Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148131203C=CA1589902845SPINK5c.2965-56C= (n.2965-56C=)
c.3055-56C= (n.3055-56C=)
c.2998-56C= (n.2998-56C=)
c.2971-56C= (n.2971-56C=)
5g.148131203C>GCA1589902846SPINK5c.2965-56C>G (n.2965-56C>G)
c.3055-56C>G (n.3055-56C>G)
c.2998-56C>G (n.2998-56C>G)
c.2971-56C>G (n.2971-56C>G)
 dbSNP gnomAD v4
5g.148131203C>TCA805391375SPINK5c.2965-56C>T (n.2965-56C>T)
c.3055-56C>T (n.3055-56C>T)
c.2998-56C>T (n.2998-56C>T)
c.2971-56C>T (n.2971-56C>T)
 dbSNP
5g.148131204C>ACA1082736747SPINK5c.2965-55C>A (n.2965-55C>A)
c.3055-55C>A (n.3055-55C>A)
c.2998-55C>A (n.2998-55C>A)
c.2971-55C>A (n.2971-55C>A)
 dbSNP gnomAD v3 gnomAD v4
5g.148131204C=CA1589902847SPINK5c.2965-55C= (n.2965-55C=)
c.3055-55C= (n.3055-55C=)
c.2998-55C= (n.2998-55C=)
c.2971-55C= (n.2971-55C=)
5g.148131204C>TCA2842333900SPINK5c.2965-55C>T (n.2965-55C>T)
c.3055-55C>T (n.3055-55C>T)
c.2998-55C>T (n.2998-55C>T)
c.2971-55C>T (n.2971-55C>T)
5g.148131205A>CCA2578443773SPINK5c.2965-54A>C (n.2965-54A>C)
c.3055-54A>C (n.3055-54A>C)
c.2998-54A>C (n.2998-54A>C)
c.2971-54A>C (n.2971-54A>C)
 dbSNP gnomAD v4
5g.148131205A>GCA2675859631SPINK5c.2965-54A>G (n.2965-54A>G)
c.3055-54A>G (n.3055-54A>G)
c.2998-54A>G (n.2998-54A>G)
c.2971-54A>G (n.2971-54A>G)
 gnomAD v4
5g.148131206C>TCA2675859633SPINK5c.2965-53C>T (n.2965-53C>T)
c.3055-53C>T (n.3055-53C>T)
c.2998-53C>T (n.2998-53C>T)
c.2971-53C>T (n.2971-53C>T)
 gnomAD v4
5g.148131209delCA2675859632SPINK5c.2965-50del (n.2965-50del)
c.3055-50del (n.3055-50del)
c.2998-50del (n.2998-50del)
c.2971-50del (n.2971-50del)
 gnomAD v4
5g.148131207C>ACA128947085SPINK5c.2965-52C>A (n.2965-52C>A)
c.3055-52C>A (n.3055-52C>A)
c.2998-52C>A (n.2998-52C>A)
c.2971-52C>A (n.2971-52C>A)
 dbSNP gnomAD v3 gnomAD v4
5g.148131207C=CA1589902848SPINK5c.2965-52C= (n.2965-52C=)
c.3055-52C= (n.3055-52C=)
c.2998-52C= (n.2998-52C=)
c.2971-52C= (n.2971-52C=)
5g.148131207C>TCA2675859637SPINK5c.2965-52C>T (n.2965-52C>T)
c.3055-52C>T (n.3055-52C>T)
c.2998-52C>T (n.2998-52C>T)
c.2971-52C>T (n.2971-52C>T)
 gnomAD v4
5g.148131208C>ACA3496199SPINK5c.2965-51C>A (n.2965-51C>A)
c.3055-51C>A (n.3055-51C>A)
c.2998-51C>A (n.2998-51C>A)
c.2971-51C>A (n.2971-51C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131208C=CA1589902849SPINK5c.2965-51C= (n.2965-51C=)
c.3055-51C= (n.3055-51C=)
c.2998-51C= (n.2998-51C=)
c.2971-51C= (n.2971-51C=)
5g.148131209C>ACA2675859638SPINK5c.2965-50C>A (n.2965-50C>A)
c.3055-50C>A (n.3055-50C>A)
c.2998-50C>A (n.2998-50C>A)
c.2971-50C>A (n.2971-50C>A)
 gnomAD v4
5g.148131209C>TCA2578443774SPINK5c.2965-50C>T (n.2965-50C>T)
c.3055-50C>T (n.3055-50C>T)
c.2998-50C>T (n.2998-50C>T)
c.2971-50C>T (n.2971-50C>T)
5g.148131209_148131210delinsCTCA1589902850SPINK5c.2965-50_2965-49delinsCT (n.2965-50_2965-49delinsCT)
c.3055-50_3055-49delinsCT (n.3055-50_3055-49delinsCT)
c.2998-50_2998-49delinsCT (n.2998-50_2998-49delinsCT)
c.2971-50_2971-49delinsCT (n.2971-50_2971-49delinsCT)
5g.148131210delCA1082736749SPINK5c.2965-49del (n.2965-49del)
c.3055-49del (n.3055-49del)
c.2998-49del (n.2998-49del)
c.2971-49del (n.2971-49del)
 dbSNP gnomAD v3 gnomAD v4
5g.148131210T>ACA2675859642SPINK5c.2965-49T>A (n.2965-49T>A)
c.3055-49T>A (n.3055-49T>A)
c.2998-49T>A (n.2998-49T>A)
c.2971-49T>A (n.2971-49T>A)
 gnomAD v4
5g.148131210T>GCA1589902852SPINK5c.2965-49T>G (n.2965-49T>G)
c.3055-49T>G (n.3055-49T>G)
c.2998-49T>G (n.2998-49T>G)
c.2971-49T>G (n.2971-49T>G)
 dbSNP gnomAD v4
5g.148131210T=CA1589902851SPINK5c.2965-49T= (n.2965-49T=)
c.3055-49T= (n.3055-49T=)
c.2998-49T= (n.2998-49T=)
c.2971-49T= (n.2971-49T=)
5g.148131211C>ACA2675859645SPINK5c.2965-48C>A (n.2965-48C>A)
c.3055-48C>A (n.3055-48C>A)
c.2998-48C>A (n.2998-48C>A)
c.2971-48C>A (n.2971-48C>A)
 gnomAD v4
5g.148131211C>GCA2675859646SPINK5c.2965-48C>G (n.2965-48C>G)
c.3055-48C>G (n.3055-48C>G)
c.2998-48C>G (n.2998-48C>G)
c.2971-48C>G (n.2971-48C>G)
 gnomAD v4
5g.148131213T>ACA1589902854SPINK5c.2965-46T>A (n.2965-46T>A)
c.3055-46T>A (n.3055-46T>A)
c.2998-46T>A (n.2998-46T>A)
c.2971-46T>A (n.2971-46T>A)
 dbSNP gnomAD v4
5g.148131213T>CCA3496200SPINK5c.2965-46T>C (n.2965-46T>C)
c.3055-46T>C (n.3055-46T>C)
c.2998-46T>C (n.2998-46T>C)
c.2971-46T>C (n.2971-46T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131213T>GCA1589902855SPINK5c.2965-46T>G (n.2965-46T>G)
c.3055-46T>G (n.3055-46T>G)
c.2998-46T>G (n.2998-46T>G)
c.2971-46T>G (n.2971-46T>G)
 dbSNP gnomAD v4
5g.148131213T=CA1589902853SPINK5c.2965-46T= (n.2965-46T=)
c.3055-46T= (n.3055-46T=)
c.2998-46T= (n.2998-46T=)
c.2971-46T= (n.2971-46T=)
