>G (p.Gln1030=)
c.3063A>G (p.Gln1021=)
5g.148131351A>TCA361652186SPINK5c.3057A>T (p.Gln1019His)
c.3147A>T (p.Gln1049His)
c.3090A>T (p.Gln1030His)
c.3063A>T (p.Gln1021His)
5g.148131352A>CCA361652187SPINK5c.3058A>C (p.Thr1020Pro)
c.3148A>C (p.Thr1050Pro)
c.3091A>C (p.Thr1031Pro)
c.3064A>C (p.Thr1022Pro)
5g.148131352A>GCA361652188SPINK5c.3058A>G (p.Thr1020Ala)
c.3148A>G (p.Thr1050Ala)
c.3091A>G (p.Thr1031Ala)
c.3064A>G (p.Thr1022Ala)
5g.148131352A>TCA361652189SPINK5c.3058A>T (p.Thr1020Ser)
c.3148A>T (p.Thr1050Ser)
c.3091A>T (p.Thr1031Ser)
c.3064A>T (p.Thr1022Ser)
5g.148131353C>ACA361652190SPINK5c.3059C>A (p.Thr1020Asn)
c.3149C>A (p.Thr1050Asn)
c.3092C>A (p.Thr1031Asn)
c.3065C>A (p.Thr1022Asn)
5g.148131353C>GCA361652191SPINK5c.3059C>G (p.Thr1020Ser)
c.3149C>G (p.Thr1050Ser)
c.3092C>G (p.Thr1031Ser)
c.3065C>G (p.Thr1022Ser)
5g.148131353C>TCA361652192SPINK5c.3059C>T (p.Thr1020Ile)
c.3149C>T (p.Thr1050Ile)
c.3092C>T (p.Thr1031Ile)
c.3065C>T (p.Thr1022Ile)
5g.148131354C>ACA446938314SPINK5c.3060C>A (p.Thr1020=)
c.3150C>A (p.Thr1050=)
c.3093C>A (p.Thr1031=)
c.3066C>A (p.Thr1022=)
5g.148131354C>GCA446938315SPINK5c.3060C>G (p.Thr1020=)
c.3150C>G (p.Thr1050=)
c.3093C>G (p.Thr1031=)
c.3066C>G (p.Thr1022=)
5g.148131354C>TCA446938316SPINK5c.3060C>T (p.Thr1020=)
c.3150C>T (p.Thr1050=)
c.3093C>T (p.Thr1031=)
c.3066C>T (p.Thr1022=)
5g.148131355T>ACA361652195SPINK5c.3061T>A (p.Tyr1021Asn)
c.3151T>A (p.Tyr1051Asn)
c.3094T>A (p.Tyr1032Asn)
c.3067T>A (p.Tyr1023Asn)
5g.148131355T>CCA361652194SPINK5c.3061T>C (p.Tyr1021His)
c.3151T>C (p.Tyr1051His)
c.3094T>C (p.Tyr1032His)
c.3067T>C (p.Tyr1023His)
5g.148131355T>GCA361652193SPINK5c.3061T>G (p.Tyr1021Asp)
c.3151T>G (p.Tyr1051Asp)
c.3094T>G (p.Tyr1032Asp)
c.3067T>G (p.Tyr1023Asp)
5g.148131356A>CCA361652196SPINK5c.3062A>C (p.Tyr1021Ser)
c.3152A>C (p.Tyr1051Ser)
c.3095A>C (p.Tyr1032Ser)
c.3068A>C (p.Tyr1023Ser)
5g.148131356A>GCA361652197SPINK5c.3062A>G (p.Tyr1021Cys)
c.3152A>G (p.Tyr1051Cys)
c.3095A>G (p.Tyr1032Cys)
c.3068A>G (p.Tyr1023Cys)
 gnomAD v4
5g.148131356A>TCA361652198SPINK5c.3062A>T (p.Tyr1021Phe)
c.3152A>T (p.Tyr1051Phe)
c.3095A>T (p.Tyr1032Phe)
c.3068A>T (p.Tyr1023Phe)
5g.148131357C>ACA361652199SPINK5c.3063C>A (p.Tyr1021Ter)
c.3153C>A (p.Tyr1051Ter)
c.3096C>A (p.Tyr1032Ter)
c.3069C>A (p.Tyr1023Ter)
5g.148131357C>GCA361652200SPINK5c.3063C>G (p.Tyr1021Ter)
c.3153C>G (p.Tyr1051Ter)
c.3096C>G (p.Tyr1032Ter)
c.3069C>G (p.Tyr1023Ter)
5g.148131357C>TCA446938317SPINK5c.3063C>T (p.Tyr1021=)
c.3153C>T (p.Tyr1051=)
c.3096C>T (p.Tyr1032=)
c.3069C>T (p.Tyr1023=)
5g.148131358A=CA1589902923SPINK5c.3064A= (p.Asn1022=)
c.3154A= (p.Asn1052=)
