Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148123777_148123824dupCA2675857878SPINK5c.2539-56_2539-9dup (n.2539-56_2539-9dup)
c.2482-56_2482-9dup (n.2482-56_2482-9dup)
c.2455-56_2455-9dup (n.2455-56_2455-9dup)
 gnomAD v4
5g.148123816dupCA2675857890SPINK5c.2539-17dup (n.2539-17dup)
c.2482-17dup (n.2482-17dup)
c.2455-17dup (n.2455-17dup)
 gnomAD v4
5g.148123816T>CCA2675857892SPINK5c.2539-17T>C (n.2539-17T>C)
c.2482-17T>C (n.2482-17T>C)
c.2455-17T>C (n.2455-17T>C)
 gnomAD v4
5g.148123816T>GCA2675857891SPINK5c.2539-17T>G (n.2539-17T>G)
c.2482-17T>G (n.2482-17T>G)
c.2455-17T>G (n.2455-17T>G)
 gnomAD v4
5g.148123818T>CCA2578443681SPINK5c.2539-15T>C (n.2539-15T>C)
c.2482-15T>C (n.2482-15T>C)
c.2455-15T>C (n.2455-15T>C)
5g.148123819G>ACA3496031SPINK5c.2539-14G>A (n.2539-14G>A)
c.2482-14G>A (n.2482-14G>A)
c.2455-14G>A (n.2455-14G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123819G=CA1589899717SPINK5c.2539-14G= (n.2539-14G=)
c.2482-14G= (n.2482-14G=)
c.2455-14G= (n.2455-14G=)
5g.148123821T>ACA128939715SPINK5c.2539-12T>A (n.2539-12T>A)
c.2482-12T>A (n.2482-12T>A)
c.2455-12T>A (n.2455-12T>A)
 dbSNP
5g.148123821T>CCA563525458SPINK5c.2539-12T>C (n.2539-12T>C)
c.2482-12T>C (n.2482-12T>C)
c.2455-12T>C (n.2455-12T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.148123821T=CA1589899718SPINK5c.2539-12T= (n.2539-12T=)
c.2482-12T= (n.2482-12T=)
c.2455-12T= (n.2455-12T=)
5g.148123822A=CA1589899719SPINK5c.2539-11A= (n.2539-11A=)
c.2482-11A= (n.2482-11A=)
c.2455-11A= (n.2455-11A=)
5g.148123822A>GCA3496032SPINK5c.2539-11A>G (n.2539-11A>G)
c.2482-11A>G (n.2482-11A>G)
c.2455-11A>G (n.2455-11A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123824T>ACA2675857893SPINK5c.2539-9T>A (n.2539-9T>A)
c.2482-9T>A (n.2482-9T>A)
c.2455-9T>A (n.2455-9T>A)
 gnomAD v4
5g.148123824T>CCA563525459SPINK5c.2539-9T>C (n.2539-9T>C)
c.2482-9T>C (n.2482-9T>C)
c.2455-9T>C (n.2455-9T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123824T=CA1589899720SPINK5c.2539-9T= (n.2539-9T=)
c.2482-9T= (n.2482-9T=)
c.2455-9T= (n.2455-9T=)
5g.148123825G>ACA2578443682SPINK5c.2539-8G>A (n.2539-8G>A)
c.2482-8G>A (n.2482-8G>A)
c.2455-8G>A (n.2455-8G>A)
 gnomAD v4
5g.148123825G>CCA3496033SPINK5c.2539-8G>C (n.2539-8G>C)
c.2482-8G>C (n.2482-8G>C)
c.2455-8G>C (n.2455-8G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123825G=CA1589899721SPINK5c.2539-8G= (n.2539-8G=)
c.2482-8G= (n.2482-8G=)
c.2455-8G= (n.2455-8G=)
5g.148123828G>TCA2675857894SPINK5c.2539-5G>T (n.2539-5G>T)
c.2482-5G>T (n.2482-5G>T)
c.2455-5G>T (n.2455-5G>T)
 gnomAD v4
5g.148123829delCA2675857895SPINK5c.2539-4del (n.2539-4del)
c.2482-4del (n.2482-4del)
c.2455-4del (n.2455-4del)
 gnomAD v4
5g.148123830_148123833delCA2578443683SPINK5c.2539-3_2539del
c.2482-3_2482del
c.2455-3_2455del
5g.148123829G>ACA2499217714SPINK5c.2539-4G>A (n.2539-4G>A)
c.2482-4G>A (n.2482-4G>A)
c.2455-4G>A (n.2455-4G>A)
 ClinVar dbSNP
5g.148123830T>CCA446937315SPINK5c.2539-3T>C (n.2539-3T>C)
c.2482-3T>C (n.2482-3T>C)
c.2455-3T>C (n.2455-3T>C)
 COSMIC
5g.148123831A>CCA361647375SPINK5c.2539-2A>C (n.2539-2A>C)
c.2482-2A>C (n.2482-2A>C)
c.2455-2A>C (n.2455-2A>C)
5g.148123831A>GCA361647378SPINK5c.2539-2A>G (n.2539-2A>G)
c.2482-2A>G (n.2482-2A>G)
c.2455-2A>G (n.2455-2A>G)
 gnomAD v4
5g.148123831A>TCA361647384SPINK5c.2539-2A>T (n.2539-2A>T)
c.2482-2A>T (n.2482-2A>T)
c.2455-2A>T (n.2455-2A>T)
5g.148123832G>ACA361647391SPINK5c.2539-1G>A (n.2539-1G>A)
c.2482-1G>A (n.2482-1G>A)
c.2455-1G>A (n.2455-1G>A)
 gnomAD v4
5g.148123832G>CCA361647389SPINK5c.2539-1G>C (n.2539-1G>C)
c.2482-1G>C (n.2482-1G>C)
c.2455-1G>C (n.2455-1G>C)
5g.148123832G>TCA361647387SPINK5c.2539-1G>T (n.2539-1G>T)
c.2482-1G>T (n.2482-1G>T)
c.2455-1G>T (n.2455-1G>T)
5g.148123833delCA2573052449SPINK5c.2539del
c.2482del
c.2455del
 dbSNP
5g.148123833G>ACA361647393SPINK5c.2539G>A (p.Asp847Asn)
c.2482G>A (p.Asp828Asn)
c.2455G>A (p.Asp819Asn)
5g.148123833G>CCA361647396SPINK5c.2539G>C (p.Asp847His)
c.2482G>C (p.Asp828His)
c.2455G>C (p.Asp819His)
5g.148123833G>TCA361647407SPINK5c.2539G>T (p.Asp847Tyr)
c.2482G>T (p.Asp828Tyr)
c.2455G>T (p.Asp819Tyr)
5g.148123834A=CA1589899722SPINK5c.2540A= (p.Asp847=)
c.2483A= (p.Asp828=)
c.2456A= (p.Asp819=)
5g.148123834A>CCA361647409SPINK5c.2540A>C (p.Asp847Ala)
c.2483A>C (p.Asp828Ala)
c.2456A>C (p.Asp819Ala)
5g.148123834A>GCA361647410SPINK5c.2540A>G (p.Asp847Gly)
c.2483A>G (p.Asp828Gly)
c.2456A>G (p.Asp819Gly)
5g.148123834A>TCA3496034SPINK5c.2540A>T (p.Asp847Val)
c.2483A>T (p.Asp828Val)
c.2456A>T (p.Asp819Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123835T>ACA361647411SPINK5c.2541T>A (p.Asp847Glu)
c.2484T>A (p.Asp828Glu)
c.2457T>A (p.Asp819Glu)
 dbSNP gnomAD v3 gnomAD v4
5g.148123835T>CCA446937321SPINK5c.2541T>C (p.Asp847=)
c.2484T>C (p.Asp828=)
c.2457T>C (p.Asp819=)
 dbSNP gnomAD v2
5g.148123835T>GCA361647413SPINK5c.2541T>G (p.Asp847Glu)
c.2484T>G (p.Asp828Glu)
c.2457T>G (p.Asp819Glu)
5g.148123835T=CA1589899723SPINK5c.2541T= (p.Asp847=)
c.2484T= (p.Asp828=)