5g.148131214C>ACA2675859663SPINK5c.2965-45C>A (n.2965-45C>A)
c.3055-45C>A (n.3055-45C>A)
c.2998-45C>A (n.2998-45C>A)
c.2971-45C>A (n.2971-45C>A)
 gnomAD v4
5g.148131217G>TCA2675859664SPINK5c.2965-42G>T (n.2965-42G>T)
c.3055-42G>T (n.3055-42G>T)
c.2998-42G>T (n.2998-42G>T)
c.2971-42G>T (n.2971-42G>T)
 gnomAD v4
5g.148131219A=CA1589902856SPINK5c.2965-40A= (n.2965-40A=)
c.3055-40A= (n.3055-40A=)
c.2998-40A= (n.2998-40A=)
c.2971-40A= (n.2971-40A=)
5g.148131219A>GCA805391388SPINK5c.2965-40A>G (n.2965-40A>G)
c.3055-40A>G (n.3055-40A>G)
c.2998-40A>G (n.2998-40A>G)
c.2971-40A>G (n.2971-40A>G)
 dbSNP
5g.148131220T>ACA128947092SPINK5c.2965-39T>A (n.2965-39T>A)
c.3055-39T>A (n.3055-39T>A)
c.2998-39T>A (n.2998-39T>A)
c.2971-39T>A (n.2971-39T>A)
 dbSNP
5g.148131220T=CA1589902857SPINK5c.2965-39T= (n.2965-39T=)
c.3055-39T= (n.3055-39T=)
c.2998-39T= (n.2998-39T=)
c.2971-39T= (n.2971-39T=)
5g.148131221G>ACA805391392SPINK5c.2965-38G>A (n.2965-38G>A)
c.3055-38G>A (n.3055-38G>A)
c.2998-38G>A (n.2998-38G>A)
c.2971-38G>A (n.2971-38G>A)
 dbSNP gnomAD v3 gnomAD v4
5g.148131221G=CA1589902858SPINK5c.2965-38G= (n.2965-38G=)
c.3055-38G= (n.3055-38G=)
c.2998-38G= (n.2998-38G=)
c.2971-38G= (n.2971-38G=)
5g.148131221G>TCA2675859665SPINK5c.2965-38G>T (n.2965-38G>T)
c.3055-38G>T (n.3055-38G>T)
c.2998-38G>T (n.2998-38G>T)
c.2971-38G>T (n.2971-38G>T)
 gnomAD v4
5g.148131222C>ACA2675859668SPINK5c.2965-37C>A (n.2965-37C>A)
c.3055-37C>A (n.3055-37C>A)
c.2998-37C>A (n.2998-37C>A)
c.2971-37C>A (n.2971-37C>A)
 gnomAD v4
5g.148131222C=CA1589902859SPINK5c.2965-37C= (n.2965-37C=)
c.3055-37C= (n.3055-37C=)
c.2998-37C= (n.2998-37C=)
c.2971-37C= (n.2971-37C=)
5g.148131222C>GCA1589902860SPINK5c.2965-37C>G (n.2965-37C>G)
c.3055-37C>G (n.3055-37C>G)
c.2998-37C>G (n.2998-37C>G)
c.2971-37C>G (n.2971-37C>G)
 dbSNP
5g.148131222C>TCA3496201SPINK5c.2965-37C>T (n.2965-37C>T)
c.3055-37C>T (n.3055-37C>T)
c.2998-37C>T (n.2998-37C>T)
c.2971-37C>T (n.2971-37C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131224A=CA1589902861SPINK5c.2965-35A= (n.2965-35A=)
c.3055-35A= (n.3055-35A=)
c.2998-35A= (n.2998-35A=)
c.2971-35A= (n.2971-35A=)
5g.148131224A>GCA3496202SPINK5c.2965-35A>G (n.2965-35A>G)
c.3055-35A>G (n.3055-35A>G)
c.2998-35A>G (n.2998-35A>G)
c.2971-35A>G (n.2971-35A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131224A>TCA805391394SPINK5c.2965-35A>T (n.2965-35A>T)
c.3055-35A>T (n.3055-35A>T)
c.2998-35A>T (n.2998-35A>T)
c.2971-35A>T (n.2971-35A>T)
 dbSNP gnomAD v4
5g.148131225T>CCA2675859677SPINK5c.2965-34T>C (n.2965-34T>C)
c.3055-34T>C (n.3055-34T>C)
c.2998-34T>C (n.2998-34T>C)
c.2971-34T>C (n.2971-34T>C)
 gnomAD v4
5g.148131226A=CA1589902862SPINK5c.2965-33A= (n.2965-33A=)
c.3055-33A= (n.3055-33A=)
c.2998-33A= (n.2998-33A=)
c.2971-33A= (n.2971-33A=)
5g.148131226A>GCA1589902863SPINK5c.2965-33A>G (n.2965-33A>G)
c.3055-33A>G (n.3055-33A>G)
c.2998-33A>G (n.2998-33A>G)
c.2971-33A>G (n.2971-33A>G)
 dbSNP
5g.148131226_148131232delCA2675859681SPINK5c.2965-33_2965-27del (n.2965-33_2965-27del)
c.3055-33_3055-27del (n.3055-33_3055-27del)
c.2998-33_2998-27del (n.2998-33_2998-27del)
c.2971-33_2971-27del (n.2971-33_2971-27del)
 gnomAD v4
5g.148131229G>ACA3496203SPINK5c.2965-30G>A (n.2965-30G>A)
c.3055-30G>A (n.3055-30G>A)
c.2998-30G>A (n.2998-30G>A)
c.2971-30G>A (n.2971-30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131229G=CA1589902864SPINK5c.2965-30G= (n.2965-30G=)
c.3055-30G= (n.3055-30G=)
c.2998-30G= (n.2998-30G=)
c.2971-30G= (n.2971-30G=)
5g.148131232C=CA1589902865SPINK5c.2965-27C= (n.2965-27C=)
c.3055-27C= (n.3055-27C=)
c.2998-27C= (n.2998-27C=)
c.2971-27C= (n.2971-27C=)
5g.148131232C>GCA128947107SPINK5c.2965-27C>G (n.2965-27C>G)
c.3055-27C>G (n.3055-27C>G)
c.2998-27C>G (n.2998-27C>G)
c.2971-27C>G (n.2971-27C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131232C>TCA3496204SPINK5c.2965-27C>T (n.2965-27C>T)
c.3055-27C>T (n.3055-27C>T)
c.2998-27C>T (n.2998-27C>T)
c.2971-27C>T (n.2971-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131233G>ACA3496205SPINK5c.2965-26G>A (n.2965-26G>A)
c.3055-26G>A (n.3055-26G>A)
c.2998-26G>A (n.2998-26G>A)
c.2971-26G>A (n.2971-26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131233G=CA1589902866SPINK5c.2965-26G= (n.2965-26G=)
c.3055-26G= (n.3055-26G=)
c.2998-26G= (n.2998-26G=)
c.2971-26G= (n.2971-26G=)
5g.148131234T>ACA2675859694SPINK5c.2965-25T>A (n.2965-25T>A)
c.3055-25T>A (n.3055-25T>A)
c.2998-25T>A (n.2998-25T>A)
c.2971-25T>A (n.2971-25T>A)
 gnomAD v4
5g.148131234T>CCA563526131SPINK5c.2965-25T>C (n.2965-25T>C)
