Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148123916T>ACA16604889SPINK5c.2622T>A (p.Tyr874Ter)
c.2565T>A (p.Tyr855Ter)
c.2538T>A (p.Tyr846Ter)
 ClinVar dbSNP
5g.148123916T>CCA446937438SPINK5c.2622T>C (p.Tyr874=)
c.2565T>C (p.Tyr855=)
c.2538T>C (p.Tyr846=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123916T>GCA361647927SPINK5c.2622T>G (p.Tyr874Ter)
c.2565T>G (p.Tyr855Ter)
c.2538T>G (p.Tyr846Ter)
5g.148123916T=CA1589899763SPINK5c.2622T= (p.Tyr874=)
c.2565T= (p.Tyr855=)
c.2538T= (p.Tyr846=)
5g.148123917G>ACA361647932SPINK5c.2623G>A (p.Gly875Ser)
c.2566G>A (p.Gly856Ser)
c.2539G>A (p.Gly847Ser)
5g.148123917G>CCA361647934SPINK5c.2623G>C (p.Gly875Arg)
c.2566G>C (p.Gly856Arg)
c.2539G>C (p.Gly847Arg)
5g.148123917G>TCA361647936SPINK5c.2623G>T (p.Gly875Cys)
c.2566G>T (p.Gly856Cys)
c.2539G>T (p.Gly847Cys)
5g.148123918G>ACA361647938SPINK5c.2624G>A (p.Gly875Asp)
c.2567G>A (p.Gly856Asp)
c.2540G>A (p.Gly847Asp)
 ClinVar dbSNP
5g.148123918G>CCA361647940SPINK5c.2624G>C (p.Gly875Ala)
c.2567G>C (p.Gly856Ala)
c.2540G>C (p.Gly847Ala)
5g.148123918G=CA1589899764SPINK5c.2624G= (p.Gly875=)
c.2567G= (p.Gly856=)
c.2540G= (p.Gly847=)
5g.148123918G>TCA361647941SPINK5c.2624G>T (p.Gly875Val)
c.2567G>T (p.Gly856Val)
c.2540G>T (p.Gly847Val)
5g.148123919C>ACA446937440SPINK5c.2625C>A (p.Gly875=)
c.2568C>A (p.Gly856=)
c.2541C>A (p.Gly847=)
5g.148123919C>GCA446937441SPINK5c.2625C>G (p.Gly875=)
c.2568C>G (p.Gly856=)
c.2541C>G (p.Gly847=)
5g.148123919C>TCA446937442SPINK5c.2625C>T (p.Gly875=)
c.2568C>T (p.Gly856=)
c.2541C>T (p.Gly847=)
5g.148123920A>CCA361647942SPINK5c.2626A>C (p.Lys876Gln)
c.2569A>C (p.Lys857Gln)
c.2542A>C (p.Lys848Gln)
5g.148123920A>GCA361647946SPINK5c.2626A>G (p.Lys876Glu)
c.2569A>G (p.Lys857Glu)
c.2542A>G (p.Lys848Glu)
5g.148123920A>TCA361647943SPINK5c.2626A>T (p.Lys876Ter)
c.2569A>T (p.Lys857Ter)
c.2542A>T (p.Lys848Ter)
5g.148123921A>CCA361647949SPINK5c.2627A>C (p.Lys876Thr)
c.2570A>C (p.Lys857Thr)
c.2543A>C (p.Lys848Thr)
5g.148123921A>GCA361647955SPINK5c.2627A>G (p.Lys876Arg)
c.2570A>G (p.Lys857Arg)
c.2543A>G (p.Lys848Arg)
5g.148123921A>TCA361647957SPINK5c.2627A>T (p.Lys876Met)
c.2570A>T (p.Lys857Met)
c.2543A>T (p.Lys848Met)
5g.148123922G>ACA446937443SPINK5c.2628G>A (p.Lys876=)
c.2571G>A (p.Lys857=)
c.2544G>A (p.Lys848=)
 gnomAD v4
5g.148123922G>CCA361647958SPINK5c.2628G>C (p.Lys876Asn)
c.2571G>C (p.Lys857Asn)
c.2544G>C (p.Lys848Asn)
 gnomAD v4
5g.148123922G>TCA361647959SPINK5c.2628G>T (p.Lys876Asn)
c.2571G>T (p.Lys857Asn)
c.2544G>T (p.Lys848Asn)
5g.148123923A=CA1589899765SPINK5c.2629A= (p.Met877=)
c.2572A= (p.Met858=)
c.2545A= (p.Met849=)
5g.148123923A>CCA128939905SPINK5c.2629A>C (p.Met877Leu)
c.2572A>C (p.Met858Leu)
c.2545A>C (p.Met849Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.148123923A>GCA361647966SPINK5c.2629A>G (p.Met877Val)
c.2572A>G (p.Met858Val)
c.2545A>G (p.Met849Val)
5g.148123923A>TCA361647973SPINK5c.2629A>T (p.Met877Leu)
c.2572A>T (p.Met858Leu)
c.2545A>T (p.Met849Leu)
5g.148123924T>ACA361647976SPINK5c.2630T>A (p.Met877Lys)
c.2573T>A (p.Met858Lys)
c.2546T>A (p.Met849Lys)
 gnomAD v4
5g.148123924T>CCA361647979SPINK5c.2630T>C (p.Met877Thr)
c.2573T>C (p.Met858Thr)
c.2546T>C (p.Met849Thr)
 gnomAD v4
5g.148123924T>GCA361647981SPINK5c.2630T>G (p.Met877Arg)
c.2573T>G (p.Met858Arg)
c.2546T>G (p.Met849Arg)
 dbSNP
5g.148123924T=CA1589899766SPINK5c.2630T= (p.Met877=)
c.2573T= (p.Met858=)
c.2546T= (p.Met849=)
5g.148123925G>ACA361647987SPINK5c.2631G>A (p.Met877Ile)