c.2457T= (p.Asp819=)
5g.148123836C>ACA361647415SPINK5c.2542C>A (p.Leu848Met)
c.2485C>A (p.Leu829Met)
c.2458C>A (p.Leu820Met)
 dbSNP gnomAD v2 gnomAD v4
5g.148123836C=CA1589899724SPINK5c.2542C= (p.Leu848=)
c.2485C= (p.Leu829=)
c.2458C= (p.Leu820=)
5g.148123836C>GCA361647417SPINK5c.2542C>G (p.Leu848Val)
c.2485C>G (p.Leu829Val)
c.2458C>G (p.Leu820Val)
5g.148123836C>TCA446937323SPINK5c.2542C>T (p.Leu848=)
c.2485C>T (p.Leu829=)
c.2458C>T (p.Leu820=)
5g.148123837T>ACA361647421SPINK5c.2543T>A (p.Leu848Gln)
c.2486T>A (p.Leu829Gln)
c.2459T>A (p.Leu820Gln)
5g.148123837T>CCA361647423SPINK5c.2543T>C (p.Leu848Pro)
c.2486T>C (p.Leu829Pro)
c.2459T>C (p.Leu820Pro)
5g.148123837T>GCA361647426SPINK5c.2543T>G (p.Leu848Arg)
c.2486T>G (p.Leu829Arg)
c.2459T>G (p.Leu820Arg)
5g.148123838G>ACA446937327SPINK5c.2544G>A (p.Leu848=)
c.2487G>A (p.Leu829=)
c.2460G>A (p.Leu820=)
5g.148123838G>CCA446937326SPINK5c.2544G>C (p.Leu848=)
c.2487G>C (p.Leu829=)
c.2460G>C (p.Leu820=)
5g.148123838G>TCA446937325SPINK5c.2544G>T (p.Leu848=)
c.2487G>T (p.Leu829=)
c.2460G>T (p.Leu820=)
5g.148123839T>ACA361647429SPINK5c.2545T>A (p.Cys849Ser)
c.2488T>A (p.Cys830Ser)
c.2461T>A (p.Cys821Ser)
5g.148123839T>CCA361647432SPINK5c.2545T>C (p.Cys849Arg)
c.2488T>C (p.Cys830Arg)
c.2461T>C (p.Cys821Arg)
5g.148123839T>GCA361647431SPINK5c.2545T>G (p.Cys849Gly)
c.2488T>G (p.Cys830Gly)
c.2461T>G (p.Cys821Gly)
5g.148123840G>ACA361647434SPINK5c.2546G>A (p.Cys849Tyr)
c.2489G>A (p.Cys830Tyr)
c.2462G>A (p.Cys821Tyr)
 dbSNP gnomAD v4
5g.148123840G>CCA361647435SPINK5c.2546G>C (p.Cys849Ser)
c.2489G>C (p.Cys830Ser)
c.2462G>C (p.Cys821Ser)
5g.148123840G>TCA361647436SPINK5c.2546G>T (p.Cys849Phe)
c.2489G>T (p.Cys830Phe)
c.2462G>T (p.Cys821Phe)
5g.148123841T>ACA361647438SPINK5c.2547T>A (p.Cys849Ter)
c.2490T>A (p.Cys830Ter)
c.2463T>A (p.Cys821Ter)
5g.148123841T>CCA446937330SPINK5c.2547T>C (p.Cys849=)
c.2490T>C (p.Cys830=)
c.2463T>C (p.Cys821=)
5g.148123841T>GCA361647440SPINK5c.2547T>G (p.Cys849Trp)
c.2490T>G (p.Cys830Trp)
c.2463T>G (p.Cys821Trp)
5g.148123842C>ACA361647443SPINK5c.2548C>A (p.Arg850Ser)
c.2491C>A (p.Arg831Ser)
c.2464C>A (p.Arg822Ser)
5g.148123842C=CA1589899725SPINK5c.2548C= (p.Arg850=)
c.2491C= (p.Arg831=)
c.2464C= (p.Arg822=)
5g.148123842C>GCA361647445SPINK5c.2548C>G (p.Arg850Gly)
c.2491C>G (p.Arg831Gly)
c.2464C>G (p.Arg822Gly)
5g.148123842C>TCA3496035SPINK5c.2548C>T (p.Arg850Cys)
c.2491C>T (p.Arg831Cys)
c.2464C>T (p.Arg822Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.148123843G>ACA3496036SPINK5c.2549G>A (p.Arg850His)
c.2492G>A (p.Arg831His)
c.2465G>A (p.Arg822His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123843G>CCA361647451SPINK5c.2549G>C (p.Arg850Pro)
c.2492G>C (p.Arg831Pro)
c.2465G>C (p.Arg822Pro)
 gnomAD v4
5g.148123843G=CA1589899726SPINK5c.2549G= (p.Arg850=)
c.2492G= (p.Arg831=)
c.2465G= (p.Arg822=)
5g.148123843G>TCA361647457SPINK5c.2549G>T (p.Arg850Leu)
c.2492G>T (p.Arg831Leu)
c.2465G>T (p.Arg822Leu)
 gnomAD v4
5g.148123844T>ACA446937335SPINK5c.2550T>A (p.Arg850=)
c.2493T>A (p.Arg831=)
c.2466T>A (p.Arg822=)
5g.148123844T>CCA446937337SPINK5c.2550T>C (p.Arg850=)
c.2493T>C (p.Arg831=)
c.2466T>C (p.Arg822=)
5g.148123844T>GCA446937338SPINK5c.2550T>G (p.Arg850=)
c.2493T>G (p.Arg831=)
c.2466T>G (p.Arg822=)
5g.148123845G>ACA128939766SPINK5c.2551G>A (p.Glu851Lys)
c.2494G>A (p.Glu832Lys)
c.2467G>A (p.Glu823Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.148123845G>CCA361647461SPINK5c.2551G>C (p.Glu851Gln)
c.2494G>C (p.Glu832Gln)
c.2467G>C (p.Glu823Gln)
5g.148123845G=CA1589899727SPINK5c.2551G= (p.Glu851=)
c.2494G= (p.Glu832=)
c.2467G= (p.Glu823=)
5g.148123845G>TCA361647459SPINK5c.2551G>T (p.Glu851Ter)
c.2494G>T (p.Glu832Ter)
c.2467G>T (p.Glu823Ter)
5g.148123846A>CCA361647464SPINK5c.2552A>C (p.Glu851Ala)
c.2495A>C (p.Glu832Ala)
c.2468A>C (p.Glu823Ala)
5g.148123846A>GCA361647462SPINK5c.2552A>G (p.Glu851Gly)
c.2495A>G (p.Glu832Gly)
c.2468A>G (p.Glu823Gly)
5g.148123846A>TCA361647463SPINK5c.2552A>T (p.Glu851Val)
c.2495A>T (p.Glu832Val)
c.2468A>T (p.Glu823Val)
5g.148123847A>CCA361647467SPINK5c.2553A>C (p.Glu851Asp)
c.2496A>C (p.Glu832Asp)
c.2469A>C (p.Glu823Asp)
5g.148123847A>GCA446937341SPINK5c.2553A>G (p.Glu851=)
c.2496A>G (p.Glu832=)
c.2469A>G (p.Glu823=)
5g.148123847A>TCA361647469SPINK5c.2553A>T (p.Glu851Asp)
c.2496A>T (p.Glu832Asp)
c.2469A>T (p.Glu823Asp)
5g.148123847_148123848delinsATCA1589899728SPINK5c.2553_2554delinsAT (p.Glu851=)
c.2496_2497delinsAT (p.Glu832=)
c.2469_2470delinsAT (p.Glu823=)
5g.148123848T>ACA361647473SPINK5c.2554T>A (p.Phe852Ile)
c.2497T>A (p.Phe833Ile)
c.2470T>A (p.Phe824Ile)
5g.148123848T>CCA3496037SPINK5c.2554T>C (p.Phe852Leu)
c.2497T>C (p.Phe833Leu)
c.2470T>C (p.Phe824Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123848T>GCA361647476SPINK5c.2554T>G (p.Phe852Val)
c.2497T>G (p.Phe833Val)
c.2470T>G (p.Phe824Val)
5g.148123848T=CA1589899730SPINK5c.2554T= (p.Phe852=)
c.2497T= (p.Phe833=)
c.2470T= (p.Phe824=)
5g.148123850delCA1589899729SPINK5c.2556del (p.Arg853GlufsTer?)
