Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.147830564_147831899delCA2695198784SPINK1c.-191-129_56-932del
c.-224-96_56-932del
ClinVar
5g.147831549C>ACA361885531SPINK1c.29G>T (p.Ser10Ile)
5g.147831549C=CA1589764829SPINK1c.29G= (p.Ser10=)
5g.147831549C>GCA361885532SPINK1c.29G>C (p.Ser10Thr)
5g.147831549C>TCA3494830SPINK1c.29G>A (p.Ser10Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831550T>ACA361885535SPINK1c.28A>T (p.Ser10Cys)
5g.147831550T>CCA361885534SPINK1c.28A>G (p.Ser10Gly)
5g.147831550T>GCA361885533SPINK1c.28A>C (p.Ser10Arg)
5g.147831550_147831551delinsTGCA1589764830SPINK1c.27_28delinsCA (p.Leu9=)
5g.147831551delCA342889SPINK1c.27del (p.Ser10ValfsTer6)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831551G>ACA447017910SPINK1c.27C>T (p.Leu9=)
COSMIC
5g.147831551G>CCA447017911SPINK1c.27C>G (p.Leu9=)
5g.147831551G>TCA447017909SPINK1c.27C>A (p.Leu9=)
5g.147831552delCA361885539SPINK1c.26del (p.Leu9ProfsTer7)
5g.147831552A>CCA361885536SPINK1c.26T>G (p.Leu9Arg)
ClinVar
5g.147831552A>GCA361885537SPINK1c.26T>C (p.Leu9Pro)
ClinVar gnomAD v4
5g.147831552A>TCA361885538SPINK1c.26T>A (p.Leu9His)
5g.147831553G>ACA361885540SPINK1c.25C>T (p.Leu9Phe)
gnomAD v4
5g.147831553G>CCA361885541SPINK1c.25C>G (p.Leu9Val)
ClinVar dbSNP
5g.147831553G=CA1589764831SPINK1c.25C= (p.Leu9=)
5g.147831553G>TCA361885542SPINK1c.25C>A (p.Leu9Ile)
5g.147831554A>CCA447017914SPINK1c.24T>G (p.Leu8=)
5g.147831554A>GCA447017913SPINK1c.24T>C (p.Leu8=)
5g.147831554A>TCA447017912SPINK1c.24T>A (p.Leu8=)
5g.147831555A>CCA361885543SPINK1c.23T>G (p.Leu8Arg)
5g.147831555A>GCA361885544SPINK1c.23T>C (p.Leu8Pro)
ClinVar
5g.147831555A>TCA361885545SPINK1c.23T>A (p.Leu8His)
5g.147831556G>ACA361885546SPINK1c.22C>T (p.Leu8Phe)
dbSNP gnomAD v2 gnomAD v4 COSMIC
5g.147831556G>CCA361885547SPINK1c.22C>G (p.Leu8Val)
5g.147831556G=CA1589764832SPINK1c.22C= (p.Leu8=)
5g.147831556G>TCA361885548SPINK1c.22C>A (p.Leu8Ile)
dbSNP
5g.147831557A>CCA361885550SPINK1c.21T>G (p.Phe7Leu)
5g.147831557A>GCA447017915SPINK1c.21T>C (p.Phe7=)
5g.147831557A>TCA361885549SPINK1c.21T>A (p.Phe7Leu)
5g.147831558A>CCA361885551SPINK1c.20T>G (p.Phe7Cys)
5g.147831558A>GCA361885552SPINK1c.20T>C (p.Phe7Ser)
5g.147831558A>TCA361885553SPINK1c.20T>A (p.Phe7Tyr)
5g.147831559A=CA1589764833SPINK1c.19T= (p.Phe7=)
5g.147831559A>CCA361885554SPINK1c.19T>G (p.Phe7Val)
5g.147831559A>GCA361885555SPINK1c.19T>C (p.Phe7Leu)
dbSNP
5g.147831559A>TCA129690370SPINK1c.19T>A (p.Phe7Ile)
ClinVar dbSNP
5g.147831560G>ACA447017916SPINK1c.18C>T (p.Ile6=)
5g.147831560G>CCA361885556SPINK1c.18C>G (p.Ile6Met)
5g.147831560G>TCA447017917SPINK1c.18C>A (p.Ile6=)
5g.147831561A>CCA361885557SPINK1c.17T>G (p.Ile6Ser)
5g.147831561A>GCA361885558SPINK1c.17T>C (p.Ile6Thr)
gnomAD v4
5g.147831561A>TCA361885559SPINK1c.17T>A (p.Ile6Asn)