c.3097A= (p.Asn1033=)
c.3070A= (p.Asn1024=)
5g.148131358A>CCA361652201SPINK5c.3064A>C (p.Asn1022His)
c.3154A>C (p.Asn1052His)
c.3097A>C (p.Asn1033His)
c.3070A>C (p.Asn1024His)
5g.148131358A>GCA3496229SPINK5c.3064A>G (p.Asn1022Asp)
c.3154A>G (p.Asn1052Asp)
c.3097A>G (p.Asn1033Asp)
c.3070A>G (p.Asn1024Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131358A>TCA361652202SPINK5c.3064A>T (p.Asn1022Tyr)
c.3154A>T (p.Asn1052Tyr)
c.3097A>T (p.Asn1033Tyr)
c.3070A>T (p.Asn1024Tyr)
5g.148131359A>CCA361652203SPINK5c.3065A>C (p.Asn1022Thr)
c.3155A>C (p.Asn1052Thr)
c.3098A>C (p.Asn1033Thr)
c.3071A>C (p.Asn1024Thr)
5g.148131359A>GCA361652204SPINK5c.3065A>G (p.Asn1022Ser)
c.3155A>G (p.Asn1052Ser)
c.3098A>G (p.Asn1033Ser)
c.3071A>G (p.Asn1024Ser)
5g.148131359A>TCA361652205SPINK5c.3065A>T (p.Asn1022Ile)
c.3155A>T (p.Asn1052Ile)
c.3098A>T (p.Asn1033Ile)
c.3071A>T (p.Asn1024Ile)
5g.148131359_148131360delinsACCA1589902924SPINK5c.3065_3066delinsAC (p.Asn1022=)
c.3155_3156delinsAC (p.Asn1052=)
c.3098_3099delinsAC (p.Asn1033=)
c.3071_3072delinsAC (p.Asn1024=)
5g.148131360delCA563526206SPINK5c.3066del (p.Asn1022LysfsTer11)
c.3156del (p.Asn1052LysfsTer11)
c.3099del (p.Asn1033LysfsTer11)
c.3072del (p.Asn1024LysfsTer11)
 dbSNP gnomAD v2
5g.148131360C>ACA361652206SPINK5c.3066C>A (p.Asn1022Lys)
c.3156C>A (p.Asn1052Lys)
c.3099C>A (p.Asn1033Lys)
c.3072C>A (p.Asn1024Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131360C=CA1589902925SPINK5c.3066C= (p.Asn1022=)
c.3156C= (p.Asn1052=)
c.3099C= (p.Asn1033=)
c.3072C= (p.Asn1024=)
5g.148131360C>GCA361652207SPINK5c.3066C>G (p.Asn1022Lys)
c.3156C>G (p.Asn1052Lys)
c.3099C>G (p.Asn1033Lys)
c.3072C>G (p.Asn1024Lys)
5g.148131360C>TCA446938319SPINK5c.3066C>T (p.Asn1022=)
c.3156C>T (p.Asn1052=)
c.3099C>T (p.Asn1033=)
c.3072C>T (p.Asn1024=)
5g.148131361A>CCA361652208SPINK5c.3067A>C (p.Asn1023His)
c.3157A>C (p.Asn1053His)
c.3100A>C (p.Asn1034His)
c.3073A>C (p.Asn1025His)
5g.148131361A>GCA361652210SPINK5c.3067A>G (p.Asn1023Asp)
c.3157A>G (p.Asn1053Asp)
c.3100A>G (p.Asn1034Asp)
c.3073A>G (p.Asn1025Asp)
5g.148131361A>TCA361652209SPINK5c.3067A>T (p.Asn1023Tyr)
c.3157A>T (p.Asn1053Tyr)
c.3100A>T (p.Asn1034Tyr)
c.3073A>T (p.Asn1025Tyr)
5g.148131362A>CCA361652211SPINK5c.3068A>C (p.Asn1023Thr)
c.3158A>C (p.Asn1053Thr)
c.3101A>C (p.Asn1034Thr)
c.3074A>C (p.Asn1025Thr)
5g.148131362A>GCA361652213SPINK5c.3068A>G (p.Asn1023Ser)
c.3158A>G (p.Asn1053Ser)
c.3101A>G (p.Asn1034Ser)
c.3074A>G (p.Asn1025Ser)
 gnomAD v4
5g.148131362A>TCA361652212SPINK5c.3068A>T (p.Asn1023Ile)
c.3158A>T (p.Asn1053Ile)
c.3101A>T (p.Asn1034Ile)
c.3074A>T (p.Asn1025Ile)