c.2574G>A (p.Met858Ile)
c.2547G>A (p.Met849Ile)
 gnomAD v4
5g.148123925G>CCA361647983SPINK5c.2631G>C (p.Met877Ile)
c.2574G>C (p.Met858Ile)
c.2547G>C (p.Met849Ile)
5g.148123925G>TCA361647985SPINK5c.2631G>T (p.Met877Ile)
c.2574G>T (p.Met858Ile)
c.2547G>T (p.Met849Ile)
5g.148123926C>ACA361647990SPINK5c.2632C>A (p.His878Asn)
c.2575C>A (p.His859Asn)
c.2548C>A (p.His850Asn)
5g.148123926C=CA1589899767SPINK5c.2632C= (p.His878=)
c.2575C= (p.His859=)
c.2548C= (p.His850=)
5g.148123926C>GCA361647999SPINK5c.2632C>G (p.His878Asp)
c.2575C>G (p.His859Asp)
c.2548C>G (p.His850Asp)
5g.148123926C>TCA3496047SPINK5c.2632C>T (p.His878Tyr)
c.2575C>T (p.His859Tyr)
c.2548C>T (p.His850Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123927A=CA1589899768SPINK5c.2633A= (p.His878=)
c.2576A= (p.His859=)
c.2549A= (p.His850=)
5g.148123927A>CCA361648007SPINK5c.2633A>C (p.His878Pro)
c.2576A>C (p.His859Pro)
c.2549A>C (p.His850Pro)
5g.148123927A>GCA361648009SPINK5c.2633A>G (p.His878Arg)
c.2576A>G (p.His859Arg)
c.2549A>G (p.His850Arg)
5g.148123927A>TCA361648008SPINK5c.2633A>T (p.His878Leu)
c.2576A>T (p.His859Leu)
c.2549A>T (p.His850Leu)
 dbSNP gnomAD v2 gnomAD v4
5g.148123928C>ACA361648010SPINK5c.2634C>A (p.His878Gln)
c.2577C>A (p.His859Gln)
c.2550C>A (p.His850Gln)
5g.148123928C>GCA361648012SPINK5c.2634C>G (p.His878Gln)
c.2577C>G (p.His859Gln)
c.2550C>G (p.His850Gln)
5g.148123928C>TCA446937450SPINK5c.2634C>T (p.His878=)
c.2577C>T (p.His859=)
c.2550C>T (p.His850=)
 gnomAD v4
5g.148123929A=CA1589899769SPINK5c.2635A= (p.Ile879=)
c.2578A= (p.Ile860=)
c.2551A= (p.Ile851=)
5g.148123929A>CCA361648013SPINK5c.2635A>C (p.Ile879Leu)
c.2578A>C (p.Ile860Leu)
c.2551A>C (p.Ile851Leu)
5g.148123929A>GCA361648015SPINK5c.2635A>G (p.Ile879Val)
c.2578A>G (p.Ile860Val)
c.2551A>G (p.Ile851Val)
 dbSNP
5g.148123929A>TCA361648016SPINK5c.2635A>T (p.Ile879Phe)
c.2578A>T (p.Ile860Phe)
c.2551A>T (p.Ile851Phe)
5g.148123930T>ACA361648017SPINK5c.2636T>A (p.Ile879Asn)
c.2579T>A (p.Ile860Asn)
c.2552T>A (p.Ile851Asn)
5g.148123930T>CCA361648019SPINK5c.2636T>C (p.Ile879Thr)
c.2579T>C (p.Ile860Thr)
c.2552T>C (p.Ile851Thr)
5g.148123930T>GCA361648020SPINK5c.2636T>G (p.Ile879Ser)
c.2579T>G (p.Ile860Ser)
c.2552T>G (p.Ile851Ser)
5g.148123931C>ACA446937453SPINK5c.2637C>A (p.Ile879=)
c.2580C>A (p.Ile860=)
c.2553C>A (p.Ile851=)
5g.148123931C=CA1589899770SPINK5c.2637C= (p.Ile879=)
c.2580C= (p.Ile860=)
c.2553C= (p.Ile851=)
5g.148123931C>GCA361648022SPINK5c.2637C>G (p.Ile879Met)
c.2580C>G (p.Ile860Met)
c.2553C>G (p.Ile851Met)
5g.148123931C>TCA3496048SPINK5c.2637C>T (p.Ile879=)
c.2580C>T (p.Ile860=)
c.2553C>T (p.Ile851=)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123932A>CCA361648024SPINK5c.2638A>C (p.Asn880His)
c.2581A>C (p.Asn861His)
c.2554A>C (p.Asn852His)
5g.148123932A>GCA361648027SPINK5c.2638A>G (p.Asn880Asp)
c.2581A>G (p.Asn861Asp)
c.2554A>G (p.Asn852Asp)
5g.148123932A>TCA361648028SPINK5c.2638A>T (p.Asn880Tyr)
c.2581A>T (p.Asn861Tyr)
c.2554A>T (p.Asn852Tyr)
5g.148123933A>CCA361648032SPINK5c.2639A>C (p.Asn880Thr)
c.2582A>C (p.Asn861Thr)
c.2555A>C (p.Asn852Thr)
5g.148123933A>GCA361648030SPINK5c.2639A>G (p.Asn880Ser)
c.2582A>G (p.Asn861Ser)
c.2555A>G (p.Asn852Ser)
5g.148123933A>TCA361648031SPINK5c.2639A>T (p.Asn880Ile)
c.2582A>T (p.Asn861Ile)
c.2555A>T (p.Asn852Ile)
5g.148123934T>ACA361648034SPINK5c.2640T>A (p.Asn880Lys)
c.2583T>A (p.Asn861Lys)
c.2556T>A (p.Asn852Lys)
 gnomAD v4
5g.148123934T>CCA446937455SPINK5c.2640T>C (p.Asn880=)
c.2583T>C (p.Asn861=)