5g.147831562T>ACA361885560SPINK1c.16A>T (p.Ile6Phe)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.147831562T>CCA361885561SPINK1c.16A>G (p.Ile6Val)
dbSNP
5g.147831562T>GCA361885562SPINK1c.16A>C (p.Ile6Leu)
5g.147831562T=CA1589764834SPINK1c.16A= (p.Ile6=)
5g.147831563G>ACA447017918SPINK1c.15C>T (p.Gly5=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.147831563G>CCA447017919SPINK1c.15C>G (p.Gly5=)
dbSNP
5g.147831563G=CA1589764835SPINK1c.15C= (p.Gly5=)
5g.147831563G>TCA447017920SPINK1c.15C>A (p.Gly5=)
5g.147831564C>ACA361885563SPINK1c.14G>T (p.Gly5Val)
5g.147831564C=CA1589764836SPINK1c.14G= (p.Gly5=)
5g.147831564C>GCA361885564SPINK1c.14G>C (p.Gly5Ala)
gnomAD v4
5g.147831564C>TCA3494831SPINK1c.14G>A (p.Gly5Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.147831565C>ACA361885565SPINK1c.13G>T (p.Gly5Cys)
gnomAD v4
5g.147831565C=CA1589764837SPINK1c.13G= (p.Gly5=)
5g.147831565C>GCA361885567SPINK1c.13G>C (p.Gly5Arg)
5g.147831565C>TCA361885566SPINK1c.13G>A (p.Gly5Ser)
dbSNP
5g.147831566T>ACA447017921SPINK1c.12A>T (p.Thr4=)
5g.147831566T>CCA447017922SPINK1c.12A>G (p.Thr4=)
5g.147831566T>GCA447017923SPINK1c.12A>C (p.Thr4=)
5g.147831566_147831584delinsTGTTACCTTCATGGCTGAACA1589764838SPINK1c.-7_12delinsTTCAGCCATGAAGGTAACA
5g.147831567G>ACA361885568SPINK1c.11C>T (p.Thr4Ile)
5g.147831567G>CCA361885569SPINK1c.11C>G (p.Thr4Arg)
5g.147831567G>TCA361885570SPINK1c.11C>A (p.Thr4Lys)
5g.147831570_147831587delCA1589764839SPINK1c.-7_11del
dbSNP
5g.147831568T>ACA361885571SPINK1c.10A>T (p.Thr4Ser)
5g.147831568T>CCA361885572SPINK1c.10A>G (p.Thr4Ala)
5g.147831568T>GCA361885573SPINK1c.10A>C (p.Thr4Pro)
5g.147831569T>ACA447017924SPINK1c.9A>T (p.Val3=)
5g.147831569T>CCA447017925SPINK1c.9A>G (p.Val3=)
5g.147831569T>GCA447017926SPINK1c.9A>C (p.Val3=)
ClinVar
5g.147831570A=CA1589764840SPINK1c.8T= (p.Val3=)
5g.147831570A>CCA361885574SPINK1c.8T>G (p.Val3Gly)
5g.147831570A>GCA3494832SPINK1c.8T>C (p.Val3Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831570A>TCA361885575SPINK1c.8T>A (p.Val3Glu)
5g.147831571C>ACA361885576SPINK1c.7G>T (p.Val3Leu)
5g.147831571C=CA1589764841SPINK1c.7G= (p.Val3=)
5g.147831571C>GCA361885577SPINK1c.7G>C (p.Val3Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.147831571C>TCA361885578SPINK1c.7G>A (p.Val3Ile)
ClinVar gnomAD v4
5g.147831572C>ACA361885579SPINK1c.6G>T (p.Lys2Asn)
5g.147831572C=CA1589764842SPINK1c.6G= (p.Lys2=)
5g.147831572C>GCA129690371SPINK1c.6G>C (p.Lys2Asn)
dbSNP gnomAD v3 gnomAD v4
5g.147831572C>TCA447017927SPINK1c.6G>A (p.Lys2=)
ClinVar dbSNP
5g.147831573T>ACA361885580SPINK1c.5A>T (p.Lys2Met)
5g.147831573T>CCA3494833SPINK1c.5A>G (p.Lys2Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
5g.147831573T>GCA361885581SPINK1c.5A>C (p.Lys2Thr)
gnomAD v4
5g.147831573T=CA1589764843SPINK1c.5A= (p.Lys2=)
5g.147831573_147831574insCCA2768825479SPINK1c.4_5insG (p.Lys2ArgfsTer19)