c.3055-25T>C (n.3055-25T>C)
c.2998-25T>C (n.2998-25T>C)
c.2971-25T>C (n.2971-25T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.148131234T=CA1589902867SPINK5c.2965-25T= (n.2965-25T=)
c.3055-25T= (n.3055-25T=)
c.2998-25T= (n.2998-25T=)
c.2971-25T= (n.2971-25T=)
5g.148131234_148131235delinsTCCA1589902868SPINK5c.2965-25_2965-24delinsTC (n.2965-25_2965-24delinsTC)
c.3055-25_3055-24delinsTC (n.3055-25_3055-24delinsTC)
c.2998-25_2998-24delinsTC (n.2998-25_2998-24delinsTC)
c.2971-25_2971-24delinsTC (n.2971-25_2971-24delinsTC)
5g.148131235delCA563526132SPINK5c.2965-24del (n.2965-24del)
c.3055-24del (n.3055-24del)
c.2998-24del (n.2998-24del)
c.2971-24del (n.2971-24del)
 dbSNP gnomAD v2 gnomAD v4
5g.148131236T>ACA2768832276SPINK5c.2965-23T>A (n.2965-23T>A)
c.3055-23T>A (n.3055-23T>A)
c.2998-23T>A (n.2998-23T>A)
c.2971-23T>A (n.2971-23T>A)
5g.148131237delCA2675859698SPINK5c.2965-22del (n.2965-22del)
c.3055-22del (n.3055-22del)
c.2998-22del (n.2998-22del)
c.2971-22del (n.2971-22del)
 gnomAD v4
5g.148131237G>ACA3496206SPINK5c.2965-22G>A (n.2965-22G>A)
c.3055-22G>A (n.3055-22G>A)
c.2998-22G>A (n.2998-22G>A)
c.2971-22G>A (n.2971-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131237G>CCA3496207SPINK5c.2965-22G>C (n.2965-22G>C)
c.3055-22G>C (n.3055-22G>C)
c.2998-22G>C (n.2998-22G>C)
c.2971-22G>C (n.2971-22G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131237G=CA1589902869SPINK5c.2965-22G= (n.2965-22G=)
c.3055-22G= (n.3055-22G=)
c.2998-22G= (n.2998-22G=)
c.2971-22G= (n.2971-22G=)
5g.148131238C=CA1589902870SPINK5c.2965-21C= (n.2965-21C=)
c.3055-21C= (n.3055-21C=)
c.2998-21C= (n.2998-21C=)
c.2971-21C= (n.2971-21C=)
5g.148131238C>TCA3496208SPINK5c.2965-21C>T (n.2965-21C>T)
c.3055-21C>T (n.3055-21C>T)
c.2998-21C>T (n.2998-21C>T)
c.2971-21C>T (n.2971-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131240T>GCA1589902872SPINK5c.2965-19T>G (n.2965-19T>G)
c.3055-19T>G (n.3055-19T>G)
c.2998-19T>G (n.2998-19T>G)
c.2971-19T>G (n.2971-19T>G)
 dbSNP
5g.148131240T=CA1589902871SPINK5c.2965-19T= (n.2965-19T=)
c.3055-19T= (n.3055-19T=)
c.2998-19T= (n.2998-19T=)
c.2971-19T= (n.2971-19T=)
5g.148131241T>CCA3496209SPINK5c.2965-18T>C (n.2965-18T>C)
c.3055-18T>C (n.3055-18T>C)
c.2998-18T>C (n.2998-18T>C)
c.2971-18T>C (n.2971-18T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131241T=CA1589902873SPINK5c.2965-18T= (n.2965-18T=)
c.3055-18T= (n.3055-18T=)
c.2998-18T= (n.2998-18T=)
c.2971-18T= (n.2971-18T=)
5g.148131242A>GCA2768832280SPINK5c.2965-17A>G (n.2965-17A>G)
c.3055-17A>G (n.3055-17A>G)
c.2998-17A>G (n.2998-17A>G)
c.2971-17A>G (n.2971-17A>G)
5g.148131248dupCA2842333901SPINK5c.2965-11dup (n.2965-11dup)
c.3055-11dup (n.3055-11dup)
c.2998-11dup (n.2998-11dup)
c.2971-11dup (n.2971-11dup)
5g.148131244T>GCA2675859714SPINK5c.2965-15T>G (n.2965-15T>G)
c.3055-15T>G (n.3055-15T>G)
c.2998-15T>G (n.2998-15T>G)
c.2971-15T>G (n.2971-15T>G)
 gnomAD v4
5g.148131245T>GCA2675859715SPINK5c.2965-14T>G (n.2965-14T>G)
c.3055-14T>G (n.3055-14T>G)
c.2998-14T>G (n.2998-14T>G)
c.2971-14T>G (n.2971-14T>G)
 gnomAD v4
5g.148131246T>GCA1589902875SPINK5c.2965-13T>G (n.2965-13T>G)
c.3055-13T>G (n.3055-13T>G)
c.2998-13T>G (n.2998-13T>G)
c.2971-13T>G (n.2971-13T>G)
 dbSNP
5g.148131246T=CA1589902874SPINK5c.2965-13T= (n.2965-13T=)
c.3055-13T= (n.3055-13T=)
c.2998-13T= (n.2998-13T=)
c.2971-13T= (n.2971-13T=)
5g.148131247T>CCA2768832281SPINK5c.2965-12T>C (n.2965-12T>C)
c.3055-12T>C (n.3055-12T>C)
c.2998-12T>C (n.2998-12T>C)
c.2971-12T>C (n.2971-12T>C)
5g.148131248T>CCA563526189SPINK5c.2965-11T>C (n.2965-11T>C)
c.3055-11T>C (n.3055-11T>C)
c.2998-11T>C (n.2998-11T>C)
c.2971-11T>C (n.2971-11T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131248T=CA1589902876SPINK5c.2965-11T= (n.2965-11T=)
c.3055-11T= (n.3055-11T=)
c.2998-11T= (n.2998-11T=)
c.2971-11T= (n.2971-11T=)
5g.148131249G>CCA3496210SPINK5c.2965-10G>C (n.2965-10G>C)
c.3055-10G>C (n.3055-10G>C)
c.2998-10G>C (n.2998-10G>C)
c.2971-10G>C (n.2971-10G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131249G=CA1589902877SPINK5c.2965-10G= (n.2965-10G=)
c.3055-10G= (n.3055-10G=)
c.2998-10G= (n.2998-10G=)
c.2971-10G= (n.2971-10G=)
5g.148131249G>TCA2675859729SPINK5c.2965-10G>T (n.2965-10G>T)
c.3055-10G>T (n.3055-10G>T)
c.2998-10G>T (n.2998-10G>T)
c.2971-10G>T (n.2971-10G>T)
 gnomAD v4
5g.148131250C=CA1589902878SPINK5c.2965-9C= (n.2965-9C=)
c.3055-9C= (n.3055-9C=)
c.2998-9C= (n.2998-9C=)
c.2971-9C= (n.2971-9C=)
5g.148131250C>GCA3496211SPINK5c.2965-9C>G (n.2965-9C>G)
c.3055-9C>G (n.3055-9C>G)
c.2998-9C>G (n.2998-9C>G)