c.2499del (p.Arg834GlufsTer?)
c.2472del (p.Arg825GlufsTer?)
 dbSNP
5g.148123849T>ACA361647481SPINK5c.2555T>A (p.Phe852Tyr)
c.2498T>A (p.Phe833Tyr)
c.2471T>A (p.Phe824Tyr)
5g.148123849T>CCA361647485SPINK5c.2555T>C (p.Phe852Ser)
c.2498T>C (p.Phe833Ser)
c.2471T>C (p.Phe824Ser)
5g.148123849T>GCA361647483SPINK5c.2555T>G (p.Phe852Cys)
c.2498T>G (p.Phe833Cys)
c.2471T>G (p.Phe824Cys)
5g.148123850T>ACA361647488SPINK5c.2556T>A (p.Phe852Leu)
c.2499T>A (p.Phe833Leu)
c.2472T>A (p.Phe824Leu)
5g.148123850T>CCA446937342SPINK5c.2556T>C (p.Phe852=)
c.2499T>C (p.Phe833=)
c.2472T>C (p.Phe824=)
5g.148123850T>GCA361647489SPINK5c.2556T>G (p.Phe852Leu)
c.2499T>G (p.Phe833Leu)
c.2472T>G (p.Phe824Leu)
5g.148123851C>ACA446937343SPINK5c.2557C>A (p.Arg853=)
c.2500C>A (p.Arg834=)
c.2473C>A (p.Arg825=)
5g.148123851C=CA1589899731SPINK5c.2557C= (p.Arg853=)
c.2500C= (p.Arg834=)
c.2473C= (p.Arg825=)
5g.148123851C>GCA361647490SPINK5c.2557C>G (p.Arg853Gly)
c.2500C>G (p.Arg834Gly)
c.2473C>G (p.Arg825Gly)
5g.148123851C>TCA3496038SPINK5c.2557C>T (p.Arg853Ter)
c.2500C>T (p.Arg834Ter)
c.2473C>T (p.Arg825Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.148123852G>ACA3496039SPINK5c.2558G>A (p.Arg853Gln)
c.2501G>A (p.Arg834Gln)
c.2474G>A (p.Arg825Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123852G>CCA361647496SPINK5c.2558G>C (p.Arg853Pro)
c.2501G>C (p.Arg834Pro)
c.2474G>C (p.Arg825Pro)
5g.148123852G=CA1589899732SPINK5c.2558G= (p.Arg853=)
c.2501G= (p.Arg834=)
c.2474G= (p.Arg825=)
5g.148123852G>TCA361647495SPINK5c.2558G>T (p.Arg853Leu)
c.2501G>T (p.Arg834Leu)
c.2474G>T (p.Arg825Leu)
5g.148123853A>CCA446937344SPINK5c.2559A>C (p.Arg853=)
c.2502A>C (p.Arg834=)
c.2475A>C (p.Arg825=)
5g.148123853A>GCA446937345SPINK5c.2559A>G (p.Arg853=)
c.2502A>G (p.Arg834=)
c.2475A>G (p.Arg825=)
5g.148123853A>TCA446937346SPINK5c.2559A>T (p.Arg853=)
c.2502A>T (p.Arg834=)
c.2475A>T (p.Arg825=)
5g.148123854A=CA1589899733SPINK5c.2560A= (p.Ser854=)
c.2503A= (p.Ser835=)
c.2476A= (p.Ser826=)
5g.148123854A>CCA361647504SPINK5c.2560A>C (p.Ser854Arg)
c.2503A>C (p.Ser835Arg)
c.2476A>C (p.Ser826Arg)
5g.148123854A>GCA361647507SPINK5c.2560A>G (p.Ser854Gly)
c.2503A>G (p.Ser835Gly)
c.2476A>G (p.Ser826Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123854A>TCA361647510SPINK5c.2560A>T (p.Ser854Cys)
c.2503A>T (p.Ser835Cys)
c.2476A>T (p.Ser826Cys)
5g.148123855G>ACA361647512SPINK5c.2561G>A (p.Ser854Asn)
c.2504G>A (p.Ser835Asn)
c.2477G>A (p.Ser826Asn)
 gnomAD v4
5g.148123855G>CCA361647519SPINK5c.2561G>C (p.Ser854Thr)
c.2504G>C (p.Ser835Thr)
c.2477G>C (p.Ser826Thr)
5g.148123855G>TCA361647522SPINK5c.2561G>T (p.Ser854Ile)
c.2504G>T (p.Ser835Ile)
c.2477G>T (p.Ser826Ile)
5g.148123856C>ACA361647531SPINK5c.2562C>A (p.Ser854Arg)
c.2505C>A (p.Ser835Arg)
c.2478C>A (p.Ser826Arg)
5g.148123856C>GCA361647533SPINK5c.2562C>G (p.Ser854Arg)
c.2505C>G (p.Ser835Arg)
c.2478C>G (p.Ser826Arg)
5g.148123856C>TCA446937347SPINK5c.2562C>T (p.Ser854=)
c.2505C>T (p.Ser835=)
c.2478C>T (p.Ser826=)
 ClinVar dbSNP
5g.148123857A>CCA361647536SPINK5c.2563A>C (p.Met855Leu)
c.2506A>C (p.Met836Leu)
c.2479A>C (p.Met827Leu)
5g.148123857A>GCA361647540SPINK5c.2563A>G (p.Met855Val)
c.2506A>G (p.Met836Val)
c.2479A>G (p.Met827Val)
 gnomAD v4
5g.148123857A>TCA361647543SPINK5c.2563A>T (p.Met855Leu)
c.2506A>T (p.Met836Leu)
c.2479A>T (p.Met827Leu)
 gnomAD v4
5g.148123858T>ACA361647556SPINK5c.2564T>A (p.Met855Lys)
c.2507T>A (p.Met836Lys)
c.2480T>A (p.Met827Lys)
5g.148123858T>CCA3496040SPINK5c.2564T>C (p.Met855Thr)
c.2507T>C (p.Met836Thr)
c.2480T>C (p.Met827Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123858T>GCA361647553SPINK5c.2564T>G (p.Met855Arg)
c.2507T>G (p.Met836Arg)
c.2480T>G (p.Met827Arg)
5g.148123858T=CA1589899734SPINK5c.2564T= (p.Met855=)
c.2507T= (p.Met836=)
c.2480T= (p.Met827=)
5g.148123859G>ACA361647559SPINK5c.2565G>A (p.Met855Ile)
c.2508G>A (p.Met836Ile)
c.2481G>A (p.Met827Ile)
5g.148123859G>CCA361647561SPINK5c.2565G>C (p.Met855Ile)
c.2508G>C (p.Met836Ile)
c.2481G>C (p.Met827Ile)
5g.148123859G>TCA361647566SPINK5c.2565G>T (p.Met855Ile)
c.2508G>T (p.Met836Ile)
c.2481G>T (p.Met827Ile)
5g.148123860C>ACA3496041SPINK5c.2566C>A (p.Gln856Lys)
c.2509C>A (p.Gln837Lys)
c.2482C>A (p.Gln828Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123860C=CA1589899735SPINK5c.2566C= (p.Gln856=)
c.2509C= (p.Gln837=)
c.2482C= (p.Gln828=)