5g.148131363T>ACA361652214SPINK5c.3069T>A (p.Asn1023Lys)
c.3159T>A (p.Asn1053Lys)
c.3102T>A (p.Asn1034Lys)
c.3075T>A (p.Asn1025Lys)
5g.148131363T>CCA446938320SPINK5c.3069T>C (p.Asn1023=)
c.3159T>C (p.Asn1053=)
c.3102T>C (p.Asn1034=)
c.3075T>C (p.Asn1025=)
5g.148131363T>GCA361652215SPINK5c.3069T>G (p.Asn1023Lys)
c.3159T>G (p.Asn1053Lys)
c.3102T>G (p.Asn1034Lys)
c.3075T>G (p.Asn1025Lys)
5g.148131364C>ACA361652216SPINK5c.3070C>A (p.Pro1024Thr)
c.3160C>A (p.Pro1054Thr)
c.3103C>A (p.Pro1035Thr)
c.3076C>A (p.Pro1026Thr)
5g.148131364C>GCA361652218SPINK5c.3070C>G (p.Pro1024Ala)
c.3160C>G (p.Pro1054Ala)
c.3103C>G (p.Pro1035Ala)
c.3076C>G (p.Pro1026Ala)
5g.148131364C>TCA361652217SPINK5c.3070C>T (p.Pro1024Ser)
c.3160C>T (p.Pro1054Ser)
c.3103C>T (p.Pro1035Ser)
c.3076C>T (p.Pro1026Ser)
5g.148131365C>ACA361652219SPINK5c.3071C>A (p.Pro1024His)
c.3161C>A (p.Pro1054His)
c.3104C>A (p.Pro1035His)
c.3077C>A (p.Pro1026His)
5g.148131365C=CA1589902926SPINK5c.3071C= (p.Pro1024=)
c.3161C= (p.Pro1054=)
c.3104C= (p.Pro1035=)
c.3077C= (p.Pro1026=)
5g.148131365C>GCA361652220SPINK5c.3071C>G (p.Pro1024Arg)
c.3161C>G (p.Pro1054Arg)
c.3104C>G (p.Pro1035Arg)
c.3077C>G (p.Pro1026Arg)
5g.148131365C>TCA361652221SPINK5c.3071C>T (p.Pro1024Leu)
c.3161C>T (p.Pro1054Leu)
c.3104C>T (p.Pro1035Leu)
c.3077C>T (p.Pro1026Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131366T>ACA446938321SPINK5c.3072T>A (p.Pro1024=)
c.3162T>A (p.Pro1054=)
c.3105T>A (p.Pro1035=)
c.3078T>A (p.Pro1026=)
5g.148131366T>CCA446938322SPINK5c.3072T>C (p.Pro1024=)
c.3162T>C (p.Pro1054=)
c.3105T>C (p.Pro1035=)
c.3078T>C (p.Pro1026=)
5g.148131366T>GCA446938323SPINK5c.3072T>G (p.Pro1024=)
c.3162T>G (p.Pro1054=)
c.3105T>G (p.Pro1035=)
c.3078T>G (p.Pro1026=)
5g.148131367T>ACA361652222SPINK5c.3073T>A (p.Cys1025Ser)
c.3163T>A (p.Cys1055Ser)
c.3106T>A (p.Cys1036Ser)
c.3079T>A (p.Cys1027Ser)
5g.148131367T>CCA3496230SPINK5c.3073T>C (p.Cys1025Arg)
c.3163T>C (p.Cys1055Arg)
c.3106T>C (p.Cys1036Arg)
c.3079T>C (p.Cys1027Arg)
 dbSNP ExAC
5g.148131367T>GCA361652223SPINK5c.3073T>G (p.Cys1025Gly)
c.3163T>G (p.Cys1055Gly)
c.3106T>G (p.Cys1036Gly)
c.3079T>G (p.Cys1027Gly)
 dbSNP
5g.148131367T=CA1589902927SPINK5c.3073T= (p.Cys1025=)
c.3163T= (p.Cys1055=)
c.3106T= (p.Cys1036=)
c.3079T= (p.Cys1027=)
5g.148131368G>ACA361652224SPINK5c.3074G>A (p.Cys1025Tyr)
c.3164G>A (p.Cys1055Tyr)
c.3107G>A (p.Cys1036Tyr)
c.3080G>A (p.Cys1027Tyr)
 gnomAD v4
5g.148131368G>CCA361652225SPINK5c.3074G>C (p.Cys1025Ser)
c.3164G>C (p.Cys1055Ser)
c.3107G>C (p.Cys1036Ser)
c.3080G>C (p.Cys1027Ser)
5g.148131368G>TCA361652226SPINK5c.3074G>T (p.Cys1025Phe)
c.3164G>T (p.Cys1055Phe)
c.3107G>T (p.Cys1036Phe)