c.2971-9C>G (n.2971-9C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131251T>CCA2768832286SPINK5c.2965-8T>C (n.2965-8T>C)
c.3055-8T>C (n.3055-8T>C)
c.2998-8T>C (n.2998-8T>C)
c.2971-8T>C (n.2971-8T>C)
5g.148131254T>GCA2675859737SPINK5c.2965-5T>G (n.2965-5T>G)
c.3055-5T>G (n.3055-5T>G)
c.2998-5T>G (n.2998-5T>G)
c.2971-5T>G (n.2971-5T>G)
 gnomAD v4
5g.148131256C=CA1589902879SPINK5c.2965-3C= (n.2965-3C=)
c.3055-3C= (n.3055-3C=)
c.2998-3C= (n.2998-3C=)
c.2971-3C= (n.2971-3C=)
5g.148131256C>TCA563526192SPINK5c.2965-3C>T (n.2965-3C>T)
c.3055-3C>T (n.3055-3C>T)
c.2998-3C>T (n.2998-3C>T)
c.2971-3C>T (n.2971-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148131257A=CA1589902880SPINK5c.2965-2A= (n.2965-2A=)
c.3055-2A= (n.3055-2A=)
c.2998-2A= (n.2998-2A=)
c.2971-2A= (n.2971-2A=)
5g.148131257A>CCA361651833SPINK5c.2965-2A>C (n.2965-2A>C)
c.3055-2A>C (n.3055-2A>C)
c.2998-2A>C (n.2998-2A>C)
c.2971-2A>C (n.2971-2A>C)
5g.148131257A>GCA361651830SPINK5c.2965-2A>G (n.2965-2A>G)
c.3055-2A>G (n.3055-2A>G)
c.2998-2A>G (n.2998-2A>G)
c.2971-2A>G (n.2971-2A>G)
5g.148131257A>TCA361651831SPINK5c.2965-2A>T (n.2965-2A>T)
c.3055-2A>T (n.3055-2A>T)
c.2998-2A>T (n.2998-2A>T)
c.2971-2A>T (n.2971-2A>T)
 dbSNP
5g.148131258G>ACA3496212SPINK5c.2965-1G>A (n.2965-1G>A)
c.3055-1G>A (n.3055-1G>A)
c.2998-1G>A (n.2998-1G>A)
c.2971-1G>A (n.2971-1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131258G>CCA361651836SPINK5c.2965-1G>C (n.2965-1G>C)
c.3055-1G>C (n.3055-1G>C)
c.2998-1G>C (n.2998-1G>C)
c.2971-1G>C (n.2971-1G>C)
 gnomAD v4
5g.148131258G=CA1589902881SPINK5c.2965-1G= (n.2965-1G=)
c.3055-1G= (n.3055-1G=)
c.2998-1G= (n.2998-1G=)
c.2971-1G= (n.2971-1G=)
5g.148131258G>TCA361651837SPINK5c.2965-1G>T (n.2965-1G>T)
c.3055-1G>T (n.3055-1G>T)
c.2998-1G>T (n.2998-1G>T)
c.2971-1G>T (n.2971-1G>T)
5g.148131259G>ACA361651843SPINK5c.2965G>A (p.Asp989Asn)
c.3055G>A (p.Asp1019Asn)
c.2998G>A (p.Asp1000Asn)
c.2971G>A (p.Asp991Asn)
5g.148131259G>CCA361651851SPINK5c.2965G>C (p.Asp989His)
c.3055G>C (p.Asp1019His)
c.2998G>C (p.Asp1000His)
c.2971G>C (p.Asp991His)
5g.148131259G>TCA361651853SPINK5c.2965G>T (p.Asp989Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2998G>T (p.Asp1000Tyr)
c.2971G>T (p.Asp991Tyr)
5g.148131260A=CA1589902882SPINK5c.2966A= (p.Asp989=)
c.3056A= (p.Asp1019=)
c.2999A= (p.Asp1000=)
c.2972A= (p.Asp991=)
5g.148131260A>CCA128947143SPINK5c.2966A>C (p.Asp989Ala)
c.3056A>C (p.Asp1019Ala)
c.2999A>C (p.Asp1000Ala)
c.2972A>C (p.Asp991Ala)
 dbSNP gnomAD v4
5g.148131260A>GCA361651856SPINK5c.2966A>G (p.Asp989Gly)
c.3056A>G (p.Asp1019Gly)
c.2999A>G (p.Asp1000Gly)
c.2972A>G (p.Asp991Gly)
5g.148131260A>TCA361651859SPINK5c.2966A>T (p.Asp989Val)
c.3056A>T (p.Asp1019Val)
c.2999A>T (p.Asp1000Val)
c.2972A>T (p.Asp991Val)
5g.148131261T>ACA361651861SPINK5c.2967T>A (p.Asp989Glu)
c.3057T>A (p.Asp1019Glu)
c.3000T>A (p.Asp1000Glu)
c.2973T>A (p.Asp991Glu)
5g.148131261T>CCA446938260SPINK5c.2967T>C (p.Asp989=)
c.3057T>C (p.Asp1019=)
c.3000T>C (p.Asp1000=)
c.2973T>C (p.Asp991=)
5g.148131261T>GCA361651862SPINK5c.2967T>G (p.Asp989Glu)
c.3057T>G (p.Asp1019Glu)
c.3000T>G (p.Asp1000Glu)
c.2973T>G (p.Asp991Glu)
5g.148131261_148131263delinsTTCCA1589902883SPINK5c.2967_2969delinsTTC (p.Asp989=)
c.3057_3059delinsTTC (p.Asp1019=)
c.3000_3002delinsTTC (p.Asp1000=)
c.2973_2975delinsTTC (p.Asp991=)
5g.148131262T>ACA361651874SPINK5c.2968T>A (p.Ser990Thr)
c.3058T>A (p.Ser1020Thr)
c.3001T>A (p.Ser1001Thr)
c.2974T>A (p.Ser992Thr)
5g.148131262T>CCA361651872SPINK5c.2968T>C (p.Ser990Pro)
c.3058T>C (p.Ser1020Pro)
c.3001T>C (p.Ser1001Pro)
c.2974T>C (p.Ser992Pro)
5g.148131262T>GCA361651865SPINK5c.2968T>G (p.Ser990Ala)
c.3058T>G (p.Ser1020Ala)
c.3001T>G (p.Ser1001Ala)
c.2974T>G (p.Ser992Ala)
5g.148131263_148131264delCA1589902884SPINK5c.2969_2970del (p.Ser990Ter)
c.3059_3060del (p.Ser1020Ter)
c.3002_3003del (p.Ser1001Ter)
c.2975_2976del (p.Ser992Ter)
 dbSNP
5g.148131263C>ACA361651876SPINK5c.2969C>A (p.Ser990Tyr)
c.3059C>A (p.Ser1020Tyr)
c.3002C>A (p.Ser1001Tyr)
c.2975C>A (p.Ser992Tyr)
5g.148131263C>GCA361651878SPINK5c.2969C>G (p.Ser990Cys)
c.3059C>G (p.Ser1020Cys)
c.3002C>G (p.Ser1001Cys)
c.2975C>G (p.Ser992Cys)
5g.148131263C>TCA361651880SPINK5c.2969C>T (p.Ser990Phe)
c.3059C>T (p.Ser1020Phe)
c.3002C>T (p.Ser1001Phe)
c.2975C>T (p.Ser992Phe)
5g.148131264T>ACA446938261SPINK5c.2970T>A (p.Ser990=)
c.3060T>A (p.Ser1020=)
c.3003T>A (p.Ser1001=)
c.2976T>A (p.Ser992=)
5g.148131264T>CCA446938262SPINK5c.2970T>C (p.Ser990=)
c.3060T>C (p.Ser1020=)
c.3003T>C (p.Ser1001=)
c.2976T>C (p.Ser992=)
 dbSNP
5g.148131264T>GCA446938263SPINK5c.2970T>G (p.Ser990=)
