Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.148125654C>ACA128941260SPINK5c.2740-69C>A (n.2740-69C>A)
c.2829+41C>A (n.2829+41C>A)
c.2772+41C>A (n.2772+41C>A)
c.2745+41C>A (n.2745+41C>A)
 dbSNP gnomAD v4
5g.148125654C=CA1589900492SPINK5c.2740-69C= (n.2740-69C=)
c.2829+41C= (n.2829+41C=)
c.2772+41C= (n.2772+41C=)
c.2745+41C= (n.2745+41C=)
5g.148125654C>GCA2675859314SPINK5c.2740-69C>G (n.2740-69C>G)
c.2829+41C>G (n.2829+41C>G)
c.2772+41C>G (n.2772+41C>G)
c.2745+41C>G (n.2745+41C>G)
 gnomAD v4
5g.148125654C>TCA1589900493SPINK5c.2740-69C>T (n.2740-69C>T)
c.2829+41C>T (n.2829+41C>T)
c.2772+41C>T (n.2772+41C>T)
c.2745+41C>T (n.2745+41C>T)
 dbSNP
5g.148125655_148125709delCA2768831876SPINK5c.2740-68_2740-14del (n.2740-68_2740-14del)
c.2829+42_2830-14del (n.2829+42_2830-14del)
c.2772+42_2773-14del (n.2772+42_2773-14del)
c.2745+42_2746-14del (n.2745+42_2746-14del)
5g.148125656A=CA1589900494SPINK5c.2740-67A= (n.2740-67A=)
c.2829+43A= (n.2829+43A=)
c.2772+43A= (n.2772+43A=)
c.2745+43A= (n.2745+43A=)
5g.148125656A>GCA2675859315SPINK5c.2740-67A>G (n.2740-67A>G)
c.2829+43A>G (n.2829+43A>G)
c.2772+43A>G (n.2772+43A>G)
c.2745+43A>G (n.2745+43A>G)
 gnomAD v4
5g.148125656A>TCA1589900495SPINK5c.2740-67A>T (n.2740-67A>T)
c.2829+43A>T (n.2829+43A>T)
c.2772+43A>T (n.2772+43A>T)
c.2745+43A>T (n.2745+43A>T)
 dbSNP
5g.148125657G>ACA128941267SPINK5c.2740-66G>A (n.2740-66G>A)
c.2829+44G>A (n.2829+44G>A)
c.2772+44G>A (n.2772+44G>A)
c.2745+44G>A (n.2745+44G>A)
 dbSNP gnomAD v4
5g.148125657G=CA1589900496SPINK5c.2740-66G= (n.2740-66G=)
c.2829+44G= (n.2829+44G=)
c.2772+44G= (n.2772+44G=)
c.2745+44G= (n.2745+44G=)
5g.148125659T>CCA1589900498SPINK5c.2740-64T>C (n.2740-64T>C)
c.2829+46T>C (n.2829+46T>C)
c.2772+46T>C (n.2772+46T>C)
c.2745+46T>C (n.2745+46T>C)
 dbSNP gnomAD v4
5g.148125659T>GCA2675859316SPINK5c.2740-64T>G (n.2740-64T>G)
c.2829+46T>G (n.2829+46T>G)
c.2772+46T>G (n.2772+46T>G)
c.2745+46T>G (n.2745+46T>G)
 gnomAD v4
5g.148125659T=CA1589900497SPINK5c.2740-64T= (n.2740-64T=)
c.2829+46T= (n.2829+46T=)
c.2772+46T= (n.2772+46T=)
c.2745+46T= (n.2745+46T=)
5g.148125661delCA2675859317SPINK5c.2740-62del (n.2740-62del)
c.2829+48del (n.2829+48del)
c.2772+48del (n.2772+48del)
c.2745+48del (n.2745+48del)
 gnomAD v4
5g.148125661G>ACA3496125SPINK5c.2740-62G>A (n.2740-62G>A)
c.2829+48G>A (n.2829+48G>A)
c.2772+48G>A (n.2772+48G>A)
c.2745+48G>A (n.2745+48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125661G=CA1589900499SPINK5c.2740-62G= (n.2740-62G=)
c.2829+48G= (n.2829+48G=)
c.2772+48G= (n.2772+48G=)
c.2745+48G= (n.2745+48G=)
5g.148125661G>TCA1589900500SPINK5c.2740-62G>T (n.2740-62G>T)
c.2829+48G>T (n.2829+48G>T)
c.2772+48G>T (n.2772+48G>T)
c.2745+48G>T (n.2745+48G>T)
 dbSNP gnomAD v4
5g.148125662A>GCA2578443734SPINK5c.2740-61A>G (n.2740-61A>G)
c.2829+49A>G (n.2829+49A>G)
c.2772+49A>G (n.2772+49A>G)
c.2745+49A>G (n.2745+49A>G)
5g.148125663_148125664insAAAAACA2768831877SPINK5c.2740-60_2740-59insAAAAA (n.2740-60_2740-59insAAAAA)
c.2829+50_2829+51insAAAAA (n.2829+50_2829+51insAAAAA)
c.2772+50_2772+51insAAAAA (n.2772+50_2772+51insAAAAA)
c.2745+50_2745+51insAAAAA (n.2745+50_2745+51insAAAAA)
5g.148125663_148125664insAAAAAAACA2768831878SPINK5c.2740-60_2740-59insAAAAAAA (n.2740-60_2740-59insAAAAAAA)
c.2829+50_2829+51insAAAAAAA (n.2829+50_2829+51insAAAAAAA)
c.2772+50_2772+51insAAAAAAA (n.2772+50_2772+51insAAAAAAA)
c.2745+50_2745+51insAAAAAAA (n.2745+50_2745+51insAAAAAAA)
5g.148125663dupCA3496126SPINK5c.2740-60dup (n.2740-60dup)
c.2829+50dup (n.2829+50dup)
c.2772+50dup (n.2772+50dup)
c.2745+50dup (n.2745+50dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125664G>ACA11947094SPINK5c.2740-59G>A (n.2740-59G>A)
c.2829+51G>A (n.2829+51G>A)
c.2772+51G>A (n.2772+51G>A)