5g.147831574T>ACA361885582SPINK1c.4A>T (p.Lys2Ter)
5g.147831574T>CCA361885583SPINK1c.4A>G (p.Lys2Glu)
5g.147831574T>GCA361885584SPINK1c.4A>C (p.Lys2Gln)
5g.147831575C>ACA361885585SPINK1c.3G>T (p.Met1Ile)
5g.147831575C=CA1589764844SPINK1c.3G= (p.Met1=)
5g.147831575C>GCA361885586SPINK1c.3G>C (p.Met1Ile)
5g.147831575C>TCA361885587SPINK1c.3G>A (p.Met1Ile)
5g.147831575_147831576insTCA563737652SPINK1c.2_3insA (p.Met1IlefsTer20)
dbSNP gnomAD v2 gnomAD v4
5g.147831576A=CA1589764845SPINK1c.2T= (p.Met1=)
5g.147831576A>CCA361885588SPINK1c.2T>G (p.Met1Arg)
ClinVar dbSNP gnomAD v4
5g.147831576A>GCA256959SPINK1c.2T>C (p.Met1Thr)
ClinVar dbSNP gnomAD v4
5g.147831576A>TCA361885589SPINK1c.2T>A (p.Met1Lys)
5g.147831577T>ACA361885591SPINK1c.1A>T (p.Met1Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
5g.147831577T>CCA129690372SPINK1c.1A>G (p.Met1Val)
dbSNP
5g.147831577T>GCA361885590SPINK1c.1A>C (p.Met1Leu)
5g.147831577T=CA1589764846SPINK1c.1A= (p.Met1=)
5g.147831578G>ACA2578442991SPINK1c.-1C>T (n.-1C>T)
gnomAD v4
5g.147831578G>TCA2580614763SPINK1c.-1C>A (n.-1C>A)
ClinVar
5g.147831579G>ACA2675849744SPINK1c.-2C>T (n.-2C>T)
gnomAD v4
5g.147831579G=CA1589764847SPINK1c.-2C= (n.-2C=)
5g.147831579G>TCA3494834SPINK1c.-2C>A (n.-2C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.147831582G>ACA129690373SPINK1c.-5C>T (n.-5C>T)
dbSNP gnomAD v4
5g.147831582G=CA1589764848SPINK1c.-5C= (n.-5C=)
5g.147831584A=CA1589764849SPINK1c.-7T= (n.-7T=)
5g.147831584A>GCA1589764850SPINK1c.-7T>C (n.-7T>C)
dbSNP
5g.147831585G>ACA3494835SPINK1c.-8C>T (n.-8C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831585G=CA1589764851SPINK1c.-8C= (n.-8C=)
5g.147831585G>TCA2675849745SPINK1c.-8C>A (n.-8C>A)
gnomAD v4
5g.147831589T>GCA1082704787SPINK1c.-12A>C (n.-12A>C)
dbSNP gnomAD v3 gnomAD v4
5g.147831589T=CA1589764852SPINK1c.-12A= (n.-12A=)
5g.147831591C=CA1589764853SPINK1c.-14G= (n.-14G=)
5g.147831591C>TCA3494836SPINK1c.-14G>A (n.-14G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831592G>ACA3494838SPINK1c.-15C>T (n.-15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831592G>CCA805371970SPINK1c.-15C>G (n.-15C>G)
dbSNP
5g.147831592G=CA1589764854SPINK1c.-15C= (n.-15C=)
5g.147831592G>TCA3494837SPINK1c.-15C>A (n.-15C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831594C=CA1589764856SPINK1c.-17G= (n.-17G=)
5g.147831594C>GCA1589764855SPINK1c.-17G>C (n.-17G>C)
dbSNP
5g.147831594C>TCA3494839SPINK1c.-17G>A (n.-17G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831597G>ACA3494840SPINK1c.-20C>T (n.-20C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831597G>CCA1589764858SPINK1c.-20C>G (n.-20C>G)
dbSNP
5g.147831597G=CA1589764857SPINK1c.-20C= (n.-20C=)
5g.147831598A=CA1589764859SPINK1c.-21T= (n.-21T=)
5g.147831598A>GCA805371976SPINK1c.-21T>C (n.-21T>C)
dbSNP