5g.148123860C>GCA361647576SPINK5c.2566C>G (p.Gln856Glu)
c.2509C>G (p.Gln837Glu)
c.2482C>G (p.Gln828Glu)
5g.148123860C>TCA361647581SPINK5c.2566C>T (p.Gln856Ter)
c.2509C>T (p.Gln837Ter)
c.2482C>T (p.Gln828Ter)
5g.148123861A>CCA361647584SPINK5c.2567A>C (p.Gln856Pro)
c.2510A>C (p.Gln837Pro)
c.2483A>C (p.Gln828Pro)
 dbSNP
5g.148123861A>GCA361647587SPINK5c.2567A>G (p.Gln856Arg)
c.2510A>G (p.Gln837Arg)
c.2483A>G (p.Gln828Arg)
 gnomAD v4
5g.148123861A>TCA361647590SPINK5c.2567A>T (p.Gln856Leu)
c.2510A>T (p.Gln837Leu)
c.2483A>T (p.Gln828Leu)
5g.148123862G>ACA446937348SPINK5c.2568G>A (p.Gln856=)
c.2511G>A (p.Gln837=)
c.2484G>A (p.Gln828=)
 dbSNP
5g.148123862G>CCA361647592SPINK5c.2568G>C (p.Gln856His)
c.2511G>C (p.Gln837His)
c.2484G>C (p.Gln828His)
5g.148123862G=CA1589899736SPINK5c.2568G= (p.Gln856=)
c.2511G= (p.Gln837=)
c.2484G= (p.Gln828=)
5g.148123862G>TCA361647594SPINK5c.2568G>T (p.Gln856His)
c.2511G>T (p.Gln837His)
c.2484G>T (p.Gln828His)
5g.148123863A=CA1589899737SPINK5c.2569A= (p.Arg857=)
c.2512A= (p.Arg838=)
c.2485A= (p.Arg829=)
5g.148123863A>CCA446937349SPINK5c.2569A>C (p.Arg857=)
c.2512A>C (p.Arg838=)
c.2485A>C (p.Arg829=)
5g.148123863A>GCA361647597SPINK5c.2569A>G (p.Arg857Gly)
c.2512A>G (p.Arg838Gly)
c.2485A>G (p.Arg829Gly)
 dbSNP
5g.148123863A>TCA361647599SPINK5c.2569A>T (p.Arg857Ter)
c.2512A>T (p.Arg838Ter)
c.2485A>T (p.Arg829Ter)
5g.148123864G>ACA361647606SPINK5c.2570G>A (p.Arg857Lys)
c.2513G>A (p.Arg838Lys)
c.2486G>A (p.Arg829Lys)
5g.148123864G>CCA361647602SPINK5c.2570G>C (p.Arg857Thr)
c.2513G>C (p.Arg838Thr)
c.2486G>C (p.Arg829Thr)
5g.148123864G>TCA361647604SPINK5c.2570G>T (p.Arg857Ile)
c.2513G>T (p.Arg838Ile)
c.2486G>T (p.Arg829Ile)
 gnomAD v4
5g.148123865A=CA1589899738SPINK5c.2571A= (p.Arg857=)
c.2514A= (p.Arg838=)
c.2487A= (p.Arg829=)
5g.148123865A>CCA361647609SPINK5c.2571A>C (p.Arg857Ser)
c.2514A>C (p.Arg838Ser)
c.2487A>C (p.Arg829Ser)
5g.148123865A>GCA446937350SPINK5c.2571A>G (p.Arg857=)
c.2514A>G (p.Arg838=)
c.2487A>G (p.Arg829=)
5g.148123865A>TCA361647610SPINK5c.2571A>T (p.Arg857Ser)
c.2514A>T (p.Arg838Ser)
c.2487A>T (p.Arg829Ser)
 dbSNP
5g.148123866A>CCA361647611SPINK5c.2572A>C (p.Asn858His)
c.2515A>C (p.Asn839His)
c.2488A>C (p.Asn830His)
5g.148123866A>GCA361647612SPINK5c.2572A>G (p.Asn858Asp)
c.2515A>G (p.Asn839Asp)
c.2488A>G (p.Asn830Asp)
5g.148123866A>TCA361647614SPINK5c.2572A>T (p.Asn858Tyr)
c.2515A>T (p.Asn839Tyr)
c.2488A>T (p.Asn830Tyr)
5g.148123867A>CCA361647616SPINK5c.2573A>C (p.Asn858Thr)
c.2516A>C (p.Asn839Thr)
c.2489A>C (p.Asn830Thr)
5g.148123867A>GCA361647618SPINK5c.2573A>G (p.Asn858Ser)
c.2516A>G (p.Asn839Ser)
c.2489A>G (p.Asn830Ser)
5g.148123867A>TCA361647620SPINK5c.2573A>T (p.Asn858Ile)
c.2516A>T (p.Asn839Ile)
c.2489A>T (p.Asn830Ile)
5g.148123868T>ACA361647623SPINK5c.2574T>A (p.Asn858Lys)
c.2517T>A (p.Asn839Lys)
c.2490T>A (p.Asn830Lys)
5g.148123868T>CCA446937354SPINK5c.2574T>C (p.Asn858=)
c.2517T>C (p.Asn839=)
c.2490T>C (p.Asn830=)
 ClinVar dbSNP
5g.148123868T>GCA361647624SPINK5c.2574T>G (p.Asn858Lys)
c.2517T>G (p.Asn839Lys)
c.2490T>G (p.Asn830Lys)
5g.148123869G>ACA361647625SPINK5c.2575G>A (p.Gly859Arg)
c.2518G>A (p.Gly840Arg)
c.2491G>A (p.Gly831Arg)
5g.148123869G>CCA361647626SPINK5c.2575G>C (p.Gly859Arg)
c.2518G>C (p.Gly840Arg)
c.2491G>C (p.Gly831Arg)
5g.148123869G>TCA361647627SPINK5c.2575G>T (p.Gly859Ter)
c.2518G>T (p.Gly840Ter)
c.2491G>T (p.Gly831Ter)
 gnomAD v4
5g.148123870G>ACA361647630SPINK5c.2576G>A (p.Gly859Glu)
c.2519G>A (p.Gly840Glu)
c.2492G>A (p.Gly831Glu)
5g.148123870G>CCA361647633SPINK5c.2576G>C (p.Gly859Ala)
c.2519G>C (p.Gly840Ala)
c.2492G>C (p.Gly831Ala)
5g.148123870G>TCA361647629SPINK5c.2576G>T (p.Gly859Val)
c.2519G>T (p.Gly840Val)
c.2492G>T (p.Gly831Val)
5g.148123870_148123871delinsGACA1589899739SPINK5c.2576_2577delinsGA (p.Gly859=)
c.2519_2520delinsGA (p.Gly840=)
c.2492_2493delinsGA (p.Gly831=)
5g.148123871A=CA1589899740SPINK5c.2577A= (p.Gly859=)
c.2520A= (p.Gly840=)
c.2493A= (p.Gly831=)
5g.148123871A>CCA446937359SPINK5c.2577A>C (p.Gly859=)
c.2520A>C (p.Gly840=)
c.2493A>C (p.Gly831=)
5g.148123871A>GCA3496042SPINK5c.2577A>G (p.Gly859=)
c.2520A>G (p.Gly840=)
c.2493A>G (p.Gly831=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123871A>TCA446937362SPINK5c.2577A>T (p.Gly859=)
c.2520A>T (p.Gly840=)
c.2493A>T (p.Gly831=)
5g.148123873delCA805387314SPINK5c.2579del (p.Lys860SerfsTer?)