c.2745+51G>A (n.2745+51G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125664G>CCA1589900502SPINK5c.2740-59G>C (n.2740-59G>C)
c.2829+51G>C (n.2829+51G>C)
c.2772+51G>C (n.2772+51G>C)
c.2745+51G>C (n.2745+51G>C)
 dbSNP
5g.148125664G=CA1589900501SPINK5c.2740-59G= (n.2740-59G=)
c.2829+51G= (n.2829+51G=)
c.2772+51G= (n.2772+51G=)
c.2745+51G= (n.2745+51G=)
5g.148125664G>TCA2581509698SPINK5c.2740-59G>T (n.2740-59G>T)
c.2829+51G>T (n.2829+51G>T)
c.2772+51G>T (n.2772+51G>T)
c.2745+51G>T (n.2745+51G>T)
5g.148125667dupCA650631481SPINK5c.2740-56dup (n.2740-56dup)
c.2829+54dup (n.2829+54dup)
c.2772+54dup (n.2772+54dup)
c.2745+54dup (n.2745+54dup)
5g.148125666A>CCA2675859318SPINK5c.2740-57A>C (n.2740-57A>C)
c.2829+53A>C (n.2829+53A>C)
c.2772+53A>C (n.2772+53A>C)
c.2745+53A>C (n.2745+53A>C)
 gnomAD v4
5g.148125667A>GCA2675859319SPINK5c.2740-56A>G (n.2740-56A>G)
c.2829+54A>G (n.2829+54A>G)
c.2772+54A>G (n.2772+54A>G)
c.2745+54A>G (n.2745+54A>G)
 gnomAD v4
5g.148125667_148125668insAAAACCAAACACACCCAACCA2768831879SPINK5c.2740-56_2740-55insAAAACCAAACACACCCAAC (n.2740-56_2740-55insAAAACCAAACACACCCAAC)
c.2829+54_2830-55insAAAACCAAACACACCCAAC (n.2829+54_2830-55insAAAACCAAACACACCCAAC)
c.2772+54_2773-55insAAAACCAAACACACCCAAC (n.2772+54_2773-55insAAAACCAAACACACCCAAC)
c.2745+54_2746-55insAAAACCAAACACACCCAAC (n.2745+54_2746-55insAAAACCAAACACACCCAAC)
5g.148125668T>ACA2768831880SPINK5c.2740-55T>A (n.2740-55T>A)
c.2830-55T>A (n.2830-55T>A)
c.2773-55T>A (n.2773-55T>A)
c.2746-55T>A (n.2746-55T>A)
5g.148125668T>CCA128941282SPINK5c.2740-55T>C (n.2740-55T>C)
c.2830-55T>C (n.2830-55T>C)
c.2773-55T>C (n.2773-55T>C)
c.2746-55T>C (n.2746-55T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125668T=CA1589900503SPINK5c.2740-55T= (n.2740-55T=)
c.2830-55T= (n.2830-55T=)
c.2773-55T= (n.2773-55T=)
c.2746-55T= (n.2746-55T=)
5g.148125669C>ACA2675859320SPINK5c.2740-54C>A (n.2740-54C>A)
c.2830-54C>A (n.2830-54C>A)
c.2773-54C>A (n.2773-54C>A)
c.2746-54C>A (n.2746-54C>A)
 gnomAD v4
5g.148125669C>TCA2675859321SPINK5c.2740-54C>T (n.2740-54C>T)
c.2830-54C>T (n.2830-54C>T)
c.2773-54C>T (n.2773-54C>T)
c.2746-54C>T (n.2746-54C>T)
 gnomAD v4
5g.148125670A>GCA2675859322SPINK5c.2740-53A>G (n.2740-53A>G)
c.2830-53A>G (n.2830-53A>G)
c.2773-53A>G (n.2773-53A>G)
c.2746-53A>G (n.2746-53A>G)
 gnomAD v4
5g.148125671C>ACA2768831881SPINK5c.2740-52C>A (n.2740-52C>A)
c.2830-52C>A (n.2830-52C>A)
c.2773-52C>A (n.2773-52C>A)
c.2746-52C>A (n.2746-52C>A)
5g.148125671C>GCA2675859323SPINK5c.2740-52C>G (n.2740-52C>G)
c.2830-52C>G (n.2830-52C>G)
c.2773-52C>G (n.2773-52C>G)
c.2746-52C>G (n.2746-52C>G)
 gnomAD v4
5g.148125672T>ACA2768831882SPINK5c.2740-51T>A (n.2740-51T>A)
c.2830-51T>A (n.2830-51T>A)
c.2773-51T>A (n.2773-51T>A)
c.2746-51T>A (n.2746-51T>A)
5g.148125675G>ACA2768831883SPINK5c.2740-48G>A (n.2740-48G>A)
c.2830-48G>A (n.2830-48G>A)
c.2773-48G>A (n.2773-48G>A)
c.2746-48G>A (n.2746-48G>A)
5g.148125676C>ACA2675859325SPINK5c.2740-47C>A (n.2740-47C>A)
c.2830-47C>A (n.2830-47C>A)
c.2773-47C>A (n.2773-47C>A)
c.2746-47C>A (n.2746-47C>A)
 gnomAD v4
5g.148125678_148125706delCA2675859324SPINK5c.2740-45_2740-17del (n.2740-45_2740-17del)
c.2830-45_2830-17del (n.2830-45_2830-17del)
c.2773-45_2773-17del (n.2773-45_2773-17del)
c.2746-45_2746-17del (n.2746-45_2746-17del)
 gnomAD v4
5g.148125677C>ACA2768831884SPINK5c.2740-46C>A (n.2740-46C>A)
c.2830-46C>A (n.2830-46C>A)
c.2773-46C>A (n.2773-46C>A)
c.2746-46C>A (n.2746-46C>A)
5g.148125678A=CA1589900504SPINK5c.2740-45A= (n.2740-45A=)
c.2830-45A= (n.2830-45A=)
c.2773-45A= (n.2773-45A=)
c.2746-45A= (n.2746-45A=)
5g.148125678A>GCA563525684SPINK5c.2740-45A>G (n.2740-45A>G)
c.2830-45A>G (n.2830-45A>G)
c.2773-45A>G (n.2773-45A>G)