5g.147831599G>ACA3494841SPINK1c.-22C>T (n.-22C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831599G=CA1589764860SPINK1c.-22C= (n.-22C=)
5g.147831600delCA2768825480SPINK1c.-22del (n.-22del)
5g.147831600G>ACA2675849746SPINK1c.-23C>T (n.-23C>T)
gnomAD v4
5g.147831600G>CCA2564040020SPINK1c.-23C>G (n.-23C>G)
gnomAD v4
5g.147831601T>ACA1589764862SPINK1c.-24A>T (n.-24A>T)
dbSNP
5g.147831601T=CA1589764861SPINK1c.-24A= (n.-24A=)
5g.147831602C>ACA2675849747SPINK1c.-25G>T (n.-25G>T)
gnomAD v4
5g.147831603A>GCA2839095750SPINK1c.-26T>C (n.-26T>C)
5g.147831604G>ACA1589764864SPINK1c.-27C>T (n.-27C>T)
dbSNP
5g.147831604G=CA1589764863SPINK1c.-27C= (n.-27C=)
5g.147831605T>ACA1589764865SPINK1c.-28A>T (n.-28A>T)
dbSNP
5g.147831605T>CCA3494842SPINK1c.-28A>G (n.-28A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.147831605T=CA1589764866SPINK1c.-28A= (n.-28A=)
5g.147831607G>ACA563737657SPINK1c.-30C>T (n.-30C>T)
dbSNP gnomAD v2
5g.147831607G=CA1589764867SPINK1c.-30C= (n.-30C=)
5g.147831611delCA2534085684SPINK1c.-31del (n.-31del)
5g.147831610A=CA1589764868SPINK1c.-33T= (n.-33T=)
5g.147831610A>TCA563737659SPINK1c.-33T>A (n.-33T>A)
dbSNP gnomAD v2 gnomAD v4
5g.147831611A>GCA2675849748SPINK1c.-34T>C (n.-34T>C)
gnomAD v4
5g.147831611A>TCA2578442992SPINK1c.-34T>A (n.-34T>A)
5g.147831612C>TCA2768825481SPINK1c.-35G>A (n.-35G>A)
5g.147831613T>ACA805371998SPINK1c.-36A>T (n.-36A>T)
dbSNP gnomAD v3 gnomAD v4
5g.147831613T>CCA2675849749SPINK1c.-36A>G (n.-36A>G)
gnomAD v4
5g.147831613T=CA1589764869SPINK1c.-36A= (n.-36A=)
5g.147831614G>ACA1589764871SPINK1c.-37C>T (n.-37C>T)
dbSNP
5g.147831614G=CA1589764870SPINK1c.-37C= (n.-37C=)
5g.147831614G>TCA2675849750SPINK1c.-37C>A (n.-37C>A)
gnomAD v4
5g.147831614_147831615insTTTTGACCTGTTGCTTTGTGAAGCACA917605015SPINK1c.-38_-37insTGCTTCACAAAGCAACAGGTCAAAA (n.-38_-37insTGCTTCACAAAGCAACAGGTCAAAA)
dbSNP
5g.147831615C=CA1589764872SPINK1c.-38G= (n.-38G=)
5g.147831615C>TCA129690374SPINK1c.-38G>A (n.-38G>A)
dbSNP gnomAD v2 gnomAD v4
5g.147831617C=CA1589764873SPINK1c.-40G= (n.-40G=)
5g.147831617C>GCA2675849751SPINK1c.-40G>C (n.-40G>C)
gnomAD v4
5g.147831617C>TCA3494843SPINK1c.-40G>A (n.-40G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831618C>ACA2581464056SPINK1c.-41G>T (n.-41G>T)
gnomAD v4
5g.147831618C=CA1589764874SPINK1c.-41G= (n.-41G=)
5g.147831618C>GCA2581464057SPINK1c.-41G>C (n.-41G>C)
5g.147831618C>TCA3494844SPINK1c.-41G>A (n.-41G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831619G>ACA3494845SPINK1c.-42C>T (n.-42C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831619G=CA1589764875SPINK1c.-42C= (n.-42C=)
5g.147831619G>TCA3494846SPINK1c.-42C>A (n.-42C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831620C=CA1589764876SPINK1c.-43G= (n.-43G=)