c.2522del (p.Lys841SerfsTer?)
c.2495del (p.Lys832SerfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148123872A>CCA361647642SPINK5c.2578A>C (p.Lys860Gln)
c.2521A>C (p.Lys841Gln)
c.2494A>C (p.Lys832Gln)
5g.148123872A>GCA361647645SPINK5c.2578A>G (p.Lys860Glu)
c.2521A>G (p.Lys841Glu)
c.2494A>G (p.Lys832Glu)
5g.148123872A>TCA361647644SPINK5c.2578A>T (p.Lys860Ter)
c.2521A>T (p.Lys841Ter)
c.2494A>T (p.Lys832Ter)
5g.148123873A>CCA361647649SPINK5c.2579A>C (p.Lys860Thr)
c.2522A>C (p.Lys841Thr)
c.2495A>C (p.Lys832Thr)
5g.148123873A>GCA361647655SPINK5c.2579A>G (p.Lys860Arg)
c.2522A>G (p.Lys841Arg)
c.2495A>G (p.Lys832Arg)
5g.148123873A>TCA361647658SPINK5c.2579A>T (p.Lys860Met)
c.2522A>T (p.Lys841Met)
c.2495A>T (p.Lys832Met)
5g.148123874G>ACA128939813SPINK5c.2580G>A (p.Lys860=)
c.2523G>A (p.Lys841=)
c.2496G>A (p.Lys832=)
 dbSNP gnomAD v4
5g.148123874G>CCA361647659SPINK5c.2580G>C (p.Lys860Asn)
c.2523G>C (p.Lys841Asn)
c.2496G>C (p.Lys832Asn)
5g.148123874G=CA1589899741SPINK5c.2580G= (p.Lys860=)
c.2523G= (p.Lys841=)
c.2496G= (p.Lys832=)
5g.148123874G>TCA361647660SPINK5c.2580G>T (p.Lys860Asn)
c.2523G>T (p.Lys841Asn)
c.2496G>T (p.Lys832Asn)
5g.148123875C>ACA361647663SPINK5c.2581C>A (p.Leu861Ile)
c.2524C>A (p.Leu842Ile)
c.2497C>A (p.Leu833Ile)
5g.148123875C=CA1589899742SPINK5c.2581C= (p.Leu861=)
c.2524C= (p.Leu842=)
c.2497C= (p.Leu833=)
5g.148123875C>GCA361647666SPINK5c.2581C>G (p.Leu861Val)
c.2524C>G (p.Leu842Val)
c.2497C>G (p.Leu833Val)
5g.148123875C>TCA361647668SPINK5c.2581C>T (p.Leu861Phe)
c.2524C>T (p.Leu842Phe)
c.2497C>T (p.Leu833Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123876T>ACA361647675SPINK5c.2582T>A (p.Leu861His)
c.2525T>A (p.Leu842His)
c.2498T>A (p.Leu833His)
 COSMIC COSMIC
5g.148123876T>CCA361647677SPINK5c.2582T>C (p.Leu861Pro)
c.2525T>C (p.Leu842Pro)
c.2498T>C (p.Leu833Pro)
5g.148123876T>GCA361647679SPINK5c.2582T>G (p.Leu861Arg)
c.2525T>G (p.Leu842Arg)
c.2498T>G (p.Leu833Arg)
5g.148123877T>ACA446937369SPINK5c.2583T>A (p.Leu861=)
c.2526T>A (p.Leu842=)
c.2499T>A (p.Leu833=)
5g.148123877T>CCA446937371SPINK5c.2583T>C (p.Leu861=)
c.2526T>C (p.Leu842=)
c.2499T>C (p.Leu833=)
 gnomAD v4
5g.148123877T>GCA446937372SPINK5c.2583T>G (p.Leu861=)
c.2526T>G (p.Leu842=)
c.2499T>G (p.Leu833=)
5g.148123878A>CCA361647680SPINK5c.2584A>C (p.Ile862Leu)
c.2527A>C (p.Ile843Leu)
c.2500A>C (p.Ile834Leu)
5g.148123878A>GCA361647683SPINK5c.2584A>G (p.Ile862Val)
c.2527A>G (p.Ile843Val)
c.2500A>G (p.Ile834Val)
5g.148123878A>TCA361647682SPINK5c.2584A>T (p.Ile862Phe)
c.2527A>T (p.Ile843Phe)
c.2500A>T (p.Ile834Phe)
5g.148123879T>ACA361647685SPINK5c.2585T>A (p.Ile862Asn)
c.2528T>A (p.Ile843Asn)
c.2501T>A (p.Ile834Asn)
5g.148123879T>CCA128939823SPINK5c.2585T>C (p.Ile862Thr)
c.2528T>C (p.Ile843Thr)
c.2501T>C (p.Ile834Thr)
 dbSNP gnomAD v4
5g.148123879T>GCA361647688SPINK5c.2585T>G (p.Ile862Ser)
c.2528T>G (p.Ile843Ser)
c.2501T>G (p.Ile834Ser)
5g.148123879T=CA1589899743SPINK5c.2585T= (p.Ile862=)
c.2528T= (p.Ile843=)
c.2501T= (p.Ile834=)
5g.148123880C>ACA446937377SPINK5c.2586C>A (p.Ile862=)
c.2529C>A (p.Ile843=)
c.2502C>A (p.Ile834=)
5g.148123880C>GCA361647689SPINK5c.2586C>G (p.Ile862Met)
c.2529C>G (p.Ile843Met)
c.2502C>G (p.Ile834Met)
5g.148123880C>TCA446937376SPINK5c.2586C>T (p.Ile862=)
c.2529C>T (p.Ile843=)
c.2502C>T (p.Ile834=)
5g.148123881T>ACA361647691SPINK5c.2587T>A (p.Cys863Ser)
c.2530T>A (p.Cys844Ser)
c.2503T>A (p.Cys835Ser)
5g.148123881T>CCA361647693SPINK5c.2587T>C (p.Cys863Arg)
c.2530T>C (p.Cys844Arg)
c.2503T>C (p.Cys835Arg)
 dbSNP gnomAD v2 gnomAD v4
5g.148123881T>GCA361647695SPINK5c.2587T>G (p.Cys863Gly)