c.2556T>C (p.Asn852=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123934T>GCA361648036SPINK5c.2640T>G (p.Asn880Lys)
c.2583T>G (p.Asn861Lys)
c.2556T>G (p.Asn852Lys)
5g.148123934T=CA1589899771SPINK5c.2640T= (p.Asn880=)
c.2583T= (p.Asn861=)
c.2556T= (p.Asn852=)
5g.148123935A>CCA361648040SPINK5c.2641A>C (p.Lys881Gln)
c.2584A>C (p.Lys862Gln)
c.2557A>C (p.Lys853Gln)
5g.148123935A>GCA361648041SPINK5c.2641A>G (p.Lys881Glu)
c.2584A>G (p.Lys862Glu)
c.2557A>G (p.Lys853Glu)
5g.148123935A>TCA361648044SPINK5c.2641A>T (p.Lys881Ter)
c.2584A>T (p.Lys862Ter)
c.2557A>T (p.Lys853Ter)
5g.148123936A>CCA361648046SPINK5c.2642A>C (p.Lys881Thr)
c.2585A>C (p.Lys862Thr)
c.2558A>C (p.Lys853Thr)
5g.148123936A>GCA361648047SPINK5c.2642A>G (p.Lys881Arg)
c.2585A>G (p.Lys862Arg)
c.2558A>G (p.Lys853Arg)
5g.148123936A>TCA361648048SPINK5c.2642A>T (p.Lys881Ile)
c.2585A>T (p.Lys862Ile)
c.2558A>T (p.Lys853Ile)
5g.148123937A>CCA361648049SPINK5c.2643A>C (p.Lys881Asn)
c.2586A>C (p.Lys862Asn)
c.2559A>C (p.Lys853Asn)
5g.148123937A>GCA446937456SPINK5c.2643A>G (p.Lys881=)
c.2586A>G (p.Lys862=)
c.2559A>G (p.Lys853=)
5g.148123937A>TCA361648050SPINK5c.2643A>T (p.Lys881Asn)
c.2586A>T (p.Lys862Asn)
c.2559A>T (p.Lys853Asn)
5g.148123938T>ACA361648054SPINK5c.2644T>A (p.Cys882Ser)
c.2587T>A (p.Cys863Ser)
c.2560T>A (p.Cys854Ser)
5g.148123938T>CCA361648055SPINK5c.2644T>C (p.Cys882Arg)
c.2587T>C (p.Cys863Arg)
c.2560T>C (p.Cys854Arg)
5g.148123938T>GCA361648052SPINK5c.2644T>G (p.Cys882Gly)
c.2587T>G (p.Cys863Gly)
c.2560T>G (p.Cys854Gly)
5g.148123939G>ACA361648057SPINK5c.2645G>A (p.Cys882Tyr)
c.2588G>A (p.Cys863Tyr)
c.2561G>A (p.Cys854Tyr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.148123939G>CCA361648058SPINK5c.2645G>C (p.Cys882Ser)
c.2588G>C (p.Cys863Ser)
c.2561G>C (p.Cys854Ser)
5g.148123939G=CA1589899772SPINK5c.2645G= (p.Cys882=)
c.2588G= (p.Cys863=)
c.2561G= (p.Cys854=)
5g.148123939G>TCA361648060SPINK5c.2645G>T (p.Cys882Phe)
c.2588G>T (p.Cys863Phe)
c.2561G>T (p.Cys854Phe)
 gnomAD v4
5g.148123940T>ACA361648061SPINK5c.2646T>A (p.Cys882Ter)
c.2589T>A (p.Cys863Ter)
c.2562T>A (p.Cys854Ter)
5g.148123940T>CCA446937457SPINK5c.2646T>C (p.Cys882=)
c.2589T>C (p.Cys863=)
c.2562T>C (p.Cys854=)
5g.148123940T>GCA361648062SPINK5c.2646T>G (p.Cys882Trp)
c.2589T>G (p.Cys863Trp)
c.2562T>G (p.Cys854Trp)
5g.148123941G>ACA361648064SPINK5c.2647G>A (p.Ala883Thr)
c.2590G>A (p.Ala864Thr)
c.2563G>A (p.Ala855Thr)
5g.148123941G>CCA361648066SPINK5c.2647G>C (p.Ala883Pro)
c.2590G>C (p.Ala864Pro)
c.2563G>C (p.Ala855Pro)
5g.148123941G>TCA361648067SPINK5c.2647G>T (p.Ala883Ser)
c.2590G>T (p.Ala864Ser)
c.2563G>T (p.Ala855Ser)
5g.148123942C>ACA361648069SPINK5c.2648C>A (p.Ala883Asp)
c.2591C>A (p.Ala864Asp)
c.2564C>A (p.Ala855Asp)
5g.148123942C>GCA361648071SPINK5c.2648C>G (p.Ala883Gly)
c.2591C>G (p.Ala864Gly)
c.2564C>G (p.Ala855Gly)
5g.148123942C>TCA361648072SPINK5c.2648C>T (p.Ala883Val)
c.2591C>T (p.Ala864Val)
c.2564C>T (p.Ala855Val)
5g.148123942_148123944delinsCTACA1589899773SPINK5c.2648_2650delinsCTA (p.Ala883=)
c.2591_2593delinsCTA (p.Ala864=)
c.2564_2566delinsCTA (p.Ala855=)
5g.148123943T>ACA446937459SPINK5c.2649T>A (p.Ala883=)
c.2592T>A (p.Ala864=)
c.2565T>A (p.Ala855=)
5g.148123943T>CCA446937460SPINK5c.2649T>C (p.Ala883=)
c.2592T>C (p.Ala864=)
c.2565T>C (p.Ala855=)
5g.148123943T>GCA446937461SPINK5c.2649T>G (p.Ala883=)
c.2592T>G (p.Ala864=)
c.2565T>G (p.Ala855=)
5g.148123944_148123945delCA805387494SPINK5c.2650_2651del (p.Met884ValfsTer6)
c.2593_2594del (p.Met865ValfsTer?)