5g.147831620C>TCA3494847SPINK1c.-43G>A (n.-43G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831621A=CA1589764877SPINK1c.-44T= (n.-44T=)
5g.147831621A>CCA805372024SPINK1c.-44T>G (n.-44T>G)
dbSNP gnomAD v3 gnomAD v4
5g.147831621A>GCA563737664SPINK1c.-44T>C (n.-44T>C)
dbSNP gnomAD v2 gnomAD v4
5g.147831622C>ACA2675849752SPINK1c.-45G>T (n.-45G>T)
gnomAD v4
5g.147831622C=CA1589764878SPINK1c.-45G= (n.-45G=)
5g.147831622C>TCA3494849SPINK1c.-45G>A (n.-45G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.147831624dupCA3494848SPINK1c.-46dup (n.-46dup)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831625dupCA2578442993SPINK1c.-48dup (n.-48dup)
gnomAD v4
5g.147831627C>ACA1589764879SPINK1c.-50G>T (n.-50G>T)
dbSNP
5g.147831627C=CA1589764880SPINK1c.-50G= (n.-50G=)
5g.147831627C>TCA3494850SPINK1c.-50G>A (n.-50G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.147831628A>GCA2838431461SPINK1c.-51T>C (n.-51T>C)
5g.147831629C>ACA1589764882SPINK1c.-52G>T (n.-52G>T)
dbSNP gnomAD v4
5g.147831629C=CA1589764881SPINK1c.-52G= (n.-52G=)
5g.147831629C>GCA2675849753SPINK1c.-52G>C (n.-52G>C)
gnomAD v4
5g.147831629C>TCA3494851SPINK1c.-52G>A (n.-52G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.147831630G>ACA129690375SPINK1c.-53C>T (n.-53C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.147831630G=CA1589764883SPINK1c.-53C= (n.-53C=)
5g.147831630G>TCA1589764884SPINK1c.-53C>A (n.-53C>A)
dbSNP gnomAD v4
5g.147831632C>ACA2675849754SPINK1c.-55G>T (n.-55G>T)
gnomAD v4
5g.147831632C>GCA2675849755SPINK1c.-55G>C (n.-55G>C)
gnomAD v4
5g.147831632C>TCA2675849756SPINK1c.-55G>A (n.-55G>A)
gnomAD v4
5g.147831633T>CCA2675849757SPINK1c.-56A>G (n.-56A>G)
gnomAD v4
5g.147831634C>ACA2675849758SPINK1c.-57G>T (n.-57G>T)
gnomAD v4
5g.147831635T>CCA2675849759SPINK1c.-58A>G (n.-58A>G)
gnomAD v4
5g.147831637C>ACA2675849760SPINK1c.-60G>T (n.-60G>T)
gnomAD v4
5g.147831638A>GCA2578442994SPINK1c.-61T>C (n.-61T>C)
gnomAD v4
5g.147831639G>ACA1589764886SPINK1c.-62C>T (n.-62C>T)
dbSNP gnomAD v4
5g.147831639G=CA1589764885SPINK1c.-62C= (n.-62C=)
5g.147831641A>GCA2675849761SPINK1c.-64T>C (n.-64T>C)
gnomAD v4
5g.147831642G>ACA2578442995SPINK1c.-65C>T (n.-65C>T)
gnomAD v4
5g.147831642G>TCA2838431462SPINK1c.-65C>A (n.-65C>A)
5g.147831643C>TCA2578442996SPINK1c.-66G>A (n.-66G>A)
gnomAD v4
5g.147831644C>ACA2675849763SPINK1c.-67G>T (n.-67G>T)
gnomAD v4
5g.147831644C>TCA2675849762SPINK1c.-67G>A (n.-67G>A)
gnomAD v4
5g.147831645T>CCA2841822685SPINK1c.-68A>G (n.-68A>G)
5g.147831646G>ACA2675849764SPINK1c.-69C>T (n.-69C>T)
gnomAD v4
5g.147831646G>TCA2675849765SPINK1c.-69C>A (n.-69C>A)
gnomAD v4
5g.147831647G>TCA2675849766SPINK1c.-70C>A (n.-70C>A)
gnomAD v4
5g.147831648G>ACA2675849768SPINK1c.-71C>T (n.-71C>T)
gnomAD v4
5g.147831648G>TCA2675849767SPINK1c.-71C>A (n.-71C>A)
gnomAD v4
5g.147831649A>GCA2841822686SPINK1c.-72T>C (n.-72T>C)

Number of alleles fetched