c.3080G>T (p.Cys1027Phe)
5g.148131369C>ACA361652227SPINK5c.3075C>A (p.Cys1025Ter)
c.3165C>A (p.Cys1055Ter)
c.3108C>A (p.Cys1036Ter)
c.3081C>A (p.Cys1027Ter)
5g.148131369C=CA1589902928SPINK5c.3075C= (p.Cys1025=)
c.3165C= (p.Cys1055=)
c.3108C= (p.Cys1036=)
c.3081C= (p.Cys1027=)
5g.148131369C>GCA361652228SPINK5c.3075C>G (p.Cys1025Trp)
c.3165C>G (p.Cys1055Trp)
c.3108C>G (p.Cys1036Trp)
c.3081C>G (p.Cys1027Trp)
5g.148131369C>TCA3496231SPINK5c.3075C>T (p.Cys1025=)
c.3165C>T (p.Cys1055=)
c.3108C>T (p.Cys1036=)
c.3081C>T (p.Cys1027=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.148131370A=CA1589902929SPINK5c.3076A= (p.Met1026=)
c.3166A= (p.Met1056=)
c.3109A= (p.Met1037=)
c.3082A= (p.Met1028=)
5g.148131370A>CCA361652229SPINK5c.3076A>C (p.Met1026Leu)
c.3166A>C (p.Met1056Leu)
c.3109A>C (p.Met1037Leu)
c.3082A>C (p.Met1028Leu)
5g.148131370A>GCA361652231SPINK5c.3076A>G (p.Met1026Val)
c.3166A>G (p.Met1056Val)
c.3109A>G (p.Met1037Val)
c.3082A>G (p.Met1028Val)
 dbSNP gnomAD v4
5g.148131370A>TCA361652230SPINK5c.3076A>T (p.Met1026Leu)
c.3166A>T (p.Met1056Leu)
c.3109A>T (p.Met1037Leu)
c.3082A>T (p.Met1028Leu)
5g.148131371T>ACA361652232SPINK5c.3077T>A (p.Met1026Lys)
c.3167T>A (p.Met1056Lys)
c.3110T>A (p.Met1037Lys)
c.3083T>A (p.Met1028Lys)
5g.148131371T>CCA361652233SPINK5c.3077T>C (p.Met1026Thr)
c.3167T>C (p.Met1056Thr)
c.3110T>C (p.Met1037Thr)
c.3083T>C (p.Met1028Thr)
 dbSNP gnomAD v4
5g.148131371T>GCA3496232SPINK5c.3077T>G (p.Met1026Arg)
c.3167T>G (p.Met1056Arg)
c.3110T>G (p.Met1037Arg)
c.3083T>G (p.Met1028Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131371T=CA1589902930SPINK5c.3077T= (p.Met1026=)
c.3167T= (p.Met1056=)
c.3110T= (p.Met1037=)
c.3083T= (p.Met1028=)
5g.148131372G>ACA361652234SPINK5c.3078G>A (p.Met1026Ile)
c.3168G>A (p.Met1056Ile)
c.3111G>A (p.Met1037Ile)
c.3084G>A (p.Met1028Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.148131372G>CCA361652235SPINK5c.3078G>C (p.Met1026Ile)
c.3168G>C (p.Met1056Ile)
c.3111G>C (p.Met1037Ile)
c.3084G>C (p.Met1028Ile)
5g.148131372G=CA1589902931SPINK5c.3078G= (p.Met1026=)
c.3168G= (p.Met1056=)
c.3111G= (p.Met1037=)
c.3084G= (p.Met1028=)
5g.148131372G>TCA361652236SPINK5c.3078G>T (p.Met1026Ile)
c.3168G>T (p.Met1056Ile)
c.3111G>T (p.Met1037Ile)
c.3084G>T (p.Met1028Ile)
5g.148131373C>ACA128947245SPINK5c.3079C>A (p.Leu1027Ile)
c.3169C>A (p.Leu1057Ile)
c.3112C>A (p.Leu1038Ile)
c.3085C>A (p.Leu1029Ile)
 dbSNP gnomAD v4
5g.148131373C=CA1589902932SPINK5c.3079C= (p.Leu1027=)
c.3169C= (p.Leu1057=)
c.3112C= (p.Leu1038=)
c.3085C= (p.Leu1029=)
5g.148131373C>GCA361652237SPINK5c.3079C>G (p.Leu1027Val)
c.3169C>G (p.Leu1057Val)