c.3060T>G (p.Ser1020=)
c.3003T>G (p.Ser1001=)
c.2976T>G (p.Ser992=)
5g.148131264T=CA1589902885SPINK5c.2970T= (p.Ser990=)
c.3060T= (p.Ser1020=)
c.3003T= (p.Ser1001=)
c.2976T= (p.Ser992=)
5g.148131265G>ACA361651882SPINK5c.2971G>A (p.Glu991Lys)
c.3061G>A (p.Glu1021Lys)
c.3004G>A (p.Glu1002Lys)
c.2977G>A (p.Glu993Lys)
 gnomAD v4
5g.148131265G>CCA361651883SPINK5c.2971G>C (p.Glu991Gln)
c.3061G>C (p.Glu1021Gln)
c.3004G>C (p.Glu1002Gln)
c.2977G>C (p.Glu993Gln)
5g.148131265G>TCA361651884SPINK5c.2971G>T (p.Glu991Ter)
c.3061G>T (p.Glu1021Ter)
c.3004G>T (p.Glu1002Ter)
c.2977G>T (p.Glu993Ter)
5g.148131266A>CCA361651887SPINK5c.2972A>C (p.Glu991Ala)
c.3062A>C (p.Glu1021Ala)
c.3005A>C (p.Glu1002Ala)
c.2978A>C (p.Glu993Ala)
5g.148131266A>GCA361651888SPINK5c.2972A>G (p.Glu991Gly)
c.3062A>G (p.Glu1021Gly)
c.3005A>G (p.Glu1002Gly)
c.2978A>G (p.Glu993Gly)
 gnomAD v4
5g.148131266A>TCA361651890SPINK5c.2972A>T (p.Glu991Val)
c.3062A>T (p.Glu1021Val)
c.3005A>T (p.Glu1002Val)
c.2978A>T (p.Glu993Val)
5g.148131267G>ACA446938264SPINK5c.2973G>A (p.Glu991=)
c.3063G>A (p.Glu1021=)
c.3006G>A (p.Glu1002=)
c.2979G>A (p.Glu993=)
5g.148131267G>CCA361651891SPINK5c.2973G>C (p.Glu991Asp)
c.3063G>C (p.Glu1021Asp)
c.3006G>C (p.Glu1002Asp)
c.2979G>C (p.Glu993Asp)
5g.148131267G>TCA361651893SPINK5c.2973G>T (p.Glu991Asp)
c.3063G>T (p.Glu1021Asp)
c.3006G>T (p.Glu1002Asp)
c.2979G>T (p.Glu993Asp)
5g.148131268A=CA1589902886SPINK5c.2974A= (p.Met992=)
c.3064A= (p.Met1022=)
c.3007A= (p.Met1003=)
c.2980A= (p.Met994=)
5g.148131268A>CCA361651895SPINK5c.2974A>C (p.Met992Leu)
c.3064A>C (p.Met1022Leu)
c.3007A>C (p.Met1003Leu)
c.2980A>C (p.Met994Leu)
5g.148131268A>GCA361651896SPINK5c.2974A>G (p.Met992Val)
c.3064A>G (p.Met1022Val)
c.3007A>G (p.Met1003Val)
c.2980A>G (p.Met994Val)
5g.148131268A>TCA361651898SPINK5c.2974A>T (p.Met992Leu)
c.3064A>T (p.Met1022Leu)
c.3007A>T (p.Met1003Leu)
c.2980A>T (p.Met994Leu)
 ClinVar dbSNP gnomAD v4
5g.148131269T>ACA361651902SPINK5c.2975T>A (p.Met992Lys)
c.3065T>A (p.Met1022Lys)
c.3008T>A (p.Met1003Lys)
c.2981T>A (p.Met994Lys)
5g.148131269T>CCA3496213SPINK5c.2975T>C (p.Met992Thr)
c.3065T>C (p.Met1022Thr)
c.3008T>C (p.Met1003Thr)
c.2981T>C (p.Met994Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131269T>GCA361651900SPINK5c.2975T>G (p.Met992Arg)
c.3065T>G (p.Met1022Arg)
c.3008T>G (p.Met1003Arg)
c.2981T>G (p.Met994Arg)
5g.148131269T=CA1589902887SPINK5c.2975T= (p.Met992=)
c.3065T= (p.Met1022=)
c.3008T= (p.Met1003=)
c.2981T= (p.Met994=)
5g.148131270G>ACA361651905SPINK5c.2976G>A (p.Met992Ile)
c.3066G>A (p.Met1022Ile)
c.3009G>A (p.Met1003Ile)
c.2982G>A (p.Met994Ile)
 gnomAD v4
5g.148131270G>CCA361651906SPINK5c.2976G>C (p.Met992Ile)
c.3066G>C (p.Met1022Ile)
c.3009G>C (p.Met1003Ile)
c.2982G>C (p.Met994Ile)
5g.148131270G>TCA361651911SPINK5c.2976G>T (p.Met992Ile)
c.3066G>T (p.Met1022Ile)
c.3009G>T (p.Met1003Ile)
c.2982G>T (p.Met994Ile)
5g.148131271T>ACA361651914SPINK5c.2977T>A (p.Cys993Ser)
c.3067T>A (p.Cys1023Ser)
c.3010T>A (p.Cys1004Ser)
c.2983T>A (p.Cys995Ser)
5g.148131271T>CCA361651915SPINK5c.2977T>C (p.Cys993Arg)
c.3067T>C (p.Cys1023Arg)
c.3010T>C (p.Cys1004Arg)
c.2983T>C (p.Cys995Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
5g.148131271T>GCA361651920SPINK5c.2977T>G (p.Cys993Gly)
c.3067T>G (p.Cys1023Gly)
c.3010T>G (p.Cys1004Gly)
c.2983T>G (p.Cys995Gly)
5g.148131271T=CA1589902888SPINK5c.2977T= (p.Cys993=)
c.3067T= (p.Cys1023=)
c.3010T= (p.Cys1004=)
c.2983T= (p.Cys995=)
5g.148131272G>ACA361651922SPINK5c.2978G>A (p.Cys993Tyr)
c.3068G>A (p.Cys1023Tyr)
c.3011G>A (p.Cys1004Tyr)
c.2984G>A (p.Cys995Tyr)
5g.148131272G>CCA361651923SPINK5c.2978G>C (p.Cys993Ser)
c.3068G>C (p.Cys1023Ser)
c.3011G>C (p.Cys1004Ser)
c.2984G>C (p.Cys995Ser)
5g.148131272G>TCA361651925SPINK5c.2978G>T (p.Cys993Phe)
c.3068G>T (p.Cys1023Phe)
c.3011G>T (p.Cys1004Phe)
c.2984G>T (p.Cys995Phe)
5g.148131273C>ACA361651928SPINK5c.2979C>A (p.Cys993Ter)
c.3069C>A (p.Cys1023Ter)
c.3012C>A (p.Cys1004Ter)
c.2985C>A (p.Cys995Ter)
5g.148131273C>GCA361651930SPINK5c.2979C>G (p.Cys993Trp)
c.3069C>G (p.Cys1023Trp)
c.3012C>G (p.Cys1004Trp)
c.2985C>G (p.Cys995Trp)
5g.148131273C>TCA446938265SPINK5c.2979C>T (p.Cys993=)
c.3069C>T (p.Cys1023=)
c.3012C>T (p.Cys1004=)
c.2985C>T (p.Cys995=)
5g.148131274A>CCA361651934SPINK5c.2980A>C (p.Lys994Gln)
c.3070A>C (p.Lys1024Gln)
c.3013A>C (p.Lys1005Gln)
c.2986A>C (p.Lys996Gln)
5g.148131274A>GCA361651933SPINK5c.2980A>G (p.Lys994Glu)
c.3070A>G (p.Lys1024Glu)
c.3013A>G (p.Lys1005Glu)
c.2986A>G (p.Lys996Glu)
5g.148131274A>TCA361651932SPINK5c.2980A>T (p.Lys994Ter)