c.2746-45A>G (n.2746-45A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.148125680A=CA1589900505SPINK5c.2740-43A= (n.2740-43A=)
c.2830-43A= (n.2830-43A=)
c.2773-43A= (n.2773-43A=)
c.2746-43A= (n.2746-43A=)
5g.148125680A>CCA3496127SPINK5c.2740-43A>C (n.2740-43A>C)
c.2830-43A>C (n.2830-43A>C)
c.2773-43A>C (n.2773-43A>C)
c.2746-43A>C (n.2746-43A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125683G>CCA563525685SPINK5c.2740-40G>C (n.2740-40G>C)
c.2830-40G>C (n.2830-40G>C)
c.2773-40G>C (n.2773-40G>C)
c.2746-40G>C (n.2746-40G>C)
 dbSNP gnomAD v2 gnomAD v4
5g.148125683G=CA1589900506SPINK5c.2740-40G= (n.2740-40G=)
c.2830-40G= (n.2830-40G=)
c.2773-40G= (n.2773-40G=)
c.2746-40G= (n.2746-40G=)
5g.148125683G>TCA563525686SPINK5c.2740-40G>T (n.2740-40G>T)
c.2830-40G>T (n.2830-40G>T)
c.2773-40G>T (n.2773-40G>T)
c.2746-40G>T (n.2746-40G>T)
 dbSNP gnomAD v2 gnomAD v4
5g.148125684G>ACA915221338SPINK5c.2740-39G>A (n.2740-39G>A)
c.2830-39G>A (n.2830-39G>A)
c.2773-39G>A (n.2773-39G>A)
c.2746-39G>A (n.2746-39G>A)
 gnomAD v2 gnomAD v4
5g.148125685G>TCA2675859326SPINK5c.2740-38G>T (n.2740-38G>T)
c.2830-38G>T (n.2830-38G>T)
c.2773-38G>T (n.2773-38G>T)
c.2746-38G>T (n.2746-38G>T)
 gnomAD v4
5g.148125687C>ACA3496129SPINK5c.2740-36C>A (n.2740-36C>A)
c.2830-36C>A (n.2830-36C>A)
c.2773-36C>A (n.2773-36C>A)
c.2746-36C>A (n.2746-36C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125687C=CA1589900508SPINK5c.2740-36C= (n.2740-36C=)
c.2830-36C= (n.2830-36C=)
c.2773-36C= (n.2773-36C=)
c.2746-36C= (n.2746-36C=)
5g.148125687_148125688delinsCACA1589900507SPINK5c.2740-36_2740-35delinsCA (n.2740-36_2740-35delinsCA)
c.2830-36_2830-35delinsCA (n.2830-36_2830-35delinsCA)
c.2773-36_2773-35delinsCA (n.2773-36_2773-35delinsCA)
c.2746-36_2746-35delinsCA (n.2746-36_2746-35delinsCA)
5g.148125690delCA3496128SPINK5c.2740-33del (n.2740-33del)
c.2830-33del (n.2830-33del)
c.2773-33del (n.2773-33del)
c.2746-33del (n.2746-33del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125691G>ACA563525687SPINK5c.2740-32G>A (n.2740-32G>A)
c.2830-32G>A (n.2830-32G>A)
c.2773-32G>A (n.2773-32G>A)
c.2746-32G>A (n.2746-32G>A)
 dbSNP gnomAD v2
5g.148125691G=CA1589900509SPINK5c.2740-32G= (n.2740-32G=)
c.2830-32G= (n.2830-32G=)
c.2773-32G= (n.2773-32G=)
c.2746-32G= (n.2746-32G=)
5g.148125692C>TCA2578443735SPINK5c.2740-31C>T (n.2740-31C>T)
c.2830-31C>T (n.2830-31C>T)
c.2773-31C>T (n.2773-31C>T)
c.2746-31C>T (n.2746-31C>T)
 gnomAD v4
5g.148125694A=CA1589900510SPINK5c.2740-29A= (n.2740-29A=)
c.2830-29A= (n.2830-29A=)
c.2773-29A= (n.2773-29A=)
c.2746-29A= (n.2746-29A=)
5g.148125694A>GCA128941317SPINK5c.2740-29A>G (n.2740-29A>G)
c.2830-29A>G (n.2830-29A>G)
c.2773-29A>G (n.2773-29A>G)
c.2746-29A>G (n.2746-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.148125694A>TCA3496130SPINK5c.2740-29A>T (n.2740-29A>T)
c.2830-29A>T (n.2830-29A>T)
c.2773-29A>T (n.2773-29A>T)
c.2746-29A>T (n.2746-29A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125695T>CCA563525688SPINK5c.2740-28T>C (n.2740-28T>C)
c.2830-28T>C (n.2830-28T>C)
c.2773-28T>C (n.2773-28T>C)
c.2746-28T>C (n.2746-28T>C)
 dbSNP gnomAD v2 gnomAD v4
5g.148125695T>GCA2675859327SPINK5c.2740-28T>G (n.2740-28T>G)
c.2830-28T>G (n.2830-28T>G)
c.2773-28T>G (n.2773-28T>G)
c.2746-28T>G (n.2746-28T>G)
 gnomAD v4
5g.148125695T=CA1589900511SPINK5c.2740-28T= (n.2740-28T=)
c.2830-28T= (n.2830-28T=)
c.2773-28T= (n.2773-28T=)
c.2746-28T= (n.2746-28T=)
5g.148125697T>CCA1589900513SPINK5c.2740-26T>C (n.2740-26T>C)
c.2830-26T>C (n.2830-26T>C)
c.2773-26T>C (n.2773-26T>C)
c.2746-26T>C (n.2746-26T>C)
 dbSNP
5g.148125697T=CA1589900512SPINK5c.2740-26T= (n.2740-26T=)
c.2830-26T= (n.2830-26T=)
c.2773-26T= (n.2773-26T=)
c.2746-26T= (n.2746-26T=)
5g.148125700A>TCA2675859328SPINK5c.2740-23A>T (n.2740-23A>T)
c.2830-23A>T (n.2830-23A>T)