c.2593_2594del (p.Met865ValfsTer6)
c.2566_2567del (p.Met856ValfsTer6)
 dbSNP gnomAD v3 gnomAD v4
5g.148123944A=CA1589899774SPINK5c.2650A= (p.Met884=)
c.2593A= (p.Met865=)
c.2566A= (p.Met856=)
5g.148123944A>CCA361648074SPINK5c.2650A>C (p.Met884Leu)
c.2593A>C (p.Met865Leu)
c.2566A>C (p.Met856Leu)
5g.148123944A>GCA128939915SPINK5c.2650A>G (p.Met884Val)
c.2593A>G (p.Met865Val)
c.2566A>G (p.Met856Val)
 ClinVar dbSNP gnomAD v4
5g.148123944A>TCA361648073SPINK5c.2650A>T (p.Met884Leu)
c.2593A>T (p.Met865Leu)
c.2566A>T (p.Met856Leu)
 dbSNP
5g.148123945T>ACA361648078SPINK5c.2651T>A (p.Met884Lys)
c.2594T>A (p.Met865Lys)
c.2567T>A (p.Met856Lys)
5g.148123945T>CCA3496049SPINK5c.2651T>C (p.Met884Thr)
c.2594T>C (p.Met865Thr)
c.2567T>C (p.Met856Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123945T>GCA361648080SPINK5c.2651T>G (p.Met884Arg)
c.2594T>G (p.Met865Arg)
c.2567T>G (p.Met856Arg)
5g.148123945T=CA1589899775SPINK5c.2651T= (p.Met884=)
c.2594T= (p.Met865=)
c.2567T= (p.Met856=)
5g.148123946G>ACA361648082SPINK5c.2652G>A (p.Met884Ile)
c.2595G>A (p.Met865Ile)
c.2568G>A (p.Met856Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123946G>CCA361648084SPINK5c.2652G>C (p.Met884Ile)
c.2595G>C (p.Met865Ile)
c.2568G>C (p.Met856Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.148123946G=CA1589899776SPINK5c.2652G= (p.Met884=)
c.2595G= (p.Met865=)
c.2568G= (p.Met856=)
5g.148123946G>TCA361648085SPINK5c.2652G>T (p.Met884Ile)
c.2595G>T (p.Met865Ile)
c.2568G>T (p.Met856Ile)
5g.148123947T>ACA361648087SPINK5c.2653T>A (p.Cys885Ser)
c.2596T>A (p.Cys866Ser)
c.2569T>A (p.Cys857Ser)
5g.148123947T>CCA361648091SPINK5c.2653T>C (p.Cys885Arg)
c.2596T>C (p.Cys866Arg)
c.2569T>C (p.Cys857Arg)
5g.148123947T>GCA361648089SPINK5c.2653T>G (p.Cys885Gly)
c.2596T>G (p.Cys866Gly)
c.2569T>G (p.Cys857Gly)
5g.148123947T=CA1589899777SPINK5c.2653T= (p.Cys885=)
c.2596T= (p.Cys866=)
c.2569T= (p.Cys857=)
5g.148123948G>ACA361648092SPINK5c.2654G>A (p.Cys885Tyr)
c.2597G>A (p.Cys866Tyr)
c.2570G>A (p.Cys857Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123948G>CCA361648094SPINK5c.2654G>C (p.Cys885Ser)
c.2597G>C (p.Cys866Ser)
c.2570G>C (p.Cys857Ser)
5g.148123948G=CA1589899778SPINK5c.2654G= (p.Cys885=)
c.2597G= (p.Cys866=)
c.2570G= (p.Cys857=)
5g.148123948G>TCA361648096SPINK5c.2654G>T (p.Cys885Phe)
c.2597G>T (p.Cys866Phe)
c.2570G>T (p.Cys857Phe)
5g.148123948_148123950dupCA563525484SPINK5c.2654_2656dup (p.Cys885_Gln886insArg)
c.2597_2599dup (p.Cys866_Gln867insArg)
c.2570_2572dup (p.Cys857_Gln858insArg)
 dbSNP gnomAD v2 gnomAD v4
5g.148123949T>ACA361648098SPINK5c.2655T>A (p.Cys885Ter)
c.2598T>A (p.Cys866Ter)
c.2571T>A (p.Cys857Ter)
5g.148123949T>CCA446937463SPINK5c.2655T>C (p.Cys885=)
c.2598T>C (p.Cys866=)
c.2571T>C (p.Cys857=)
5g.148123949T>GCA361648099SPINK5c.2655T>G (p.Cys885Trp)
c.2598T>G (p.Cys866Trp)
c.2571T>G (p.Cys857Trp)
5g.148123950C>ACA361648103SPINK5c.2656C>A (p.Gln886Lys)
c.2599C>A (p.Gln867Lys)
c.2572C>A (p.Gln858Lys)
5g.148123950C>GCA361648104SPINK5c.2656C>G (p.Gln886Glu)
c.2599C>G (p.Gln867Glu)
c.2572C>G (p.Gln858Glu)
5g.148123950C>TCA361648101SPINK5c.2656C>T (p.Gln886Ter)
c.2599C>T (p.Gln867Ter)
c.2572C>T (p.Gln858Ter)
 gnomAD v4
5g.148123951A>CCA361648111SPINK5c.2657A>C (p.Gln886Pro)
c.2600A>C (p.Gln867Pro)
c.2573A>C (p.Gln858Pro)
 COSMIC COSMIC
5g.148123951A>GCA361648106SPINK5c.2657A>G (p.Gln886Arg)
c.2600A>G (p.Gln867Arg)
c.2573A>G (p.Gln858Arg)
5g.148123951A>TCA361648108SPINK5c.2657A>T (p.Gln886Leu)
c.2600A>T (p.Gln867Leu)
c.2573A>T (p.Gln858Leu)
5g.148123952G>ACA446937464SPINK5c.2658G>A (p.Gln886=)
c.2601G>A (p.Gln867=)