c.3070A>T (p.Lys1024Ter)
c.3013A>T (p.Lys1005Ter)
c.2986A>T (p.Lys996Ter)
5g.148131275A>CCA361651937SPINK5c.2981A>C (p.Lys994Thr)
c.3071A>C (p.Lys1024Thr)
c.3014A>C (p.Lys1005Thr)
c.2987A>C (p.Lys996Thr)
5g.148131275A>GCA361651938SPINK5c.2981A>G (p.Lys994Arg)
c.3071A>G (p.Lys1024Arg)
c.3014A>G (p.Lys1005Arg)
c.2987A>G (p.Lys996Arg)
 COSMIC COSMIC
5g.148131275A>TCA361651940SPINK5c.2981A>T (p.Lys994Ile)
c.3071A>T (p.Lys1024Ile)
c.3014A>T (p.Lys1005Ile)
c.2987A>T (p.Lys996Ile)
5g.148131276A>CCA361651943SPINK5c.2982A>C (p.Lys994Asn)
c.3072A>C (p.Lys1024Asn)
c.3015A>C (p.Lys1005Asn)
c.2988A>C (p.Lys996Asn)
5g.148131276A>GCA446938266SPINK5c.2982A>G (p.Lys994=)
c.3072A>G (p.Lys1024=)
c.3015A>G (p.Lys1005=)
c.2988A>G (p.Lys996=)
5g.148131276A>TCA361651945SPINK5c.2982A>T (p.Lys994Asn)
c.3072A>T (p.Lys1024Asn)
c.3015A>T (p.Lys1005Asn)
c.2988A>T (p.Lys996Asn)
5g.148131277G>ACA361651948SPINK5c.2983G>A (p.Asp995Asn)
c.3073G>A (p.Asp1025Asn)
c.3016G>A (p.Asp1006Asn)
c.2989G>A (p.Asp997Asn)
 gnomAD v4
5g.148131277G>CCA361651950SPINK5c.2983G>C (p.Asp995His)
c.3073G>C (p.Asp1025His)
c.3016G>C (p.Asp1006His)
c.2989G>C (p.Asp997His)
 COSMIC COSMIC
5g.148131277G>TCA361651951SPINK5c.2983G>T (p.Asp995Tyr)
c.3073G>T (p.Asp1025Tyr)
c.3016G>T (p.Asp1006Tyr)
c.2989G>T (p.Asp997Tyr)
 gnomAD v4
5g.148131278A>CCA361651953SPINK5c.2984A>C (p.Asp995Ala)
c.3074A>C (p.Asp1025Ala)
c.3017A>C (p.Asp1006Ala)
c.2990A>C (p.Asp997Ala)
5g.148131278A>GCA361651954SPINK5c.2984A>G (p.Asp995Gly)
c.3074A>G (p.Asp1025Gly)
c.3017A>G (p.Asp1006Gly)
c.2990A>G (p.Asp997Gly)
 dbSNP
5g.148131278A>TCA361651956SPINK5c.2984A>T (p.Asp995Val)
c.3074A>T (p.Asp1025Val)
c.3017A>T (p.Asp1006Val)
c.2990A>T (p.Asp997Val)
5g.148131279C>ACA361651957SPINK5c.2985C>A (p.Asp995Glu)
c.3075C>A (p.Asp1025Glu)
c.3018C>A (p.Asp1006Glu)
c.2991C>A (p.Asp997Glu)
 gnomAD v4
5g.148131279C>GCA361651959SPINK5c.2985C>G (p.Asp995Glu)
c.3075C>G (p.Asp1025Glu)
c.3018C>G (p.Asp1006Glu)
c.2991C>G (p.Asp997Glu)
 gnomAD v4
5g.148131279C>TCA446938267SPINK5c.2985C>T (p.Asp995=)
c.3075C>T (p.Asp1025=)
c.3018C>T (p.Asp1006=)
c.2991C>T (p.Asp997=)
5g.148131280T>ACA361651965SPINK5c.2986T>A (p.Tyr996Asn)
c.3076T>A (p.Tyr1026Asn)
c.3019T>A (p.Tyr1007Asn)
c.2992T>A (p.Tyr998Asn)
5g.148131280T>CCA361651963SPINK5c.2986T>C (p.Tyr996His)
c.3076T>C (p.Tyr1026His)
c.3019T>C (p.Tyr1007His)
c.2992T>C (p.Tyr998His)
5g.148131280T>GCA361651961SPINK5c.2986T>G (p.Tyr996Asp)
c.3076T>G (p.Tyr1026Asp)
c.3019T>G (p.Tyr1007Asp)
c.2992T>G (p.Tyr998Asp)
5g.148131281A>CCA361651968SPINK5c.2987A>C (p.Tyr996Ser)
c.3077A>C (p.Tyr1026Ser)
c.3020A>C (p.Tyr1007Ser)
c.2993A>C (p.Tyr998Ser)
5g.148131281A>GCA361651966SPINK5c.2987A>G (p.Tyr996Cys)
c.3077A>G (p.Tyr1026Cys)
c.3020A>G (p.Tyr1007Cys)
c.2993A>G (p.Tyr998Cys)
 gnomAD v4
5g.148131281A>TCA361651970SPINK5c.2987A>T (p.Tyr996Phe)
c.3077A>T (p.Tyr1026Phe)
c.3020A>T (p.Tyr1007Phe)
c.2993A>T (p.Tyr998Phe)
5g.148131282C>ACA361651972SPINK5c.2988C>A (p.Tyr996Ter)
c.3078C>A (p.Tyr1026Ter)
c.3021C>A (p.Tyr1007Ter)
c.2994C>A (p.Tyr998Ter)
 dbSNP gnomAD v2 gnomAD v4
5g.148131282C=CA1589902889SPINK5c.2988C= (p.Tyr996=)
c.3078C= (p.Tyr1026=)
c.3021C= (p.Tyr1007=)
c.2994C= (p.Tyr998=)
5g.148131282C>GCA361651974SPINK5c.2988C>G (p.Tyr996Ter)
c.3078C>G (p.Tyr1026Ter)
c.3021C>G (p.Tyr1007Ter)
c.2994C>G (p.Tyr998Ter)
5g.148131282C>TCA446938268SPINK5c.2988C>T (p.Tyr996=)
c.3078C>T (p.Tyr1026=)
c.3021C>T (p.Tyr1007=)
c.2994C>T (p.Tyr998=)
5g.148131283C>ACA3496214SPINK5c.2989C>A (p.Arg997=)
c.3079C>A (p.Arg1027=)
c.3022C>A (p.Arg1008=)
c.2995C>A (p.Arg999=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131283C=CA1589902890SPINK5c.2989C= (p.Arg997=)
c.3079C= (p.Arg1027=)
c.3022C= (p.Arg1008=)
c.2995C= (p.Arg999=)
5g.148131283C>GCA361651977SPINK5c.2989C>G (p.Arg997Gly)
c.3079C>G (p.Arg1027Gly)
c.3022C>G (p.Arg1008Gly)
c.2995C>G (p.Arg999Gly)
 dbSNP gnomAD v4
5g.148131283C>TCA3496215SPINK5c.2989C>T (p.Arg997Ter)
c.3079C>T (p.Arg1027Ter)
c.3022C>T (p.Arg1008Ter)
c.2995C>T (p.Arg999Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148131284G>ACA3496216SPINK5c.2990G>A (p.Arg997Gln)
c.3080G>A (p.Arg1027Gln)
c.3023G>A (p.Arg1008Gln)
c.2996G>A (p.Arg999Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131284G>CCA361651981SPINK5c.2990G>C (p.Arg997Pro)
c.3080G>C (p.Arg1027Pro)
c.3023G>C (p.Arg1008Pro)
c.2996G>C (p.Arg999Pro)
5g.148131284G=CA1589902891SPINK5c.2990G= (p.Arg997=)
c.3080G= (p.Arg1027=)
c.3023G= (p.Arg1008=)
c.2996G= (p.Arg999=)
5g.148131284G>TCA361651983SPINK5c.2990G>T (p.Arg997Leu)
c.3080G>T (p.Arg1027Leu)