c.2773-23A>T (n.2773-23A>T)
c.2746-23A>T (n.2746-23A>T)
 gnomAD v4
5g.148125702T>CCA2675859329SPINK5c.2740-21T>C (n.2740-21T>C)
c.2830-21T>C (n.2830-21T>C)
c.2773-21T>C (n.2773-21T>C)
c.2746-21T>C (n.2746-21T>C)
 gnomAD v4
5g.148125703T>ACA2675859330SPINK5c.2740-20T>A (n.2740-20T>A)
c.2830-20T>A (n.2830-20T>A)
c.2773-20T>A (n.2773-20T>A)
c.2746-20T>A (n.2746-20T>A)
 gnomAD v4
5g.148125706C>ACA3496131SPINK5c.2740-17C>A (n.2740-17C>A)
c.2830-17C>A (n.2830-17C>A)
c.2773-17C>A (n.2773-17C>A)
c.2746-17C>A (n.2746-17C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125706C=CA1589900514SPINK5c.2740-17C= (n.2740-17C=)
c.2830-17C= (n.2830-17C=)
c.2773-17C= (n.2773-17C=)
c.2746-17C= (n.2746-17C=)
5g.148125706C>GCA128941328SPINK5c.2740-17C>G (n.2740-17C>G)
c.2830-17C>G (n.2830-17C>G)
c.2773-17C>G (n.2773-17C>G)
c.2746-17C>G (n.2746-17C>G)
 ClinVar dbSNP gnomAD v4
5g.148125706C>TCA1589900515SPINK5c.2740-17C>T (n.2740-17C>T)
c.2830-17C>T (n.2830-17C>T)
c.2773-17C>T (n.2773-17C>T)
c.2746-17C>T (n.2746-17C>T)
 dbSNP
5g.148125707C=CA1589900516SPINK5c.2740-16C= (n.2740-16C=)
c.2830-16C= (n.2830-16C=)
c.2773-16C= (n.2773-16C=)
c.2746-16C= (n.2746-16C=)
5g.148125707C>TCA1589900517SPINK5c.2740-16C>T (n.2740-16C>T)
c.2830-16C>T (n.2830-16C>T)
c.2773-16C>T (n.2773-16C>T)
c.2746-16C>T (n.2746-16C>T)
 dbSNP
5g.148125708T>CCA805388596SPINK5c.2740-15T>C (n.2740-15T>C)
c.2830-15T>C (n.2830-15T>C)
c.2773-15T>C (n.2773-15T>C)
c.2746-15T>C (n.2746-15T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148125708T=CA1589900518SPINK5c.2740-15T= (n.2740-15T=)
c.2830-15T= (n.2830-15T=)
c.2773-15T= (n.2773-15T=)
c.2746-15T= (n.2746-15T=)
5g.148125711C>GCA2675859331SPINK5c.2740-12C>G (n.2740-12C>G)
c.2830-12C>G (n.2830-12C>G)
c.2773-12C>G (n.2773-12C>G)
c.2746-12C>G (n.2746-12C>G)
 gnomAD v4
5g.148125713C=CA1589900519SPINK5c.2740-10C= (n.2740-10C=)
c.2830-10C= (n.2830-10C=)
c.2773-10C= (n.2773-10C=)
c.2746-10C= (n.2746-10C=)
5g.148125713C>TCA128941330SPINK5c.2740-10C>T (n.2740-10C>T)
c.2830-10C>T (n.2830-10C>T)
c.2773-10C>T (n.2773-10C>T)
c.2746-10C>T (n.2746-10C>T)
 dbSNP gnomAD v4
5g.148125714delCA2768831885SPINK5c.2740-9del (n.2740-9del)
c.2830-9del (n.2830-9del)
c.2773-9del (n.2773-9del)
c.2746-9del (n.2746-9del)
5g.148125715T>CCA2675859332SPINK5c.2740-8T>C (n.2740-8T>C)
c.2830-8T>C (n.2830-8T>C)
c.2773-8T>C (n.2773-8T>C)
c.2746-8T>C (n.2746-8T>C)
 gnomAD v4
5g.148125717_148125759delCA2768831886SPINK5c.2740-6_2776del
c.2830-6_2866del
c.2773-6_2809del
c.2746-6_2782del
5g.148125719C=CA1589900520SPINK5c.2740-4C= (n.2740-4C=)
c.2830-4C= (n.2830-4C=)
c.2773-4C= (n.2773-4C=)
c.2746-4C= (n.2746-4C=)
5g.148125719C>GCA2675859333SPINK5c.2740-4C>G (n.2740-4C>G)
c.2830-4C>G (n.2830-4C>G)
c.2773-4C>G (n.2773-4C>G)
c.2746-4C>G (n.2746-4C>G)
 gnomAD v4
5g.148125719C>TCA563525689SPINK5c.2740-4C>T (n.2740-4C>T)
c.2830-4C>T (n.2830-4C>T)
c.2773-4C>T (n.2773-4C>T)
c.2746-4C>T (n.2746-4C>T)
 dbSNP gnomAD v2
5g.148125721A>CCA361649614SPINK5c.2740-2A>C (n.2740-2A>C)
c.2830-2A>C (n.2830-2A>C)
c.2773-2A>C (n.2773-2A>C)
c.2746-2A>C (n.2746-2A>C)
5g.148125721A>GCA361649616SPINK5c.2740-2A>G (n.2740-2A>G)
c.2830-2A>G (n.2830-2A>G)
c.2773-2A>G (n.2773-2A>G)
c.2746-2A>G (n.2746-2A>G)
5g.148125721A>TCA361649619SPINK5c.2740-2A>T (n.2740-2A>T)
c.2830-2A>T (n.2830-2A>T)
c.2773-2A>T (n.2773-2A>T)
c.2746-2A>T (n.2746-2A>T)
 gnomAD v4
5g.148125722G>ACA361649622SPINK5c.2740-1G>A (n.2740-1G>A)
c.2830-1G>A (n.2830-1G>A)
c.2773-1G>A (n.2773-1G>A)
c.2746-1G>A (n.2746-1G>A)
5g.148125722G>CCA16042508SPINK5c.2740-1G>C (n.2740-1G>C)
c.2830-1G>C (n.2830-1G>C)
c.2773-1G>C (n.2773-1G>C)
c.2746-1G>C (n.2746-1G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148125722G=CA1589900521SPINK5c.2740-1G= (n.2740-1G=)