c.2574G>A (p.Gln858=)
5g.148123952G>CCA361648113SPINK5c.2658G>C (p.Gln886His)
c.2601G>C (p.Gln867His)
c.2574G>C (p.Gln858His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123952G=CA1589899779SPINK5c.2658G= (p.Gln886=)
c.2601G= (p.Gln867=)
c.2574G= (p.Gln858=)
5g.148123952G>TCA361648115SPINK5c.2658G>T (p.Gln886His)
c.2601G>T (p.Gln867His)
c.2574G>T (p.Gln858His)
5g.148123953A>CCA361648117SPINK5c.2659A>C (p.Ser887Arg)
c.2602A>C (p.Ser868Arg)
c.2575A>C (p.Ser859Arg)
5g.148123953A>GCA361648119SPINK5c.2659A>G (p.Ser887Gly)
c.2602A>G (p.Ser868Gly)
c.2575A>G (p.Ser859Gly)
5g.148123953A>TCA361648121SPINK5c.2659A>T (p.Ser887Cys)
c.2602A>T (p.Ser868Cys)
c.2575A>T (p.Ser859Cys)
5g.148123954G>ACA361648122SPINK5c.2660G>A (p.Ser887Asn)
c.2603G>A (p.Ser868Asn)
c.2576G>A (p.Ser859Asn)
5g.148123954G>CCA361648124SPINK5c.2660G>C (p.Ser887Thr)
c.2603G>C (p.Ser868Thr)
c.2576G>C (p.Ser859Thr)
5g.148123954G>TCA361648125SPINK5c.2660G>T (p.Ser887Ile)
c.2603G>T (p.Ser868Ile)
c.2576G>T (p.Ser859Ile)
5g.148123955C>ACA361648127SPINK5c.2661C>A (p.Ser887Arg)
c.2604C>A (p.Ser868Arg)
c.2577C>A (p.Ser859Arg)
 gnomAD v4
5g.148123955C=CA1589899780SPINK5c.2661C= (p.Ser887=)
c.2604C= (p.Ser868=)
c.2577C= (p.Ser859=)
5g.148123955C>GCA3496050SPINK5c.2661C>G (p.Ser887Arg)
c.2604C>G (p.Ser868Arg)
c.2577C>G (p.Ser859Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123955C>TCA446937465SPINK5c.2661C>T (p.Ser887=)
c.2604C>T (p.Ser868=)
c.2577C>T (p.Ser859=)
5g.148123956A=CA1589899781SPINK5c.2662A= (p.Ile888=)
c.2605A= (p.Ile869=)
c.2578A= (p.Ile860=)
5g.148123956A>CCA361648130SPINK5c.2662A>C (p.Ile888Leu)
c.2605A>C (p.Ile869Leu)
c.2578A>C (p.Ile860Leu)
5g.148123956A>GCA361648132SPINK5c.2662A>G (p.Ile888Val)
c.2605A>G (p.Ile869Val)
c.2578A>G (p.Ile860Val)
5g.148123956A>TCA3496051SPINK5c.2662A>T (p.Ile888Phe)
c.2605A>T (p.Ile869Phe)
c.2578A>T (p.Ile860Phe)
 dbSNP ExAC gnomAD v2
5g.148123957T>ACA361648133SPINK5c.2663T>A (p.Ile888Asn)
c.2606T>A (p.Ile869Asn)
c.2579T>A (p.Ile860Asn)
5g.148123957T>CCA361648135SPINK5c.2663T>C (p.Ile888Thr)
c.2606T>C (p.Ile869Thr)
c.2579T>C (p.Ile860Thr)
5g.148123957T>GCA361648136SPINK5c.2663T>G (p.Ile888Ser)
c.2606T>G (p.Ile869Ser)
c.2579T>G (p.Ile860Ser)
5g.148123958C>ACA446937466SPINK5c.2664C>A (p.Ile888=)
c.2607C>A (p.Ile869=)
c.2580C>A (p.Ile860=)
5g.148123958C>GCA361648138SPINK5c.2664C>G (p.Ile888Met)
c.2607C>G (p.Ile869Met)
c.2580C>G (p.Ile860Met)
5g.148123958C>TCA446937467SPINK5c.2664C>T (p.Ile888=)
c.2607C>T (p.Ile869=)
c.2580C>T (p.Ile860=)
5g.148123959T>ACA361648143SPINK5c.2665T>A (p.Phe889Ile)
c.2608T>A
c.2608T>A (p.Phe870Ile)
c.2581T>A (p.Phe861Ile)
5g.148123959T>CCA361648141SPINK5c.2665T>C (p.Phe889Leu)
c.2608T>C
c.2608T>C (p.Phe870Leu)
c.2581T>C (p.Phe861Leu)
5g.148123959T>GCA361648140SPINK5c.2665T>G (p.Phe889Val)
c.2608T>G
c.2608T>G (p.Phe870Val)
c.2581T>G (p.Phe861Val)
5g.148123960T>ACA361648144SPINK5c.2666T>A (p.Phe889Tyr)
c.2609T>A
c.2609T>A (p.Phe870Tyr)
c.2582T>A (p.Phe861Tyr)
5g.148123960T>CCA361648146SPINK5c.2666T>C (p.Phe889Ser)
c.2609T>C
c.2609T>C (p.Phe870Ser)
c.2582T>C (p.Phe861Ser)
5g.148123960T>GCA361648147SPINK5c.2666T>G (p.Phe889Cys)
c.2609T>G
c.2609T>G (p.Phe870Cys)
c.2582T>G (p.Phe861Cys)
5g.148123961G>ACA361648149SPINK5c.2666+1G>A (n.2666+1G>A)
c.2609+1G>A (n.2609+1G>A)
c.2582+1G>A (n.2582+1G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148123961G>CCA361648151SPINK5c.2666+1G>C (n.2666+1G>C)
c.2609+1G>C (n.2609+1G>C)
c.2582+1G>C (n.2582+1G>C)
5g.148123961G=CA1589899782SPINK5c.2666+1G= (n.2666+1G=)
c.2609+1G= (n.2609+1G=)
c.2582+1G= (n.2582+1G=)