c.3112C>G (p.Leu1038Val)
c.3085C>G (p.Leu1029Val)
5g.148131373C>TCA361652238SPINK5c.3079C>T (p.Leu1027Phe)
c.3169C>T (p.Leu1057Phe)
c.3112C>T (p.Leu1038Phe)
c.3085C>T (p.Leu1029Phe)
 dbSNP
5g.148131374T>ACA361652240SPINK5c.3080T>A (p.Leu1027His)
c.3170T>A (p.Leu1057His)
c.3113T>A (p.Leu1038His)
c.3086T>A (p.Leu1029His)
5g.148131374T>CCA361652241SPINK5c.3080T>C (p.Leu1027Pro)
c.3170T>C (p.Leu1057Pro)
c.3113T>C (p.Leu1038Pro)
c.3086T>C (p.Leu1029Pro)
5g.148131374T>GCA361652239SPINK5c.3080T>G (p.Leu1027Arg)
c.3170T>G (p.Leu1057Arg)
c.3113T>G (p.Leu1038Arg)
c.3086T>G (p.Leu1029Arg)
5g.148131375C>ACA446938324SPINK5c.3081C>A (p.Leu1027=)
c.3171C>A (p.Leu1057=)
c.3114C>A (p.Leu1038=)
c.3087C>A (p.Leu1029=)
5g.148131375C=CA1589902933SPINK5c.3081C= (p.Leu1027=)
c.3171C= (p.Leu1057=)
c.3114C= (p.Leu1038=)
c.3087C= (p.Leu1029=)
5g.148131375C>GCA446938325SPINK5c.3081C>G (p.Leu1027=)
c.3171C>G (p.Leu1057=)
c.3114C>G (p.Leu1038=)
c.3087C>G (p.Leu1029=)
 dbSNP
5g.148131375C>TCA446938326SPINK5c.3081C>T (p.Leu1027=)
c.3171C>T (p.Leu1057=)
c.3114C>T (p.Leu1038=)
c.3087C>T (p.Leu1029=)
5g.148131376T>ACA361652242SPINK5c.3082T>A (p.Cys1028Ser)
c.3172T>A (p.Cys1058Ser)
c.3115T>A (p.Cys1039Ser)
c.3088T>A (p.Cys1030Ser)
5g.148131376T>CCA361652243SPINK5c.3082T>C (p.Cys1028Arg)
c.3172T>C (p.Cys1058Arg)
c.3115T>C (p.Cys1039Arg)
c.3088T>C (p.Cys1030Arg)
5g.148131376T>GCA361652244SPINK5c.3082T>G (p.Cys1028Gly)
c.3172T>G (p.Cys1058Gly)
c.3115T>G (p.Cys1039Gly)
c.3088T>G (p.Cys1030Gly)
5g.148131377G>ACA361652245SPINK5c.3083G>A (p.Cys1028Tyr)
c.3173G>A (p.Cys1058Tyr)
c.3116G>A (p.Cys1039Tyr)
c.3089G>A (p.Cys1030Tyr)
5g.148131377G>CCA361652246SPINK5c.3083G>C (p.Cys1028Ser)
c.3173G>C (p.Cys1058Ser)
c.3116G>C (p.Cys1039Ser)
c.3089G>C (p.Cys1030Ser)
5g.148131377G>TCA361652247SPINK5c.3083G>T (p.Cys1028Phe)
c.3173G>T (p.Cys1058Phe)
c.3116G>T (p.Cys1039Phe)
c.3089G>T (p.Cys1030Phe)
5g.148131378T>ACA361652249SPINK5c.3084T>A (p.Cys1028Ter)
c.3174T>A (p.Cys1058Ter)
c.3117T>A (p.Cys1039Ter)
c.3090T>A (p.Cys1030Ter)
5g.148131378T>CCA446938327SPINK5c.3084T>C (p.Cys1028=)
c.3174T>C (p.Cys1058=)
c.3117T>C (p.Cys1039=)
c.3090T>C (p.Cys1030=)
5g.148131378T>GCA361652248SPINK5c.3084T>G (p.Cys1028Trp)
c.3174T>G (p.Cys1058Trp)
c.3117T>G (p.Cys1039Trp)
c.3090T>G (p.Cys1030Trp)
5g.148131379C>ACA361652250SPINK5c.3085C>A (p.His1029Asn)
c.3175C>A (p.His1059Asn)
c.3118C>A (p.His1040Asn)
c.3091C>A (p.His1031Asn)
5g.148131379C>GCA361652251SPINK5c.3085C>G (p.His1029Asp)
c.3175C>G (p.His1059Asp)
c.3118C>G (p.His1040Asp)
c.3091C>G (p.His1031Asp)
5g.148131379C>TCA361652252SPINK5c.3085C>T (p.His1029Tyr)