c.2830-1G= (n.2830-1G=)
c.2773-1G= (n.2773-1G=)
c.2746-1G= (n.2746-1G=)
5g.148125722G>TCA361649627SPINK5c.2740-1G>T (n.2740-1G>T)
c.2830-1G>T (n.2830-1G>T)
c.2773-1G>T (n.2773-1G>T)
c.2746-1G>T (n.2746-1G>T)
5g.148125723G>ACA361649630SPINK5c.2740G>A (p.Asp914Asn)
c.2830G>A (p.Asp944Asn)
c.2773G>A (p.Asp925Asn)
c.2746G>A (p.Asp916Asn)
5g.148125723G>CCA361649633SPINK5c.2740G>C (p.Asp914His)
c.2830G>C (p.Asp944His)
c.2773G>C (p.Asp925His)
c.2746G>C (p.Asp916His)
5g.148125723G>TCA361649628SPINK5c.2740G>T (p.Asp914Tyr)
c.2830G>T (p.Asp944Tyr)
c.2773G>T (p.Asp925Tyr)
c.2746G>T (p.Asp916Tyr)
 COSMIC COSMIC
5g.148125724A>CCA361649639SPINK5c.2741A>C (p.Asp914Ala)
c.2831A>C (p.Asp944Ala)
c.2774A>C (p.Asp925Ala)
c.2747A>C (p.Asp916Ala)
5g.148125724A>GCA361649640SPINK5c.2741A>G (p.Asp914Gly)
c.2831A>G (p.Asp944Gly)
c.2774A>G (p.Asp925Gly)
c.2747A>G (p.Asp916Gly)
5g.148125724A>TCA361649642SPINK5c.2741A>T (p.Asp914Val)
c.2831A>T (p.Asp944Val)
c.2774A>T (p.Asp925Val)
c.2747A>T (p.Asp916Val)
5g.148125725T>ACA361649645SPINK5c.2742T>A (p.Asp914Glu)
c.2832T>A (p.Asp944Glu)
c.2775T>A (p.Asp925Glu)
c.2748T>A (p.Asp916Glu)
5g.148125725T>CCA446937789SPINK5c.2742T>C (p.Asp914=)
c.2832T>C (p.Asp944=)
c.2775T>C (p.Asp925=)
c.2748T>C (p.Asp916=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
5g.148125725T>GCA361649647SPINK5c.2742T>G (p.Asp914Glu)
c.2832T>G (p.Asp944Glu)
c.2775T>G (p.Asp925Glu)
c.2748T>G (p.Asp916Glu)
5g.148125725T=CA1589900522SPINK5c.2742T= (p.Asp914=)
c.2832T= (p.Asp944=)
c.2775T= (p.Asp925=)
c.2748T= (p.Asp916=)
5g.148125726G>ACA361649652SPINK5c.2743G>A (p.Glu915Lys)
c.2833G>A (p.Glu945Lys)
c.2776G>A (p.Glu926Lys)
c.2749G>A (p.Glu917Lys)
 gnomAD v4 COSMIC COSMIC
5g.148125726G>CCA361649649SPINK5c.2743G>C (p.Glu915Gln)
c.2833G>C (p.Glu945Gln)
c.2776G>C (p.Glu926Gln)
c.2749G>C (p.Glu917Gln)
5g.148125726G>TCA361649650SPINK5c.2743G>T (p.Glu915Ter)
c.2833G>T (p.Glu945Ter)
c.2776G>T (p.Glu926Ter)
c.2749G>T (p.Glu917Ter)
5g.148125727A>CCA361649653SPINK5c.2744A>C (p.Glu915Ala)
c.2834A>C (p.Glu945Ala)
c.2777A>C (p.Glu926Ala)
c.2750A>C (p.Glu917Ala)
5g.148125727A>GCA361649654SPINK5c.2744A>G (p.Glu915Gly)
c.2834A>G (p.Glu945Gly)
c.2777A>G (p.Glu926Gly)
c.2750A>G (p.Glu917Gly)
5g.148125727A>TCA361649655SPINK5c.2744A>T (p.Glu915Val)
c.2834A>T (p.Glu945Val)
c.2777A>T (p.Glu926Val)
c.2750A>T (p.Glu917Val)
5g.148125728G>ACA446937791SPINK5c.2745G>A (p.Glu915=)
c.2835G>A (p.Glu945=)
c.2778G>A (p.Glu926=)
c.2751G>A (p.Glu917=)
 gnomAD v4
5g.148125728G>CCA361649656SPINK5c.2745G>C (p.Glu915Asp)
c.2835G>C (p.Glu945Asp)
c.2778G>C (p.Glu926Asp)
c.2751G>C (p.Glu917Asp)
 dbSNP
5g.148125728G=CA1589900523SPINK5c.2745G= (p.Glu915=)
c.2835G= (p.Glu945=)
c.2778G= (p.Glu926=)
c.2751G= (p.Glu917=)
5g.148125728G>TCA361649657SPINK5c.2745G>T (p.Glu915Asp)
c.2835G>T (p.Glu945Asp)
c.2778G>T (p.Glu926Asp)
c.2751G>T (p.Glu917Asp)
5g.148125729T>ACA361649666SPINK5c.2746T>A (p.Cys916Ser)
c.2836T>A (p.Cys946Ser)
c.2779T>A (p.Cys927Ser)
c.2752T>A (p.Cys918Ser)
5g.148125729T>CCA361649664SPINK5c.2746T>C (p.Cys916Arg)
c.2836T>C (p.Cys946Arg)
c.2779T>C (p.Cys927Arg)
c.2752T>C (p.Cys918Arg)
5g.148125729T>GCA361649661SPINK5c.2746T>G (p.Cys916Gly)
c.2836T>G (p.Cys946Gly)
c.2779T>G (p.Cys927Gly)
c.2752T>G (p.Cys918Gly)
5g.148125729dupCA3496132SPINK5c.2746dup (p.Cys916LeufsTer3)
c.2836dup (p.Cys946LeufsTer3)
c.2779dup (p.Cys927LeufsTer3)
c.2752dup (p.Cys918LeufsTer3)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125730G>ACA3496133SPINK5c.2747G>A (p.Cys916Tyr)
c.2837G>A (p.Cys946Tyr)
c.2780G>A (p.Cys927Tyr)
c.2753G>A (p.Cys918Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125730G>CCA361649667SPINK5c.2747G>C (p.Cys916Ser)
c.2837G>C (p.Cys946Ser)
c.2780G>C (p.Cys927Ser)