5g.148123961G>TCA361648153SPINK5c.2666+1G>T (n.2666+1G>T)
c.2609+1G>T (n.2609+1G>T)
c.2582+1G>T (n.2582+1G>T)
5g.148123962T>ACA361648157SPINK5c.2666+2T>A (n.2666+2T>A)
c.2609+2T>A (n.2609+2T>A)
c.2582+2T>A (n.2582+2T>A)
5g.148123962T>CCA361648155SPINK5c.2666+2T>C (n.2666+2T>C)
c.2609+2T>C (n.2609+2T>C)
c.2582+2T>C (n.2582+2T>C)
5g.148123962T>GCA361648154SPINK5c.2666+2T>G (n.2666+2T>G)
c.2609+2T>G (n.2609+2T>G)
c.2582+2T>G (n.2582+2T>G)
5g.148123962_148123963delCA2675858019SPINK5c.2666+2_2666+3del (n.2666+2_2666+3del)
c.2609+2_2609+3del (n.2609+2_2609+3del)
c.2582+2_2582+3del (n.2582+2_2582+3del)
 gnomAD v4
5g.148123964C>ACA2675858020SPINK5c.2666+4C>A (n.2666+4C>A)
c.2609+4C>A (n.2609+4C>A)
c.2582+4C>A (n.2582+4C>A)
 gnomAD v4
5g.148123964C=CA1589899783SPINK5c.2666+4C= (n.2666+4C=)
c.2609+4C= (n.2609+4C=)
c.2582+4C= (n.2582+4C=)
5g.148123964C>GCA563525490SPINK5c.2666+4C>G (n.2666+4C>G)
c.2609+4C>G (n.2609+4C>G)
c.2582+4C>G (n.2582+4C>G)
 dbSNP gnomAD v2 gnomAD v4
5g.148123964C>TCA3496052SPINK5c.2666+4C>T (n.2666+4C>T)
c.2609+4C>T (n.2609+4C>T)
c.2582+4C>T (n.2582+4C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123965G>ACA3496053SPINK5c.2666+5G>A (n.2666+5G>A)
c.2609+5G>A (n.2609+5G>A)
c.2582+5G>A (n.2582+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123965G=CA1589899784SPINK5c.2666+5G= (n.2666+5G=)
c.2609+5G= (n.2609+5G=)
c.2582+5G= (n.2582+5G=)
5g.148123965G>TCA563525492SPINK5c.2666+5G>T (n.2666+5G>T)
c.2609+5G>T (n.2609+5G>T)
c.2582+5G>T (n.2582+5G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.148123966T>CCA2675858021SPINK5c.2666+6T>C (n.2666+6T>C)
c.2609+6T>C (n.2609+6T>C)
c.2582+6T>C (n.2582+6T>C)
 gnomAD v4
5g.148123970A>GCA2675858022SPINK5c.2666+10A>G (n.2666+10A>G)
c.2609+10A>G (n.2609+10A>G)
c.2582+10A>G (n.2582+10A>G)
 gnomAD v4
5g.148123971A=CA1589899785SPINK5c.2666+11A= (n.2666+11A=)
c.2609+11A= (n.2609+11A=)
c.2582+11A= (n.2582+11A=)
5g.148123971A>TCA1589899786SPINK5c.2666+11A>T (n.2666+11A>T)
c.2609+11A>T (n.2609+11A>T)
c.2582+11A>T (n.2582+11A>T)
 dbSNP
5g.148123972G>ACA563525493SPINK5c.2666+12G>A (n.2666+12G>A)
c.2609+12G>A (n.2609+12G>A)
c.2582+12G>A (n.2582+12G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123972G=CA1589899787SPINK5c.2666+12G= (n.2666+12G=)
c.2609+12G= (n.2609+12G=)
c.2582+12G= (n.2582+12G=)
5g.148123972G>TCA805387544SPINK5c.2666+12G>T (n.2666+12G>T)
c.2609+12G>T (n.2609+12G>T)
c.2582+12G>T (n.2582+12G>T)
 dbSNP gnomAD v3 gnomAD v4
5g.148123973G>ACA2675858023SPINK5c.2666+13G>A (n.2666+13G>A)
c.2609+13G>A (n.2609+13G>A)
c.2582+13G>A (n.2582+13G>A)
 gnomAD v4
5g.148123973G=CA1589899788SPINK5c.2666+13G= (n.2666+13G=)
c.2609+13G= (n.2609+13G=)
c.2582+13G= (n.2582+13G=)
5g.148123973G>TCA1589899789SPINK5c.2666+13G>T (n.2666+13G>T)
c.2609+13G>T (n.2609+13G>T)
c.2582+13G>T (n.2582+13G>T)
 dbSNP gnomAD v4
5g.148123974T>CCA3496054SPINK5c.2666+14T>C (n.2666+14T>C)
c.2609+14T>C (n.2609+14T>C)
c.2582+14T>C (n.2582+14T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123974T=CA1589899790SPINK5c.2666+14T= (n.2666+14T=)
c.2609+14T= (n.2609+14T=)
c.2582+14T= (n.2582+14T=)
5g.148123976T>CCA2675858026SPINK5c.2666+16T>C (n.2666+16T>C)
c.2609+16T>C (n.2609+16T>C)
c.2582+16T>C (n.2582+16T>C)
 gnomAD v4
5g.148123977A>CCA2675858027SPINK5c.2666+17A>C (n.2666+17A>C)
c.2609+17A>C (n.2609+17A>C)
c.2582+17A>C (n.2582+17A>C)
 gnomAD v4
5g.148123978T>ACA2675858028SPINK5c.2666+18T>A (n.2666+18T>A)
c.2609+18T>A (n.2609+18T>A)
c.2582+18T>A (n.2582+18T>A)
 gnomAD v4
5g.148123978T>CCA3496055SPINK5c.2666+18T>C (n.2666+18T>C)
c.2609+18T>C (n.2609+18T>C)