c.2530T>G (p.Cys844Gly)
c.2503T>G (p.Cys835Gly)
5g.148123881T=CA1589899744SPINK5c.2587T= (p.Cys863=)
c.2530T= (p.Cys844=)
c.2503T= (p.Cys835=)
5g.148123882G>ACA361647699SPINK5c.2588G>A (p.Cys863Tyr)
c.2531G>A (p.Cys844Tyr)
c.2504G>A (p.Cys835Tyr)
5g.148123882G>CCA361647702SPINK5c.2588G>C (p.Cys863Ser)
c.2531G>C (p.Cys844Ser)
c.2504G>C (p.Cys835Ser)
5g.148123882G>TCA361647705SPINK5c.2588G>T (p.Cys863Phe)
c.2531G>T (p.Cys844Phe)
c.2504G>T (p.Cys835Phe)
5g.148123883C>ACA361647712SPINK5c.2589C>A (p.Cys863Ter)
c.2532C>A (p.Cys844Ter)
c.2505C>A (p.Cys835Ter)
5g.148123883C>GCA361647708SPINK5c.2589C>G (p.Cys863Trp)
c.2532C>G (p.Cys844Trp)
c.2505C>G (p.Cys835Trp)
5g.148123883C>TCA446937382SPINK5c.2589C>T (p.Cys863=)
c.2532C>T (p.Cys844=)
c.2505C>T (p.Cys835=)
 gnomAD v4
5g.148123884A=CA1589899745SPINK5c.2590A= (p.Thr864=)
c.2533A= (p.Thr845=)
c.2506A= (p.Thr836=)
5g.148123884A>CCA361647714SPINK5c.2590A>C (p.Thr864Pro)
c.2533A>C (p.Thr845Pro)
c.2506A>C (p.Thr836Pro)
 gnomAD v4
5g.148123884A>GCA128939829SPINK5c.2590A>G (p.Thr864Ala)
c.2533A>G (p.Thr845Ala)
c.2506A>G (p.Thr836Ala)
 dbSNP gnomAD v3 gnomAD v4
5g.148123884A>TCA361647718SPINK5c.2590A>T (p.Thr864Ser)
c.2533A>T (p.Thr845Ser)
c.2506A>T (p.Thr836Ser)
5g.148123885C>ACA361647724SPINK5c.2591C>A (p.Thr864Asn)
c.2534C>A (p.Thr845Asn)
c.2507C>A (p.Thr836Asn)
5g.148123885C=CA1589899746SPINK5c.2591C= (p.Thr864=)
c.2534C= (p.Thr845=)
c.2507C= (p.Thr836=)
5g.148123885C>GCA361647727SPINK5c.2591C>G (p.Thr864Ser)
c.2534C>G (p.Thr845Ser)
c.2507C>G (p.Thr836Ser)
5g.148123885C>TCA361647731SPINK5c.2591C>T (p.Thr864Ile)
c.2534C>T (p.Thr845Ile)
c.2507C>T (p.Thr836Ile)
 dbSNP gnomAD v3 gnomAD v4
5g.148123886C>ACA446937383SPINK5c.2592C>A (p.Thr864=)
c.2535C>A (p.Thr845=)
c.2508C>A (p.Thr836=)
5g.148123886C>GCA446937384SPINK5c.2592C>G (p.Thr864=)
c.2535C>G (p.Thr845=)
c.2508C>G (p.Thr836=)
5g.148123886C>TCA446937386SPINK5c.2592C>T (p.Thr864=)
c.2535C>T (p.Thr845=)
c.2508C>T (p.Thr836=)
 gnomAD v4
5g.148123887A=CA1589899747SPINK5c.2593A= (p.Arg865=)
c.2536A= (p.Arg846=)
c.2509A= (p.Arg837=)
5g.148123887A>CCA446937388SPINK5c.2593A>C (p.Arg865=)
c.2536A>C (p.Arg846=)
c.2509A>C (p.Arg837=)
5g.148123887A>GCA361647734SPINK5c.2593A>G (p.Arg865Gly)
c.2536A>G (p.Arg846Gly)
c.2509A>G (p.Arg837Gly)
 dbSNP
5g.148123887A>TCA361647736SPINK5c.2593A>T (p.Arg865Ter)
c.2536A>T (p.Arg846Ter)
c.2509A>T (p.Arg837Ter)
5g.148123888G>ACA361647739SPINK5c.2594G>A (p.Arg865Lys)
c.2537G>A (p.Arg846Lys)
c.2510G>A (p.Arg837Lys)
 dbSNP
5g.148123888G>CCA361647741SPINK5c.2594G>C (p.Arg865Thr)
c.2537G>C (p.Arg846Thr)
c.2510G>C (p.Arg837Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148123888G=CA1589899748SPINK5c.2594G= (p.Arg865=)
c.2537G= (p.Arg846=)
c.2510G= (p.Arg837=)
5g.148123888G>TCA361647743SPINK5c.2594G>T (p.Arg865Ile)
c.2537G>T (p.Arg846Ile)
c.2510G>T (p.Arg837Ile)
5g.148123889A>CCA361647746SPINK5c.2595A>C (p.Arg865Ser)
c.2538A>C (p.Arg846Ser)
c.2511A>C (p.Arg837Ser)
5g.148123889A>GCA446937392SPINK5c.2595A>G (p.Arg865=)
c.2538A>G (p.Arg846=)
c.2511A>G (p.Arg837=)
5g.148123889A>TCA361647749SPINK5c.2595A>T (p.Arg865Ser)
c.2538A>T (p.Arg846Ser)
c.2511A>T (p.Arg837Ser)
5g.148123908_148123909insCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATAACCCTGTTCGAGCA2675857896SPINK5c.2614_2615insCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATAACCCTGTTCGAG (p.Gly872AlafsTer?)
c.2557_2558insCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATAACCCTGTTCGAG (p.Gly853AlafsTer?)
c.2530_2531insCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATAACCCTGTTCGAG (p.Gly844AlafsTer?)