c.3023G>T (p.Arg1008Leu)
c.2996G>T (p.Arg999Leu)
5g.148131285A=CA1589902892SPINK5c.2991A= (p.Arg997=)
c.3081A= (p.Arg1027=)
c.3024A= (p.Arg1008=)
c.2997A= (p.Arg999=)
5g.148131285A>CCA446938269SPINK5c.2991A>C (p.Arg997=)
c.3081A>C (p.Arg1027=)
c.3024A>C (p.Arg1008=)
c.2997A>C (p.Arg999=)
 dbSNP
5g.148131285A>GCA446938270SPINK5c.2991A>G (p.Arg997=)
c.3081A>G (p.Arg1027=)
c.3024A>G (p.Arg1008=)
c.2997A>G (p.Arg999=)
 ClinVar dbSNP
5g.148131285A>TCA446938271SPINK5c.2991A>T (p.Arg997=)
c.3081A>T (p.Arg1027=)
c.3024A>T (p.Arg1008=)
c.2997A>T (p.Arg999=)
5g.148131286G>ACA361651984SPINK5c.2992G>A (p.Val998Ile)
c.3082G>A (p.Val1028Ile)
c.3025G>A (p.Val1009Ile)
c.2998G>A (p.Val1000Ile)
5g.148131286G>CCA361651986SPINK5c.2992G>C (p.Val998Leu)
c.3082G>C (p.Val1028Leu)
c.3025G>C (p.Val1009Leu)
c.2998G>C (p.Val1000Leu)
5g.148131286G>TCA361651988SPINK5c.2992G>T (p.Val998Leu)
c.3082G>T (p.Val1028Leu)
c.3025G>T (p.Val1009Leu)
c.2998G>T (p.Val1000Leu)
5g.148131287T>ACA361651990SPINK5c.2993T>A (p.Val998Glu)
c.3083T>A (p.Val1028Glu)
c.3026T>A (p.Val1009Glu)
c.2999T>A (p.Val1000Glu)
 ClinVar dbSNP
5g.148131287T>CCA361651991SPINK5c.2993T>C (p.Val998Ala)
c.3083T>C (p.Val1028Ala)
c.3026T>C (p.Val1009Ala)
c.2999T>C (p.Val1000Ala)
 dbSNP
5g.148131287T>GCA361651992SPINK5c.2993T>G (p.Val998Gly)
c.3083T>G (p.Val1028Gly)
c.3026T>G (p.Val1009Gly)
c.2999T>G (p.Val1000Gly)
5g.148131287T=CA1589902893SPINK5c.2993T= (p.Val998=)
c.3083T= (p.Val1028=)
c.3026T= (p.Val1009=)
c.2999T= (p.Val1000=)
5g.148131287_148131288insCCA2675859800SPINK5c.2993_2994insC (p.Leu999IlefsTer18)
c.3083_3084insC (p.Leu1029IlefsTer18)
c.3026_3027insC (p.Leu1010IlefsTer18)
c.2999_3000insC (p.Leu1001IlefsTer18)
 gnomAD v4
5g.148131288A>CCA446938272SPINK5c.2994A>C (p.Val998=)
c.3084A>C (p.Val1028=)
c.3027A>C (p.Val1009=)
c.3000A>C (p.Val1000=)
5g.148131288A>GCA446938273SPINK5c.2994A>G (p.Val998=)
c.3084A>G (p.Val1028=)
c.3027A>G (p.Val1009=)
c.3000A>G (p.Val1000=)
5g.148131288A>TCA446938274SPINK5c.2994A>T (p.Val998=)
c.3084A>T (p.Val1028=)
c.3027A>T (p.Val1009=)
c.3000A>T (p.Val1000=)
 gnomAD v4
5g.148131289T>ACA361651995SPINK5c.2995T>A (p.Leu999Met)
c.3085T>A (p.Leu1029Met)
c.3028T>A (p.Leu1010Met)
c.3001T>A (p.Leu1001Met)
5g.148131289T>CCA446938275SPINK5c.2995T>C (p.Leu999=)
c.3085T>C (p.Leu1029=)
c.3028T>C (p.Leu1010=)
c.3001T>C (p.Leu1001=)
5g.148131289T>GCA361652000SPINK5c.2995T>G (p.Leu999Val)
c.3085T>G (p.Leu1029Val)
c.3028T>G (p.Leu1010Val)
c.3001T>G (p.Leu1001Val)
5g.148131290T>ACA361652003SPINK5c.2996T>A (p.Leu999Ter)
c.3086T>A (p.Leu1029Ter)
c.3029T>A (p.Leu1010Ter)
c.3002T>A (p.Leu1001Ter)
5g.148131290T>CCA361652005SPINK5c.2996T>C (p.Leu999Ser)
c.3086T>C (p.Leu1029Ser)
c.3029T>C (p.Leu1010Ser)
c.3002T>C (p.Leu1001Ser)
5g.148131290T>GCA3496217SPINK5c.2996T>G (p.Leu999Trp)
c.3086T>G (p.Leu1029Trp)
c.3029T>G (p.Leu1010Trp)
c.3002T>G (p.Leu1001Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131290T=CA1589902894SPINK5c.2996T= (p.Leu999=)
c.3086T= (p.Leu1029=)
c.3029T= (p.Leu1010=)
c.3002T= (p.Leu1001=)
5g.148131291G>ACA446938276SPINK5c.2997G>A (p.Leu999=)
c.3087G>A (p.Leu1029=)
c.3030G>A (p.Leu1010=)
c.3003G>A (p.Leu1001=)
 dbSNP gnomAD v4
5g.148131291G>CCA361652007SPINK5c.2997G>C (p.Leu999Phe)
c.3087G>C (p.Leu1029Phe)
c.3030G>C (p.Leu1010Phe)
c.3003G>C (p.Leu1001Phe)
5g.148131291G=CA1589902895SPINK5c.2997G= (p.Leu999=)
c.3087G= (p.Leu1029=)
c.3030G= (p.Leu1010=)
c.3003G= (p.Leu1001=)
5g.148131291G>TCA361652008SPINK5c.2997G>T (p.Leu999Phe)
c.3087G>T (p.Leu1029Phe)
c.3030G>T (p.Leu1010Phe)
c.3003G>T (p.Leu1001Phe)
5g.148131292C>ACA361652011SPINK5c.2998C>A (p.Pro1000Thr)
c.3088C>A (p.Pro1030Thr)
c.3031C>A (p.Pro1011Thr)
c.3004C>A (p.Pro1002Thr)
5g.148131292C=CA1589902896SPINK5c.2998C= (p.Pro1000=)
c.3088C= (p.Pro1030=)
c.3031C= (p.Pro1011=)
c.3004C= (p.Pro1002=)
5g.148131292C>GCA361652013SPINK5c.2998C>G (p.Pro1000Ala)
c.3088C>G (p.Pro1030Ala)
c.3031C>G (p.Pro1011Ala)
c.3004C>G (p.Pro1002Ala)
5g.148131292C>TCA361652014SPINK5c.2998C>T (p.Pro1000Ser)
c.3088C>T (p.Pro1030Ser)
c.3031C>T (p.Pro1011Ser)
c.3004C>T (p.Pro1002Ser)
 ClinVar dbSNP
5g.148131293C>ACA361652016SPINK5c.2999C>A (p.Pro1000His)
c.3089C>A (p.Pro1030His)
c.3032C>A (p.Pro1011His)
c.3005C>A (p.Pro1002His)
5g.148131293C=CA1589902897SPINK5c.2999C= (p.Pro1000=)
c.3089C= (p.Pro1030=)
c.3032C= (p.Pro1011=)
c.3005C= (p.Pro1002=)
5g.148131293C>GCA361652018SPINK5c.2999C>G (p.Pro1000Arg)
c.3089C>G (p.Pro1030Arg)
c.3032C>G (p.Pro1011Arg)
c.3005C>G (p.Pro1002Arg)
5g.148131293C>TCA361652020SPINK5c.2999C>T (p.Pro1000Leu)