c.3175C>T (p.His1059Tyr)
c.3118C>T (p.His1040Tyr)
c.3091C>T (p.His1031Tyr)
5g.148131380A>CCA361652253SPINK5c.3086A>C (p.His1029Pro)
c.3176A>C (p.His1059Pro)
c.3119A>C (p.His1040Pro)
c.3092A>C (p.His1031Pro)
5g.148131380A>GCA361652254SPINK5c.3086A>G (p.His1029Arg)
c.3176A>G (p.His1059Arg)
c.3119A>G (p.His1040Arg)
c.3092A>G (p.His1031Arg)
 gnomAD v4
5g.148131380A>TCA361652255SPINK5c.3086A>T (p.His1029Leu)
c.3176A>T (p.His1059Leu)
c.3119A>T (p.His1040Leu)
c.3092A>T (p.His1031Leu)
5g.148131381T>ACA361652256SPINK5c.3087T>A (p.His1029Gln)
c.3177T>A (p.His1059Gln)
c.3120T>A (p.His1040Gln)
c.3093T>A (p.His1031Gln)
5g.148131381T>CCA128947248SPINK5c.3087T>C (p.His1029=)
c.3177T>C (p.His1059=)
c.3120T>C (p.His1040=)
c.3093T>C (p.His1031=)
 dbSNP
5g.148131381T>GCA361652257SPINK5c.3087T>G (p.His1029Gln)
c.3177T>G (p.His1059Gln)
c.3120T>G (p.His1040Gln)
c.3093T>G (p.His1031Gln)
5g.148131381T=CA1589902934SPINK5c.3087T= (p.His1029=)
c.3177T= (p.His1059=)
c.3120T= (p.His1040=)
c.3093T= (p.His1031=)
5g.148131382G>ACA361652258SPINK5c.3088G>A (p.Glu1030Lys)
c.3178G>A (p.Glu1060Lys)
c.3121G>A (p.Glu1041Lys)
c.3094G>A (p.Glu1032Lys)
 COSMIC COSMIC
5g.148131382G>CCA361652259SPINK5c.3088G>C (p.Glu1030Gln)
c.3178G>C (p.Glu1060Gln)
c.3121G>C (p.Glu1041Gln)
c.3094G>C (p.Glu1032Gln)
5g.148131382G>TCA361652260SPINK5c.3088G>T (p.Glu1030Ter)
c.3178G>T (p.Glu1060Ter)
c.3121G>T (p.Glu1041Ter)
c.3094G>T (p.Glu1032Ter)
5g.148131383A>CCA361652261SPINK5c.3089A>C (p.Glu1030Ala)
c.3179A>C (p.Glu1060Ala)
c.3122A>C (p.Glu1041Ala)
c.3095A>C (p.Glu1032Ala)
5g.148131383A>GCA361652262SPINK5c.3089A>G (p.Glu1030Gly)
c.3179A>G (p.Glu1060Gly)
c.3122A>G (p.Glu1041Gly)
c.3095A>G (p.Glu1032Gly)
5g.148131383A>TCA361652263SPINK5c.3089A>T (p.Glu1030Val)
c.3179A>T (p.Glu1060Val)
c.3122A>T (p.Glu1041Val)
c.3095A>T (p.Glu1032Val)
5g.148131384A>CCA361652264SPINK5c.3090A>C (p.Glu1030Asp)
c.3180A>C (p.Glu1060Asp)
c.3123A>C (p.Glu1041Asp)
c.3096A>C (p.Glu1032Asp)
5g.148131384A>GCA446938328SPINK5c.3090A>G (p.Glu1030=)
c.3180A>G (p.Glu1060=)
c.3123A>G (p.Glu1041=)
c.3096A>G (p.Glu1032=)
5g.148131384A>TCA361652265SPINK5c.3090A>T (p.Glu1030Asp)
c.3180A>T (p.Glu1060Asp)
c.3123A>T (p.Glu1041Asp)
c.3096A>T (p.Glu1032Asp)
5g.148131385A=CA1589902935SPINK5c.3091A= (p.Asn1031=)
c.3181A= (p.Asn1061=)
c.3124A= (p.Asn1042=)
c.3097A= (p.Asn1033=)
5g.148131385A>CCA361652266SPINK5c.3091A>C (p.Asn1031His)
c.3181A>C (p.Asn1061His)
c.3124A>C (p.Asn1042His)
c.3097A>C (p.Asn1033His)
5g.148131385A>GCA361652267SPINK5c.3091A>G (p.Asn1031Asp)
c.3181A>G (p.Asn1061Asp)
c.3124A>G (p.Asn1042Asp)
c.3097A>G (p.Asn1033Asp)
 ClinVar dbSNP