c.2582+18T>C (n.2582+18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123978T=CA1589899791SPINK5c.2666+18T= (n.2666+18T=)
c.2609+18T= (n.2609+18T=)
c.2582+18T= (n.2582+18T=)
5g.148123979C>GCA2578443684SPINK5c.2666+19C>G (n.2666+19C>G)
c.2609+19C>G (n.2609+19C>G)
c.2582+19C>G (n.2582+19C>G)
5g.148123980A=CA1589899792SPINK5c.2666+20A= (n.2666+20A=)
c.2609+20A= (n.2609+20A=)
c.2582+20A= (n.2582+20A=)
5g.148123980A>GCA3496056SPINK5c.2666+20A>G (n.2666+20A>G)
c.2609+20A>G (n.2609+20A>G)
c.2582+20A>G (n.2582+20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123981A>GCA2578443685SPINK5c.2666+21A>G (n.2666+21A>G)
c.2609+21A>G (n.2609+21A>G)
c.2582+21A>G (n.2582+21A>G)
5g.148123981_148124001dupCA805387557SPINK5c.2666+21_2666+41dup (n.2666+21_2666+41dup)
c.2609+21_2609+41dup (n.2609+21_2609+41dup)
c.2582+21_2582+41dup (n.2582+21_2582+41dup)
 dbSNP gnomAD v4
5g.148123984A=CA1589899793SPINK5c.2666+24A= (n.2666+24A=)
c.2609+24A= (n.2609+24A=)
c.2582+24A= (n.2582+24A=)
5g.148123984A>CCA3496057SPINK5c.2666+24A>C (n.2666+24A>C)
c.2609+24A>C (n.2609+24A>C)
c.2582+24A>C (n.2582+24A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123987T>CCA1589899795SPINK5c.2666+27T>C (n.2666+27T>C)
c.2609+27T>C (n.2609+27T>C)
c.2582+27T>C (n.2582+27T>C)
 dbSNP gnomAD v4
5g.148123987T=CA1589899794SPINK5c.2666+27T= (n.2666+27T=)
c.2609+27T= (n.2609+27T=)
c.2582+27T= (n.2582+27T=)
5g.148123989G>CCA2675858030SPINK5c.2666+29G>C (n.2666+29G>C)
c.2609+29G>C (n.2609+29G>C)
c.2582+29G>C (n.2582+29G>C)
 gnomAD v4
5g.148123989G>TCA2675858029SPINK5c.2666+29G>T (n.2666+29G>T)
c.2609+29G>T (n.2609+29G>T)
c.2582+29G>T (n.2582+29G>T)
 gnomAD v4
5g.148123990A=CA1589899797SPINK5c.2666+30A= (n.2666+30A=)
c.2609+30A= (n.2609+30A=)
c.2582+30A= (n.2582+30A=)
5g.148123990A>GCA1589899798SPINK5c.2666+30A>G (n.2666+30A>G)
c.2609+30A>G (n.2609+30A>G)
c.2582+30A>G (n.2582+30A>G)
 dbSNP gnomAD v4
5g.148123990A>TCA2675858031SPINK5c.2666+30A>T (n.2666+30A>T)
c.2609+30A>T (n.2609+30A>T)
c.2582+30A>T (n.2582+30A>T)
 gnomAD v4
5g.148123990_148123994delinsATAGTCA1589899796SPINK5c.2666+30_2666+34delinsATAGT (n.2666+30_2666+34delinsATAGT)
c.2609+30_2609+34delinsATAGT (n.2609+30_2609+34delinsATAGT)
c.2582+30_2582+34delinsATAGT (n.2582+30_2582+34delinsATAGT)
5g.148123991T>CCA2768831829SPINK5c.2666+31T>C (n.2666+31T>C)
c.2609+31T>C (n.2609+31T>C)
c.2582+31T>C (n.2582+31T>C)
5g.148123991T=CA1589899799SPINK5c.2666+31T= (n.2666+31T=)
c.2609+31T= (n.2609+31T=)
c.2582+31T= (n.2582+31T=)
5g.148123992_148123995delCA563525497SPINK5c.2666+32_2666+35del (n.2666+32_2666+35del)
c.2609+32_2609+35del (n.2609+32_2609+35del)
c.2582+32_2582+35del (n.2582+32_2582+35del)
 dbSNP gnomAD v2 gnomAD v4
5g.148123992dupCA563525498SPINK5c.2666+32dup (n.2666+32dup)
c.2609+32dup (n.2609+32dup)
c.2582+32dup (n.2582+32dup)
 dbSNP gnomAD v2 gnomAD v4
5g.148123993G>ACA1589899801SPINK5c.2666+33G>A (n.2666+33G>A)
c.2609+33G>A (n.2609+33G>A)
c.2582+33G>A (n.2582+33G>A)
 dbSNP
5g.148123993G=CA1589899800SPINK5c.2666+33G= (n.2666+33G=)
c.2609+33G= (n.2609+33G=)
c.2582+33G= (n.2582+33G=)
5g.148123993G>TCA650631388SPINK5c.2666+33G>T (n.2666+33G>T)
c.2609+33G>T (n.2609+33G>T)
c.2582+33G>T (n.2582+33G>T)
 COSMIC
5g.148123994T>GCA3496058SPINK5c.2666+34T>G (n.2666+34T>G)
c.2609+34T>G (n.2609+34T>G)
c.2582+34T>G (n.2582+34T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123994T=CA1589899802SPINK5c.2666+34T= (n.2666+34T=)
c.2609+34T= (n.2609+34T=)
c.2582+34T= (n.2582+34T=)
5g.148123995T>ACA1589899804SPINK5c.2666+35T>A (n.2666+35T>A)
c.2609+35T>A (n.2609+35T>A)
c.2582+35T>A (n.2582+35T>A)
 dbSNP
5g.148123995T=CA1589899803SPINK5c.2666+35T= (n.2666+35T=)