c.3089C>T (p.Pro1030Leu)
c.3032C>T (p.Pro1011Leu)
c.3005C>T (p.Pro1002Leu)
 dbSNP gnomAD v3 gnomAD v4
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.148131294C>ACA446938278SPINK5c.3000C>A (p.Pro1000=)
c.3090C>A (p.Pro1030=)
c.3033C>A (p.Pro1011=)
c.3006C>A (p.Pro1002=)
5g.148131294C>GCA446938279SPINK5c.3000C>G (p.Pro1000=)
c.3090C>G (p.Pro1030=)
c.3033C>G (p.Pro1011=)
c.3006C>G (p.Pro1002=)
 gnomAD v4
5g.148131294C>TCA446938277SPINK5c.3000C>T (p.Pro1000=)
c.3090C>T (p.Pro1030=)
c.3033C>T (p.Pro1011=)
c.3006C>T (p.Pro1002=)
5g.148131295A>CCA446938280SPINK5c.3001A>C (p.Arg1001=)
c.3091A>C (p.Arg1031=)
c.3034A>C (p.Arg1012=)
c.3007A>C (p.Arg1003=)
5g.148131295A>GCA361652021SPINK5c.3001A>G (p.Arg1001Gly)
c.3091A>G (p.Arg1031Gly)
c.3034A>G (p.Arg1012Gly)
c.3007A>G (p.Arg1003Gly)
5g.148131295A>TCA361652023SPINK5c.3001A>T (p.Arg1001Trp)
c.3091A>T (p.Arg1031Trp)
c.3034A>T (p.Arg1012Trp)
c.3007A>T (p.Arg1003Trp)
5g.148131296G>ACA128947162SPINK5c.3002G>A (p.Arg1001Lys)
c.3092G>A (p.Arg1031Lys)
c.3035G>A (p.Arg1012Lys)
c.3008G>A (p.Arg1003Lys)
 dbSNP COSMIC COSMIC
5g.148131296G>CCA3496218SPINK5c.3002G>C (p.Arg1001Thr)
c.3092G>C (p.Arg1031Thr)
c.3035G>C (p.Arg1012Thr)
c.3008G>C (p.Arg1003Thr)
 dbSNP ExAC
5g.148131296G=CA1589902898SPINK5c.3002G= (p.Arg1001=)
c.3092G= (p.Arg1031=)
c.3035G= (p.Arg1012=)
c.3008G= (p.Arg1003=)
5g.148131296G>TCA361652027SPINK5c.3002G>T (p.Arg1001Met)
c.3092G>T (p.Arg1031Met)
c.3035G>T (p.Arg1012Met)
c.3008G>T (p.Arg1003Met)
5g.148131297G>ACA446938281SPINK5c.3003G>A (p.Arg1001=)
c.3093G>A (p.Arg1031=)
c.3036G>A (p.Arg1012=)
c.3009G>A (p.Arg1003=)
 COSMIC COSMIC
5g.148131297G>CCA3496219SPINK5c.3003G>C (p.Arg1001Ser)
c.3093G>C (p.Arg1031Ser)
c.3036G>C (p.Arg1012Ser)
c.3009G>C (p.Arg1003Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131297G=CA1589902899SPINK5c.3003G= (p.Arg1001=)
c.3093G= (p.Arg1031=)
c.3036G= (p.Arg1012=)
c.3009G= (p.Arg1003=)
5g.148131297G>TCA361652031SPINK5c.3003G>T (p.Arg1001Ser)
c.3093G>T (p.Arg1031Ser)
c.3036G>T (p.Arg1012Ser)
c.3009G>T (p.Arg1003Ser)
5g.148131298A>CCA361652033SPINK5c.3004A>C (p.Ile1002Leu)
c.3094A>C (p.Ile1032Leu)
c.3037A>C (p.Ile1013Leu)
c.3010A>C (p.Ile1004Leu)
5g.148131298A>GCA361652035SPINK5c.3004A>G (p.Ile1002Val)
c.3094A>G (p.Ile1032Val)
c.3037A>G (p.Ile1013Val)
c.3010A>G (p.Ile1004Val)
5g.148131298A>TCA361652037SPINK5c.3004A>T (p.Ile1002Leu)
c.3094A>T (p.Ile1032Leu)
c.3037A>T (p.Ile1013Leu)
c.3010A>T (p.Ile1004Leu)
5g.148131299T>ACA361652039SPINK5c.3005T>A (p.Ile1002Lys)
c.3095T>A (p.Ile1032Lys)
c.3038T>A (p.Ile1013Lys)
c.3011T>A (p.Ile1004Lys)
5g.148131299T>CCA361652041SPINK5c.3005T>C (p.Ile1002Thr)
c.3095T>C (p.Ile1032Thr)
c.3038T>C (p.Ile1013Thr)
c.3011T>C (p.Ile1004Thr)
 dbSNP
5g.148131299T>GCA361652042SPINK5c.3005T>G (p.Ile1002Arg)
c.3095T>G (p.Ile1032Arg)
c.3038T>G (p.Ile1013Arg)
c.3011T>G (p.Ile1004Arg)
5g.148131299T=CA1589902900SPINK5c.3005T= (p.Ile1002=)
c.3095T= (p.Ile1032=)
c.3038T= (p.Ile1013=)
c.3011T= (p.Ile1004=)
5g.148131300A>CCA446938282SPINK5c.3006A>C (p.Ile1002=)
c.3096A>C (p.Ile1032=)
c.3039A>C (p.Ile1013=)
c.3012A>C (p.Ile1004=)
5g.148131300A>GCA361652045SPINK5c.3006A>G (p.Ile1002Met)
c.3096A>G (p.Ile1032Met)
c.3039A>G (p.Ile1013Met)
c.3012A>G (p.Ile1004Met)
5g.148131300A>TCA446938283SPINK5c.3006A>T (p.Ile1002=)
c.3096A>T (p.Ile1032=)
c.3039A>T (p.Ile1013=)
c.3012A>T (p.Ile1004=)
5g.148131301G>ACA361652047SPINK5c.3007G>A (p.Gly1003Ser)
c.3097G>A (p.Gly1033Ser)
c.3040G>A (p.Gly1014Ser)
c.3013G>A (p.Gly1005Ser)
5g.148131301G>CCA361652048SPINK5c.3007G>C (p.Gly1003Arg)
c.3097G>C (p.Gly1033Arg)
c.3040G>C (p.Gly1014Arg)
c.3013G>C (p.Gly1005Arg)
 dbSNP
5g.148131301G=CA1589902901SPINK5c.3007G= (p.Gly1003=)
c.3097G= (p.Gly1033=)
c.3040G= (p.Gly1014=)
c.3013G= (p.Gly1005=)
5g.148131301G>TCA361652050SPINK5c.3007G>T (p.Gly1003Cys)
c.3097G>T (p.Gly1033Cys)
c.3040G>T (p.Gly1014Cys)
c.3013G>T (p.Gly1005Cys)
5g.148131302G>ACA3496220SPINK5c.3008G>A (p.Gly1003Asp)
c.3098G>A (p.Gly1033Asp)
c.3041G>A (p.Gly1014Asp)
c.3014G>A (p.Gly1005Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148131302G>CCA361652054SPINK5c.3008G>C (p.Gly1003Ala)
c.3098G>C (p.Gly1033Ala)
c.3041G>C (p.Gly1014Ala)
c.3014G>C (p.Gly1005Ala)
 gnomAD v4
5g.148131302G=CA1589902902SPINK5c.3008G= (p.Gly1003=)
c.3098G= (p.Gly1033=)
c.3041G= (p.Gly1014=)
c.3014G= (p.Gly1005=)
5g.148131302G>TCA361652052SPINK5c.3008G>T (p.Gly1003Val)
c.3098G>T (p.Gly1033Val)
c.3041G>T (p.Gly1014Val)
c.3014G>T (p.Gly1005Val)
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=)

Number of alleles fetched