c.2753G>C (p.Cys918Ser)
5g.148125730G=CA1589900524SPINK5c.2747G= (p.Cys916=)
c.2837G= (p.Cys946=)
c.2780G= (p.Cys927=)
c.2753G= (p.Cys918=)
5g.148125730G>TCA361649668SPINK5c.2747G>T (p.Cys916Phe)
c.2837G>T (p.Cys946Phe)
c.2780G>T (p.Cys927Phe)
c.2753G>T (p.Cys918Phe)
5g.148125731C>ACA361649672SPINK5c.2748C>A (p.Cys916Ter)
c.2838C>A (p.Cys946Ter)
c.2781C>A (p.Cys927Ter)
c.2754C>A (p.Cys918Ter)
5g.148125731C>GCA361649674SPINK5c.2748C>G (p.Cys916Trp)
c.2838C>G (p.Cys946Trp)
c.2781C>G (p.Cys927Trp)
c.2754C>G (p.Cys918Trp)
5g.148125731C>TCA446937796SPINK5c.2748C>T (p.Cys916=)
c.2838C>T (p.Cys946=)
c.2781C>T (p.Cys927=)
c.2754C>T (p.Cys918=)
5g.148125732A>CCA361649677SPINK5c.2749A>C (p.Ser917Arg)
c.2839A>C (p.Ser947Arg)
c.2782A>C (p.Ser928Arg)
c.2755A>C (p.Ser919Arg)
5g.148125732A>GCA361649679SPINK5c.2749A>G (p.Ser917Gly)
c.2839A>G (p.Ser947Gly)
c.2782A>G (p.Ser928Gly)
c.2755A>G (p.Ser919Gly)
 gnomAD v4
5g.148125732A>TCA361649682SPINK5c.2749A>T (p.Ser917Cys)
c.2839A>T (p.Ser947Cys)
c.2782A>T (p.Ser928Cys)
c.2755A>T (p.Ser919Cys)
5g.148125733G>ACA361649684SPINK5c.2750G>A (p.Ser917Asn)
c.2840G>A (p.Ser947Asn)
c.2783G>A (p.Ser928Asn)
c.2756G>A (p.Ser919Asn)
5g.148125733G>CCA361649687SPINK5c.2750G>C (p.Ser917Thr)
c.2840G>C (p.Ser947Thr)
c.2783G>C (p.Ser928Thr)
c.2756G>C (p.Ser919Thr)
5g.148125733G>TCA361649688SPINK5c.2750G>T (p.Ser917Ile)
c.2840G>T (p.Ser947Ile)
c.2783G>T (p.Ser928Ile)
c.2756G>T (p.Ser919Ile)
5g.148125734T>ACA3496134SPINK5c.2751T>A (p.Ser917Arg)
c.2841T>A (p.Ser947Arg)
c.2784T>A (p.Ser928Arg)
c.2757T>A (p.Ser919Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125734T>CCA446937801SPINK5c.2751T>C (p.Ser917=)
c.2841T>C (p.Ser947=)
c.2784T>C (p.Ser928=)
c.2757T>C (p.Ser919=)
5g.148125734T>GCA361649691SPINK5c.2751T>G (p.Ser917Arg)
c.2841T>G (p.Ser947Arg)
c.2784T>G (p.Ser928Arg)
c.2757T>G (p.Ser919Arg)
5g.148125734T=CA1589900525SPINK5c.2751T= (p.Ser917=)
c.2841T= (p.Ser947=)
c.2784T= (p.Ser928=)
c.2757T= (p.Ser919=)
5g.148125735G>ACA361649695SPINK5c.2752G>A (p.Glu918Lys)
c.2842G>A (p.Glu948Lys)
c.2785G>A (p.Glu929Lys)
c.2758G>A (p.Glu920Lys)
5g.148125735G>CCA361649700SPINK5c.2752G>C (p.Glu918Gln)
c.2842G>C (p.Glu948Gln)
c.2785G>C (p.Glu929Gln)
c.2758G>C (p.Glu920Gln)
5g.148125735G>TCA361649698SPINK5c.2752G>T (p.Glu918Ter)
c.2842G>T (p.Glu948Ter)
c.2785G>T (p.Glu929Ter)
c.2758G>T (p.Glu920Ter)
 gnomAD v4
5g.148125736A=CA1589900526SPINK5c.2753A= (p.Glu918=)
c.2843A= (p.Glu948=)
c.2786A= (p.Glu929=)
c.2759A= (p.Glu920=)
5g.148125736A>CCA361649703SPINK5c.2753A>C (p.Glu918Ala)
c.2843A>C (p.Glu948Ala)
c.2786A>C (p.Glu929Ala)
c.2759A>C (p.Glu920Ala)
 dbSNP gnomAD v4
5g.148125736A>GCA361649709SPINK5c.2753A>G (p.Glu918Gly)
c.2843A>G (p.Glu948Gly)
c.2786A>G (p.Glu929Gly)
c.2759A>G (p.Glu920Gly)
5g.148125736A>TCA361649711SPINK5c.2753A>T (p.Glu918Val)
c.2843A>T (p.Glu948Val)
c.2786A>T (p.Glu929Val)
c.2759A>T (p.Glu920Val)
5g.148125737A=CA1589900527SPINK5c.2754A= (p.Glu918=)
c.2844A= (p.Glu948=)
c.2787A= (p.Glu929=)
c.2760A= (p.Glu920=)
5g.148125737A>CCA361649714SPINK5c.2754A>C (p.Glu918Asp)
c.2844A>C (p.Glu948Asp)
c.2787A>C (p.Glu929Asp)
c.2760A>C (p.Glu920Asp)
5g.148125737A>GCA3496135SPINK5c.2754A>G (p.Glu918=)
c.2844A>G (p.Glu948=)
c.2787A>G (p.Glu929=)
c.2760A>G (p.Glu920=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125737A>TCA361649717SPINK5c.2754A>T (p.Glu918Asp)
c.2844A>T (p.Glu948Asp)
c.2787A>T (p.Glu929Asp)
c.2760A>T (p.Glu920Asp)
5g.148125738T>ACA361649720SPINK5c.2755T>A (p.Phe919Ile)
c.2845T>A (p.Phe949Ile)
c.2788T>A (p.Phe930Ile)
c.2761T>A (p.Phe921Ile)
5g.148125738T>CCA361649723SPINK5c.2755T>C (p.Phe919Leu)
c.2845T>C (p.Phe949Leu)
c.2788T>C (p.Phe930Leu)
c.2761T>C (p.Phe921Leu)
5g.148125738T>GCA361649726SPINK5c.2755T>G (p.Phe919Val)