c.2609+35T= (n.2609+35T=)
c.2582+35T= (n.2582+35T=)
5g.148123996G>ACA805387562SPINK5c.2666+36G>A (n.2666+36G>A)
c.2609+36G>A (n.2609+36G>A)
c.2582+36G>A (n.2582+36G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.148123996G=CA1589899805SPINK5c.2666+36G= (n.2666+36G=)
c.2609+36G= (n.2609+36G=)
c.2582+36G= (n.2582+36G=)
5g.148123996G>TCA2675858032SPINK5c.2666+36G>T (n.2666+36G>T)
c.2609+36G>T (n.2609+36G>T)
c.2582+36G>T (n.2582+36G>T)
 gnomAD v4
5g.148123997T>CCA2675858033SPINK5c.2666+37T>C (n.2666+37T>C)
c.2609+37T>C (n.2609+37T>C)
c.2582+37T>C (n.2582+37T>C)
 gnomAD v4
5g.148123997T>GCA563525501SPINK5c.2666+37T>G (n.2666+37T>G)
c.2609+37T>G (n.2609+37T>G)
c.2582+37T>G (n.2582+37T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123997T=CA1589899806SPINK5c.2666+37T= (n.2666+37T=)
c.2609+37T= (n.2609+37T=)
c.2582+37T= (n.2582+37T=)
5g.148123998G>ACA1589899808SPINK5c.2666+38G>A (n.2666+38G>A)
c.2609+38G>A (n.2609+38G>A)
c.2582+38G>A (n.2582+38G>A)
 dbSNP gnomAD v4
5g.148123998G=CA1589899807SPINK5c.2666+38G= (n.2666+38G=)
c.2609+38G= (n.2609+38G=)
c.2582+38G= (n.2582+38G=)
5g.148123998G>TCA2675858034SPINK5c.2666+38G>T (n.2666+38G>T)
c.2609+38G>T (n.2609+38G>T)
c.2582+38G>T (n.2582+38G>T)
 gnomAD v4
5g.148124002_148124003delinsGTCA1589899809SPINK5c.2666+42_2666+43delinsGT (n.2666+42_2666+43delinsGT)
c.2609+42_2609+43delinsGT (n.2609+42_2609+43delinsGT)
c.2582+42_2582+43delinsGT (n.2582+42_2582+43delinsGT)
5g.148124003T>ACA563525503SPINK5c.2666+43T>A (n.2666+43T>A)
c.2609+43T>A (n.2609+43T>A)
c.2582+43T>A (n.2582+43T>A)
 dbSNP gnomAD v2 gnomAD v4
5g.148124003T=CA1589899810SPINK5c.2666+43T= (n.2666+43T=)
c.2609+43T= (n.2609+43T=)
c.2582+43T= (n.2582+43T=)
5g.148124005delCA563525502SPINK5c.2666+45del (n.2666+45del)
c.2609+45del (n.2609+45del)
c.2582+45del (n.2582+45del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148124004T>GCA2675858036SPINK5c.2666+44T>G (n.2666+44T>G)
c.2609+44T>G (n.2609+44T>G)
c.2582+44T>G (n.2582+44T>G)
 gnomAD v4
5g.148124006G=CA1589899811SPINK5c.2666+46G= (n.2666+46G=)
c.2609+46G= (n.2609+46G=)
c.2582+46G= (n.2582+46G=)
5g.148124006G>TCA1589899812SPINK5c.2666+46G>T (n.2666+46G>T)
c.2609+46G>T (n.2609+46G>T)
c.2582+46G>T (n.2582+46G>T)
 dbSNP gnomAD v4
5g.148124007C=CA1589899813SPINK5c.2666+47C= (n.2666+47C=)
c.2609+47C= (n.2609+47C=)
c.2582+47C= (n.2582+47C=)
5g.148124007C>TCA1589899814SPINK5c.2666+47C>T (n.2666+47C>T)
c.2609+47C>T (n.2609+47C>T)
c.2582+47C>T (n.2582+47C>T)
 dbSNP gnomAD v4
5g.148124008T>CCA2675858039SPINK5c.2666+48T>C (n.2666+48T>C)
c.2609+48T>C (n.2609+48T>C)
c.2582+48T>C (n.2582+48T>C)
 gnomAD v4
5g.148124009A=CA1589899815SPINK5c.2666+49A= (n.2666+49A=)
c.2609+49A= (n.2609+49A=)
c.2582+49A= (n.2582+49A=)
5g.148124009A>GCA563525505SPINK5c.2666+49A>G (n.2666+49A>G)
c.2609+49A>G (n.2609+49A>G)
c.2582+49A>G (n.2582+49A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.148124010G>ACA2675858041SPINK5c.2666+50G>A (n.2666+50G>A)
c.2609+50G>A (n.2609+50G>A)
c.2582+50G>A (n.2582+50G>A)
 gnomAD v4
5g.148124010G=CA1589899816SPINK5c.2666+50G= (n.2666+50G=)
c.2609+50G= (n.2609+50G=)
c.2582+50G= (n.2582+50G=)
5g.148124010G>TCA563525507SPINK5c.2666+50G>T (n.2666+50G>T)
c.2609+50G>T (n.2609+50G>T)
c.2582+50G>T (n.2582+50G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148124015T>CCA805387569SPINK5c.2666+55T>C (n.2666+55T>C)
c.2609+55T>C (n.2609+55T>C)
c.2582+55T>C (n.2582+55T>C)
 dbSNP gnomAD v3 gnomAD v4
5g.148124015T=CA1589899817SPINK5c.2666+55T= (n.2666+55T=)
c.2609+55T= (n.2609+55T=)
c.2582+55T= (n.2582+55T=)

Number of alleles fetched