5g.148131385A>TCA361652268SPINK5c.3091A>T (p.Asn1031Tyr)
c.3181A>T (p.Asn1061Tyr)
c.3124A>T (p.Asn1042Tyr)
c.3097A>T (p.Asn1033Tyr)
5g.148131386A>CCA361652271SPINK5c.3092A>C (p.Asn1031Thr)
c.3182A>C (p.Asn1061Thr)
c.3125A>C (p.Asn1042Thr)
c.3098A>C (p.Asn1033Thr)
5g.148131386A>GCA361652270SPINK5c.3092A>G (p.Asn1031Ser)
c.3182A>G (p.Asn1061Ser)
c.3125A>G (p.Asn1042Ser)
c.3098A>G (p.Asn1033Ser)
5g.148131386A>TCA361652269SPINK5c.3092A>T (p.Asn1031Ile)
c.3182A>T (p.Asn1061Ile)
c.3125A>T (p.Asn1042Ile)
c.3098A>T (p.Asn1033Ile)
5g.148131387C>ACA361652272SPINK5c.3093C>A (p.Asn1031Lys)
c.3183C>A (p.Asn1061Lys)
c.3126C>A (p.Asn1042Lys)
c.3099C>A (p.Asn1033Lys)
5g.148131387C=CA1589902936SPINK5c.3093C= (p.Asn1031=)
c.3183C= (p.Asn1061=)
c.3126C= (p.Asn1042=)
c.3099C= (p.Asn1033=)
5g.148131387C>GCA361652273SPINK5c.3093C>G (p.Asn1031Lys)
c.3183C>G (p.Asn1061Lys)
c.3126C>G (p.Asn1042Lys)
c.3099C>G (p.Asn1033Lys)
5g.148131387C>TCA3496233SPINK5c.3093C>T (p.Asn1031=)
c.3183C>T (p.Asn1061=)
c.3126C>T (p.Asn1042=)
c.3099C>T (p.Asn1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131387_148131388insACACA2675860968SPINK5c.3093_3094insACA (p.Asn1031_Leu1032insThr)
c.3183_3184insACA (p.Asn1061_Leu1062insThr)
c.3126_3127insACA (p.Asn1042_Leu1043insThr)
c.3099_3100insACA (p.Asn1033_Leu1034insThr)
 gnomAD v4
5g.148131388C>ACA361652274SPINK5c.3094C>A (p.Leu1032Met)
c.3184C>A (p.Leu1062Met)
c.3127C>A (p.Leu1043Met)
c.3100C>A (p.Leu1034Met)
 COSMIC COSMIC
5g.148131388C>GCA361652275SPINK5c.3094C>G (p.Leu1032Val)
c.3184C>G (p.Leu1062Val)
c.3127C>G (p.Leu1043Val)
c.3100C>G (p.Leu1034Val)
5g.148131388C>TCA446938329SPINK5c.3094C>T (p.Leu1032=)
c.3184C>T (p.Leu1062=)
c.3127C>T (p.Leu1043=)
c.3100C>T (p.Leu1034=)
5g.148131389T>ACA361652276SPINK5c.3095T>A (p.Leu1032Gln)
c.3185T>A (p.Leu1062Gln)
c.3128T>A (p.Leu1043Gln)
c.3101T>A (p.Leu1034Gln)
5g.148131389T>CCA361652277SPINK5c.3095T>C (p.Leu1032Pro)
c.3185T>C (p.Leu1062Pro)
c.3128T>C (p.Leu1043Pro)
c.3101T>C (p.Leu1034Pro)
5g.148131389T>GCA361652278SPINK5c.3095T>G (p.Leu1032Arg)
c.3185T>G (p.Leu1062Arg)
c.3128T>G (p.Leu1043Arg)
c.3101T>G (p.Leu1034Arg)
5g.148131389T=CA1589902937SPINK5c.3095T= (p.Leu1032=)
c.3185T= (p.Leu1062=)
c.3128T= (p.Leu1043=)
c.3101T= (p.Leu1034=)
5g.148131390G>ACA361652279SPINK5c.3095+1G>A (n.3095+1G>A)
c.3185+1G>A (n.3185+1G>A)
c.3128+1G>A (n.3128+1G>A)
c.3101+1G>A (n.3101+1G>A)
5g.148131390G>CCA361652280SPINK5c.3095+1G>C (n.3095+1G>C)
c.3185+1G>C (n.3185+1G>C)
c.3128+1G>C (n.3128+1G>C)
c.3101+1G>C (n.3101+1G>C)
 gnomAD v4
5g.148131390G=CA1589902938SPINK5c.3095+1G= (n.3095+1G=)
c.3185+1G= (n.3185+1G=)
c.3128+1G= (n.3128+1G=)