c.2845T>G (p.Phe949Val)
c.2788T>G (p.Phe930Val)
c.2761T>G (p.Phe921Val)
5g.148125739T>ACA361649728SPINK5c.2756T>A (p.Phe919Tyr)
c.2846T>A (p.Phe949Tyr)
c.2789T>A (p.Phe930Tyr)
c.2762T>A (p.Phe921Tyr)
5g.148125739T>CCA361649731SPINK5c.2756T>C (p.Phe919Ser)
c.2846T>C (p.Phe949Ser)
c.2789T>C (p.Phe930Ser)
c.2762T>C (p.Phe921Ser)
5g.148125739T>GCA361649734SPINK5c.2756T>G (p.Phe919Cys)
c.2846T>G (p.Phe949Cys)
c.2789T>G (p.Phe930Cys)
c.2762T>G (p.Phe921Cys)
 gnomAD v4
5g.148125740T>ACA361649735SPINK5c.2757T>A (p.Phe919Leu)
c.2847T>A (p.Phe949Leu)
c.2790T>A (p.Phe930Leu)
c.2763T>A (p.Phe921Leu)
5g.148125740T>CCA446937807SPINK5c.2757T>C (p.Phe919=)
c.2847T>C (p.Phe949=)
c.2790T>C (p.Phe930=)
c.2763T>C (p.Phe921=)
5g.148125740T>GCA361649737SPINK5c.2757T>G (p.Phe919Leu)
c.2847T>G (p.Phe949Leu)
c.2790T>G (p.Phe930Leu)
c.2763T>G (p.Phe921Leu)
5g.148125741C>ACA446937809SPINK5c.2758C>A (p.Arg920=)
c.2848C>A (p.Arg950=)
c.2791C>A (p.Arg931=)
c.2764C>A (p.Arg922=)
5g.148125741C=CA1589900528SPINK5c.2758C= (p.Arg920=)
c.2848C= (p.Arg950=)
c.2791C= (p.Arg931=)
c.2764C= (p.Arg922=)
5g.148125741C>GCA361649738SPINK5c.2758C>G (p.Arg920Gly)
c.2848C>G (p.Arg950Gly)
c.2791C>G (p.Arg931Gly)
c.2764C>G (p.Arg922Gly)
5g.148125741C>TCA3496136SPINK5c.2758C>T (p.Arg920Ter)
c.2848C>T (p.Arg950Ter)
c.2791C>T (p.Arg931Ter)
c.2764C>T (p.Arg922Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.148125742G>ACA3496137SPINK5c.2759G>A (p.Arg920Gln)
c.2849G>A (p.Arg950Gln)
c.2792G>A (p.Arg931Gln)
c.2765G>A (p.Arg922Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125742G>CCA3496138SPINK5c.2759G>C (p.Arg920Pro)
c.2849G>C (p.Arg950Pro)
c.2792G>C (p.Arg931Pro)
c.2765G>C (p.Arg922Pro)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.148125742G=CA1589900529SPINK5c.2759G= (p.Arg920=)
c.2849G= (p.Arg950=)
c.2792G= (p.Arg931=)
c.2765G= (p.Arg922=)
5g.148125742G>TCA361649739SPINK5c.2759G>T (p.Arg920Leu)
c.2849G>T (p.Arg950Leu)
c.2792G>T (p.Arg931Leu)
c.2765G>T (p.Arg922Leu)
5g.148125743A>CCA446937811SPINK5c.2760A>C (p.Arg920=)
c.2850A>C (p.Arg950=)
c.2793A>C (p.Arg931=)
c.2766A>C (p.Arg922=)
5g.148125743A>GCA446937813SPINK5c.2760A>G (p.Arg920=)
c.2850A>G (p.Arg950=)
c.2793A>G (p.Arg931=)
c.2766A>G (p.Arg922=)
 ClinVar
5g.148125743A>TCA446937814SPINK5c.2760A>T (p.Arg920=)
c.2850A>T (p.Arg950=)
c.2793A>T (p.Arg931=)
c.2766A>T (p.Arg922=)
5g.148125744A>CCA361649741SPINK5c.2761A>C (p.Asn921His)
c.2851A>C (p.Asn951His)
c.2794A>C (p.Asn932His)
c.2767A>C (p.Asn923His)
5g.148125744A>GCA361649743SPINK5c.2761A>G (p.Asn921Asp)
c.2851A>G (p.Asn951Asp)
c.2794A>G (p.Asn932Asp)
c.2767A>G (p.Asn923Asp)
5g.148125744A>TCA361649745SPINK5c.2761A>T (p.Asn921Tyr)
c.2851A>T (p.Asn951Tyr)
c.2794A>T (p.Asn932Tyr)
c.2767A>T (p.Asn923Tyr)
5g.148125745A=CA1589900530SPINK5c.2762A= (p.Asn921=)
c.2852A= (p.Asn951=)
c.2795A= (p.Asn932=)
c.2768A= (p.Asn923=)
5g.148125745A>CCA361649748SPINK5c.2762A>C (p.Asn921Thr)
c.2852A>C (p.Asn951Thr)
c.2795A>C (p.Asn932Thr)
c.2768A>C (p.Asn923Thr)
5g.148125745A>GCA3496139SPINK5c.2762A>G (p.Asn921Ser)
c.2852A>G (p.Asn951Ser)
c.2795A>G (p.Asn932Ser)
c.2768A>G (p.Asn923Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.148125745A>TCA361649752SPINK5c.2762A>T (p.Asn921Ile)
c.2852A>T (p.Asn951Ile)
c.2795A>T (p.Asn932Ile)
c.2768A>T (p.Asn923Ile)
5g.148125746C>ACA361649754SPINK5c.2763C>A (p.Asn921Lys)
c.2853C>A (p.Asn951Lys)
c.2796C>A (p.Asn932Lys)
c.2769C>A (p.Asn923Lys)
5g.148125746C=CA1589900531SPINK5c.2763C= (p.Asn921=)
c.2853C= (p.Asn951=)
c.2796C= (p.Asn932=)
c.2769C= (p.Asn923=)
5g.148125746C>GCA361649756SPINK5c.2763C>G (p.Asn921Lys)
c.2853C>G (p.Asn951Lys)
c.2796C>G (p.Asn932Lys)
c.2769C>G (p.Asn923Lys)
 dbSNP gnomAD v4
5g.148125746C>TCA446937819SPINK5c.2763C>T (p.Asn921=)