 gnomAD v4
5g.148123890G>ACA361647752SPINK5c.2596G>A (p.Glu866Lys)
c.2539G>A (p.Glu847Lys)
c.2512G>A (p.Glu838Lys)
 COSMIC COSMIC
5g.148123890G>CCA361647750SPINK5c.2596G>C (p.Glu866Gln)
c.2539G>C (p.Glu847Gln)
c.2512G>C (p.Glu838Gln)
5g.148123890G=CA1589899749SPINK5c.2596G= (p.Glu866=)
c.2539G= (p.Glu847=)
c.2512G= (p.Glu838=)
5g.148123890G>TCA3496043SPINK5c.2596G>T (p.Glu866Ter)
c.2539G>T (p.Glu847Ter)
c.2512G>T (p.Glu838Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148123891A=CA1589899750SPINK5c.2597A= (p.Glu866=)
c.2540A= (p.Glu847=)
c.2513A= (p.Glu838=)
5g.148123891A>CCA128939846SPINK5c.2597A>C (p.Glu866Ala)
c.2540A>C (p.Glu847Ala)
c.2513A>C (p.Glu838Ala)
 dbSNP COSMIC
5g.148123891A>GCA361647755SPINK5c.2597A>G (p.Glu866Gly)
c.2540A>G (p.Glu847Gly)
c.2513A>G (p.Glu838Gly)
5g.148123891A>TCA361647759SPINK5c.2597A>T (p.Glu866Val)
c.2540A>T (p.Glu847Val)
c.2513A>T (p.Glu838Val)
5g.148123892A>CCA361647762SPINK5c.2598A>C (p.Glu866Asp)
c.2541A>C (p.Glu847Asp)
c.2514A>C (p.Glu838Asp)
5g.148123892A>GCA446937394SPINK5c.2598A>G (p.Glu866=)
c.2541A>G (p.Glu847=)
c.2514A>G (p.Glu838=)
5g.148123892A>TCA361647765SPINK5c.2598A>T (p.Glu866Asp)
c.2541A>T (p.Glu847Asp)
c.2514A>T (p.Glu838Asp)
5g.148123893A=CA1589899751SPINK5c.2599A= (p.Asn867=)
c.2542A= (p.Asn848=)
c.2515A= (p.Asn839=)
5g.148123893A>CCA361647767SPINK5c.2599A>C (p.Asn867His)
c.2542A>C (p.Asn848His)
c.2515A>C (p.Asn839His)
5g.148123893A>GCA361647769SPINK5c.2599A>G (p.Asn867Asp)
c.2542A>G (p.Asn848Asp)
c.2515A>G (p.Asn839Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
5g.148123893A>TCA361647772SPINK5c.2599A>T (p.Asn867Tyr)
c.2542A>T (p.Asn848Tyr)
c.2515A>T (p.Asn839Tyr)
5g.148123894A=CA1589899752SPINK5c.2600A= (p.Asn867=)
c.2543A= (p.Asn848=)
c.2516A= (p.Asn839=)
5g.148123894A>CCA361647785SPINK5c.2600A>C (p.Asn867Thr)
c.2543A>C (p.Asn848Thr)
c.2516A>C (p.Asn839Thr)
5g.148123894A>GCA361647787SPINK5c.2600A>G (p.Asn867Ser)
c.2543A>G (p.Asn848Ser)
c.2516A>G (p.Asn839Ser)
 dbSNP gnomAD v2 gnomAD v4
5g.148123894A>TCA128939864SPINK5c.2600A>T (p.Asn867Ile)
c.2543A>T (p.Asn848Ile)
c.2516A>T (p.Asn839Ile)
 dbSNP
5g.148123895T>ACA361647791SPINK5c.2601T>A (p.Asn867Lys)
c.2544T>A (p.Asn848Lys)
c.2517T>A (p.Asn839Lys)
5g.148123895T>CCA446937398SPINK5c.2601T>C (p.Asn867=)
c.2544T>C (p.Asn848=)
c.2517T>C (p.Asn839=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123895T>GCA361647794SPINK5c.2601T>G (p.Asn867Lys)
c.2544T>G (p.Asn848Lys)
c.2517T>G (p.Asn839Lys)
5g.148123895T=CA1589899753SPINK5c.2601T= (p.Asn867=)
c.2544T= (p.Asn848=)
c.2517T= (p.Asn839=)
5g.148123896A>CCA361647799SPINK5c.2602A>C (p.Asn868His)
c.2545A>C (p.Asn849His)
c.2518A>C (p.Asn840His)
 gnomAD v4
5g.148123896A>GCA361647802SPINK5c.2602A>G (p.Asn868Asp)
c.2545A>G (p.Asn849Asp)
c.2518A>G (p.Asn840Asp)
5g.148123896A>TCA361647796SPINK5c.2602A>T (p.Asn868Tyr)
c.2545A>T (p.Asn849Tyr)
c.2518A>T (p.Asn840Tyr)
5g.148123897A>CCA361647805SPINK5c.2603A>C (p.Asn868Thr)
c.2546A>C (p.Asn849Thr)
c.2519A>C (p.Asn840Thr)
5g.148123897A>GCA361647806SPINK5c.2603A>G (p.Asn868Ser)
c.2546A>G (p.Asn849Ser)
c.2519A>G (p.Asn840Ser)
5g.148123897A>TCA361647807SPINK5c.2603A>T (p.Asn868Ile)
c.2546A>T (p.Asn849Ile)
c.2519A>T (p.Asn840Ile)
5g.148123898C>ACA361647809SPINK5c.2604C>A (p.Asn868Lys)
c.2547C>A (p.Asn849Lys)
c.2520C>A (p.Asn840Lys)
 dbSNP
5g.148123898C=CA1589899754SPINK5c.2604C= (p.Asn868=)
c.2547C= (p.Asn849=)
c.2520C= (p.Asn840=)
5g.148123898C>GCA128939867SPINK5c.2604C>G (p.Asn868Lys)
c.2547C>G (p.Asn849Lys)
c.2520C>G (p.Asn840Lys)
 dbSNP gnomAD v4
5g.148123898C>TCA446937402SPINK5c.2604C>T (p.Asn868=)
c.2547C>T (p.Asn849=)
c.2520C>T (p.Asn840=)
 dbSNP gnomAD v2 gnomAD v4
5g.148123899C>ACA361647817SPINK5c.2605C>A (p.Pro869Thr)
c.2548C>A (p.Pro850Thr)
c.2521C>A (p.Pro841Thr)
5g.148123899C>GCA361647815SPINK5c.2605C>G (p.Pro869Ala)
c.2548C>G (p.Pro850Ala)
c.2521C>G (p.Pro841Ala)
5g.148123899C>TCA361647813SPINK5c.2605C>T (p.Pro869Ser)
c.2548C>T (p.Pro850Ser)
c.2521C>T (p.Pro841Ser)
5g.148123900C>ACA361647820SPINK5c.2606C>A (p.Pro869His)
c.2549C>A (p.Pro850His)
c.2522C>A (p.Pro841His)
5g.148123900C>GCA361647822SPINK5c.2606C>G (p.Pro869Arg)
c.2549C>G (p.Pro850Arg)
c.2522C>G (p.Pro841Arg)
5g.148123900C>TCA361647825SPINK5c.2606C>T (p.Pro869Leu)
c.2549C>T (p.Pro850Leu)
c.2522C>T (p.Pro841Leu)
5g.148123901T>ACA446937405SPINK5c.2607T>A (p.Pro869=)
c.2550T>A (p.Pro850=)
c.2523T>A (p.Pro841=)
5g.148123901T>CCA128939869SPINK5c.2607T>C (p.Pro869=)
c.2550T>C (p.Pro850=)
c.2523T>C (p.Pro841=)
 dbSNP
5g.148123901T>GCA446937406SPINK5c.2607T>G (p.Pro869=)
c.2550T>G (p.Pro850=)
c.2523T>G (p.Pro841=)
5g.148123901T=CA1589899755SPINK5c.2607T= (p.Pro869=)
c.2550T= (p.Pro850=)
c.2523T= (p.Pro841=)
5g.148123902G>ACA361647827SPINK5c.2608G>A (p.Val870Ile)
c.2551G>A (p.Val851Ile)
c.2524G>A (p.Val842Ile)
5g.148123902G>CCA361647829SPINK5c.2608G>C (p.Val870Leu)
c.2551G>C (p.Val851Leu)
c.2524G>C (p.Val842Leu)
5g.148123902G>TCA361647831SPINK5c.2608G>T (p.Val870Phe)
c.2551G>T (p.Val851Phe)
c.2524G>T (p.Val842Phe)
5g.148123903T>ACA361647839SPINK5c.2609T>A (p.Val870Asp)