c.3101+1G= (n.3101+1G=)
5g.148131390G>TCA361652281SPINK5c.3095+1G>T (n.3095+1G>T)
c.3185+1G>T (n.3185+1G>T)
c.3128+1G>T (n.3128+1G>T)
c.3101+1G>T (n.3101+1G>T)
5g.148131393_148131396dupCA3496234SPINK5c.3095+4_3095+7dup (n.3095+4_3095+7dup)
c.3185+4_3185+7dup (n.3185+4_3185+7dup)
c.3128+4_3128+7dup (n.3128+4_3128+7dup)
c.3101+4_3101+7dup (n.3101+4_3101+7dup)
 dbSNP ExAC gnomAD v4
5g.148131391T>ACA361652282SPINK5c.3095+2T>A (n.3095+2T>A)
c.3185+2T>A (n.3185+2T>A)
c.3128+2T>A (n.3128+2T>A)
c.3101+2T>A (n.3101+2T>A)
5g.148131391T>CCA361652283SPINK5c.3095+2T>C (n.3095+2T>C)
c.3185+2T>C (n.3185+2T>C)
c.3128+2T>C (n.3128+2T>C)
c.3101+2T>C (n.3101+2T>C)
 ClinVar dbSNP gnomAD v4
5g.148131391T>GCA361652284SPINK5c.3095+2T>G (n.3095+2T>G)
c.3185+2T>G (n.3185+2T>G)
c.3128+2T>G (n.3128+2T>G)
c.3101+2T>G (n.3101+2T>G)
5g.148131391T=CA1589902940SPINK5c.3095+2T= (n.3095+2T=)
c.3185+2T= (n.3185+2T=)
c.3128+2T= (n.3128+2T=)
c.3101+2T= (n.3101+2T=)
5g.148131391dupCA1589902939SPINK5c.3095+2dup (n.3095+2dup)
c.3185+2dup (n.3185+2dup)
c.3128+2dup (n.3128+2dup)
c.3101+2dup (n.3101+2dup)
 dbSNP gnomAD v4
5g.148131394G>CCA3496235SPINK5c.3095+5G>C (n.3095+5G>C)
c.3185+5G>C (n.3185+5G>C)
c.3128+5G>C (n.3128+5G>C)
c.3101+5G>C (n.3101+5G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131394G=CA1589902941SPINK5c.3095+5G= (n.3095+5G=)
c.3185+5G= (n.3185+5G=)
c.3128+5G= (n.3128+5G=)
c.3101+5G= (n.3101+5G=)
5g.148131395T>GCA563526209SPINK5c.3095+6T>G (n.3095+6T>G)
c.3185+6T>G (n.3185+6T>G)
c.3128+6T>G (n.3128+6T>G)
c.3101+6T>G (n.3101+6T>G)
 dbSNP gnomAD v2 gnomAD v4
5g.148131395T=CA1589902942SPINK5c.3095+6T= (n.3095+6T=)
c.3185+6T= (n.3185+6T=)
c.3128+6T= (n.3128+6T=)
c.3101+6T= (n.3101+6T=)
5g.148131396A=CA1589902943SPINK5c.3095+7A= (n.3095+7A=)
c.3185+7A= (n.3185+7A=)
c.3128+7A= (n.3128+7A=)
c.3101+7A= (n.3101+7A=)
5g.148131396A>GCA128947261SPINK5c.3095+7A>G (n.3095+7A>G)
c.3185+7A>G (n.3185+7A>G)
c.3128+7A>G (n.3128+7A>G)
c.3101+7A>G (n.3101+7A>G)
 dbSNP
5g.148131401dupCA2838442858SPINK5c.3095+12dup (n.3095+12dup)
c.3185+12dup (n.3185+12dup)
c.3128+12dup (n.3128+12dup)
c.3101+12dup (n.3101+12dup)
5g.148131401A>GCA2675860969SPINK5c.3095+12A>G (n.3095+12A>G)
c.3185+12A>G (n.3185+12A>G)
c.3128+12A>G (n.3128+12A>G)
c.3101+12A>G (n.3101+12A>G)
 gnomAD v4
5g.148131403T>CCA3496236SPINK5c.3095+14T>C (n.3095+14T>C)
c.3185+14T>C (n.3185+14T>C)
c.3128+14T>C (n.3128+14T>C)
c.3101+14T>C (n.3101+14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131403T=CA1589902944SPINK5c.3095+14T= (n.3095+14T=)
c.3185+14T= (n.3185+14T=)
c.3128+14T= (n.3128+14T=)
c.3101+14T= (n.3101+14T=)

Number of alleles fetched