c.2853C>T (p.Asn951=)
c.2796C>T (p.Asn932=)
c.2769C>T (p.Asn923=)
5g.148125747T>ACA361649758SPINK5c.2764T>A (p.Tyr922Asn)
c.2854T>A (p.Tyr952Asn)
c.2797T>A (p.Tyr933Asn)
c.2770T>A (p.Tyr924Asn)
5g.148125747T>CCA361649764SPINK5c.2764T>C (p.Tyr922His)
c.2854T>C (p.Tyr952His)
c.2797T>C (p.Tyr933His)
c.2770T>C (p.Tyr924His)
5g.148125747T>GCA361649761SPINK5c.2764T>G (p.Tyr922Asp)
c.2854T>G (p.Tyr952Asp)
c.2797T>G (p.Tyr933Asp)
c.2770T>G (p.Tyr924Asp)
5g.148125748A=CA1589900532SPINK5c.2765A= (p.Tyr922=)
c.2855A= (p.Tyr952=)
c.2798A= (p.Tyr933=)
c.2771A= (p.Tyr924=)
5g.148125748A>CCA361649768SPINK5c.2765A>C (p.Tyr922Ser)
c.2855A>C (p.Tyr952Ser)
c.2798A>C (p.Tyr933Ser)
c.2771A>C (p.Tyr924Ser)
5g.148125748A>GCA128941393SPINK5c.2765A>G (p.Tyr922Cys)
c.2855A>G (p.Tyr952Cys)
c.2798A>G (p.Tyr933Cys)
c.2771A>G (p.Tyr924Cys)
 dbSNP gnomAD v2 gnomAD v4
5g.148125748A>TCA361649773SPINK5c.2765A>T (p.Tyr922Phe)
c.2855A>T (p.Tyr952Phe)
c.2798A>T (p.Tyr933Phe)
c.2771A>T (p.Tyr924Phe)
5g.148125749T>ACA361649777SPINK5c.2766T>A (p.Tyr922Ter)
c.2856T>A (p.Tyr952Ter)
c.2799T>A (p.Tyr933Ter)
c.2772T>A (p.Tyr924Ter)
5g.148125749T>CCA446937821SPINK5c.2766T>C (p.Tyr922=)
c.2856T>C (p.Tyr952=)
c.2799T>C (p.Tyr933=)
c.2772T>C (p.Tyr924=)
5g.148125749T>GCA361649779SPINK5c.2766T>G (p.Tyr922Ter)
c.2856T>G (p.Tyr952Ter)
c.2799T>G (p.Tyr933Ter)
c.2772T>G (p.Tyr924Ter)
5g.148125750A=CA1589900533SPINK5c.2767A= (p.Ile923=)
c.2857A= (p.Ile953=)
c.2800A= (p.Ile934=)
c.2773A= (p.Ile925=)
5g.148125750A>CCA361649792SPINK5c.2767A>C (p.Ile923Leu)
c.2857A>C (p.Ile953Leu)
c.2800A>C (p.Ile934Leu)
c.2773A>C (p.Ile925Leu)
5g.148125750A>GCA3496140SPINK5c.2767A>G (p.Ile923Val)
c.2857A>G (p.Ile953Val)
c.2800A>G (p.Ile934Val)
c.2773A>G (p.Ile925Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.148125750A>TCA361649782SPINK5c.2767A>T (p.Ile923Leu)
c.2857A>T (p.Ile953Leu)
c.2800A>T (p.Ile934Leu)
c.2773A>T (p.Ile925Leu)
5g.148125751T>ACA361649796SPINK5c.2768T>A (p.Ile923Lys)
c.2858T>A (p.Ile953Lys)
c.2801T>A (p.Ile934Lys)
c.2774T>A (p.Ile925Lys)
5g.148125751T>CCA361649799SPINK5c.2768T>C (p.Ile923Thr)
c.2858T>C (p.Ile953Thr)
c.2801T>C (p.Ile934Thr)
c.2774T>C (p.Ile925Thr)
5g.148125751T>GCA361649804SPINK5c.2768T>G (p.Ile923Arg)
c.2858T>G (p.Ile953Arg)
c.2801T>G (p.Ile934Arg)
c.2774T>G (p.Ile925Arg)
 dbSNP
5g.148125751T=CA1589900534SPINK5c.2768T= (p.Ile923=)
c.2858T= (p.Ile953=)
c.2801T= (p.Ile934=)
c.2774T= (p.Ile925=)
5g.148125752A>CCA446937826SPINK5c.2769A>C (p.Ile923=)
c.2859A>C (p.Ile953=)
c.2802A>C (p.Ile934=)
c.2775A>C (p.Ile925=)
5g.148125752A>GCA361649806SPINK5c.2769A>G (p.Ile923Met)
c.2859A>G (p.Ile953Met)
c.2802A>G (p.Ile934Met)
c.2775A>G (p.Ile925Met)
5g.148125752A>TCA446937827SPINK5c.2769A>T (p.Ile923=)
c.2859A>T (p.Ile953=)
c.2802A>T (p.Ile934=)
c.2775A>T (p.Ile925=)
5g.148125753A>CCA446937831SPINK5c.2770A>C (p.Arg924=)
c.2860A>C (p.Arg954=)
c.2803A>C (p.Arg935=)
c.2776A>C (p.Arg926=)
5g.148125753A>GCA361649809SPINK5c.2770A>G (p.Arg924Gly)
c.2860A>G (p.Arg954Gly)
c.2803A>G (p.Arg935Gly)
c.2776A>G (p.Arg926Gly)
5g.148125753A>TCA361649811SPINK5c.2770A>T (p.Arg924Trp)
c.2860A>T (p.Arg954Trp)
c.2803A>T (p.Arg935Trp)
c.2776A>T (p.Arg926Trp)
5g.148125754G>ACA361649812SPINK5c.2771G>A (p.Arg924Lys)
c.2861G>A (p.Arg954Lys)
c.2804G>A (p.Arg935Lys)
c.2777G>A (p.Arg926Lys)
 dbSNP gnomAD v3 gnomAD v4
5g.148125754G>CCA361649816SPINK5c.2771G>C (p.Arg924Thr)
c.2861G>C (p.Arg954Thr)
c.2804G>C (p.Arg935Thr)
c.2777G>C (p.Arg926Thr)
5g.148125754G=CA1589900535SPINK5c.2771G= (p.Arg924=)
c.2861G= (p.Arg954=)
c.2804G= (p.Arg935=)
c.2777G= (p.Arg926=)
5g.148125754G>TCA361649815SPINK5c.2771G>T (p.Arg924Met)
c.2861G>T (p.Arg954Met)
c.2804G>T (p.Arg935Met)
c.2777G>T (p.Arg926Met)

Number of alleles fetched