c.2552T>A (p.Val851Asp)
c.2525T>A (p.Val842Asp)
5g.148123903T>CCA361647835SPINK5c.2609T>C (p.Val870Ala)
c.2552T>C (p.Val851Ala)
c.2525T>C (p.Val842Ala)
5g.148123903T>GCA361647838SPINK5c.2609T>G (p.Val870Gly)
c.2552T>G (p.Val851Gly)
c.2525T>G (p.Val842Gly)
5g.148123904T>ACA446937410SPINK5c.2610T>A (p.Val870=)
c.2553T>A (p.Val851=)
c.2526T>A (p.Val842=)
5g.148123904T>CCA446937411SPINK5c.2610T>C (p.Val870=)
c.2553T>C (p.Val851=)
c.2526T>C (p.Val842=)
5g.148123904T>GCA446937413SPINK5c.2610T>G (p.Val870=)
c.2553T>G (p.Val851=)
c.2526T>G (p.Val842=)
5g.148123905C>ACA446937414SPINK5c.2611C>A (p.Arg871=)
c.2554C>A (p.Arg852=)
c.2527C>A (p.Arg843=)
5g.148123905C=CA1589899756SPINK5c.2611C= (p.Arg871=)
c.2554C= (p.Arg852=)
c.2527C= (p.Arg843=)
5g.148123905C>GCA361647841SPINK5c.2611C>G (p.Arg871Gly)
c.2554C>G (p.Arg852Gly)
c.2527C>G (p.Arg843Gly)
5g.148123905C>TCA361647846SPINK5c.2611C>T (p.Arg871Ter)
c.2554C>T (p.Arg852Ter)
c.2527C>T (p.Arg843Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.148123906G>ACA3496044SPINK5c.2612G>A (p.Arg871Gln)
c.2555G>A (p.Arg852Gln)
c.2528G>A (p.Arg843Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123906G>CCA361647849SPINK5c.2612G>C (p.Arg871Pro)
c.2555G>C (p.Arg852Pro)
c.2528G>C (p.Arg843Pro)
5g.148123906G=CA1589899757SPINK5c.2612G= (p.Arg871=)
c.2555G= (p.Arg852=)
c.2528G= (p.Arg843=)
5g.148123906G>TCA361647851SPINK5c.2612G>T (p.Arg871Leu)
c.2555G>T (p.Arg852Leu)
c.2528G>T (p.Arg843Leu)
5g.148123907A>CCA446937419SPINK5c.2613A>C (p.Arg871=)
c.2556A>C (p.Arg852=)
c.2529A>C (p.Arg843=)
5g.148123907A>GCA446937421SPINK5c.2613A>G (p.Arg871=)
c.2556A>G (p.Arg852=)
c.2529A>G (p.Arg843=)
5g.148123907A>TCA446937420SPINK5c.2613A>T (p.Arg871=)
c.2556A>T (p.Arg852=)
c.2529A>T (p.Arg843=)
5g.148123908G>ACA361647857SPINK5c.2614G>A (p.Gly872Ser)
c.2557G>A (p.Gly853Ser)
c.2530G>A (p.Gly844Ser)
5g.148123908G>CCA361647855SPINK5c.2614G>C (p.Gly872Arg)
c.2557G>C (p.Gly853Arg)
c.2530G>C (p.Gly844Arg)
5g.148123908G>TCA361647853SPINK5c.2614G>T (p.Gly872Cys)
c.2557G>T (p.Gly853Cys)
c.2530G>T (p.Gly844Cys)
5g.148123909G>ACA3496045SPINK5c.2615G>A (p.Gly872Asp)
c.2558G>A (p.Gly853Asp)
c.2531G>A (p.Gly844Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123909G>CCA361647877SPINK5c.2615G>C (p.Gly872Ala)
c.2558G>C (p.Gly853Ala)
c.2531G>C (p.Gly844Ala)
5g.148123909G=CA1589899758SPINK5c.2615G= (p.Gly872=)
c.2558G= (p.Gly853=)
c.2531G= (p.Gly844=)
5g.148123909G>TCA361647881SPINK5c.2615G>T (p.Gly872Val)
c.2558G>T (p.Gly853Val)
c.2531G>T (p.Gly844Val)
5g.148123910C>ACA446937425SPINK5c.2616C>A (p.Gly872=)
c.2559C>A (p.Gly853=)
c.2532C>A (p.Gly844=)
5g.148123910C>GCA446937426SPINK5c.2616C>G (p.Gly872=)
c.2559C>G (p.Gly853=)
c.2532C>G (p.Gly844=)
5g.148123910C>TCA446937427SPINK5c.2616C>T (p.Gly872=)
c.2559C>T (p.Gly853=)
c.2532C>T (p.Gly844=)
5g.148123911C>ACA361647887SPINK5c.2617C>A (p.Pro873Thr)
c.2560C>A (p.Pro854Thr)
c.2533C>A (p.Pro845Thr)
5g.148123911C=CA1589899759SPINK5c.2617C= (p.Pro873=)
c.2560C= (p.Pro854=)
c.2533C= (p.Pro845=)
5g.148123911C>GCA3496046SPINK5c.2617C>G (p.Pro873Ala)
c.2560C>G (p.Pro854Ala)
c.2533C>G (p.Pro845Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148123911C>TCA361647897SPINK5c.2617C>T (p.Pro873Ser)
c.2560C>T (p.Pro854Ser)
c.2533C>T (p.Pro845Ser)
 dbSNP gnomAD v3 gnomAD v4
5g.148123912C>ACA361647901SPINK5c.2618C>A (p.Pro873Gln)
c.2561C>A (p.Pro854Gln)
c.2534C>A (p.Pro845Gln)
5g.148123912C>GCA361647904SPINK5c.2618C>G (p.Pro873Arg)
c.2561C>G (p.Pro854Arg)
c.2534C>G (p.Pro845Arg)
5g.148123912C>TCA361647902SPINK5c.2618C>T (p.Pro873Leu)
c.2561C>T (p.Pro854Leu)
c.2534C>T (p.Pro845Leu)
5g.148123913A=CA1589899760SPINK5c.2619A= (p.Pro873=)
c.2562A= (p.Pro854=)
c.2535A= (p.Pro845=)
5g.148123913A>CCA446937432SPINK5c.2619A>C (p.Pro873=)
c.2562A>C (p.Pro854=)
c.2535A>C (p.Pro845=)
5g.148123913A>GCA128939900SPINK5c.2619A>G (p.Pro873=)
c.2562A>G (p.Pro854=)
c.2535A>G (p.Pro845=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123913A>TCA446937433SPINK5c.2619A>T (p.Pro873=)
c.2562A>T (p.Pro854=)
c.2535A>T (p.Pro845=)
5g.148123914T>ACA361647912SPINK5c.2620T>A (p.Tyr874Asn)
c.2563T>A (p.Tyr855Asn)
c.2536T>A (p.Tyr846Asn)
5g.148123914T>CCA361647915SPINK5c.2620T>C (p.Tyr874His)
c.2563T>C (p.Tyr855His)
c.2536T>C (p.Tyr846His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148123914T>GCA361647917SPINK5c.2620T>G (p.Tyr874Asp)
c.2563T>G (p.Tyr855Asp)
c.2536T>G (p.Tyr846Asp)
5g.148123914T=CA1589899761SPINK5c.2620T= (p.Tyr874=)
c.2563T= (p.Tyr855=)
c.2536T= (p.Tyr846=)
5g.148123915A=CA1589899762SPINK5c.2621A= (p.Tyr874=)
c.2564A= (p.Tyr855=)
c.2537A= (p.Tyr846=)
5g.148123915A>CCA361647921SPINK5c.2621A>C (p.Tyr874Ser)
c.2564A>C (p.Tyr855Ser)
c.2537A>C (p.Tyr846Ser)
5g.148123915A>GCA361647924SPINK5c.2621A>G (p.Tyr874Cys)
c.2564A>G (p.Tyr855Cys)
c.2537A>G (p.Tyr846Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.148123915A>TCA361647926SPINK5c.2621A>T (p.Tyr874Phe)
c.2564A>T (p.Tyr855Phe)
c.2537A>T (p.Tyr846Phe)
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=)

Number of alleles fetched