Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.3659856A=CA2243978459CTNSc.853-2A= (n.853-2A=)
c.100-2A= (n.100-2A=)
c.412-2A= (n.412-2A=)
n.2779-2A=
17g.3659856A>CCA397692890CTNSc.853-2A>C (n.853-2A>C)
c.100-2A>C (n.100-2A>C)
c.412-2A>C (n.412-2A>C)
n.2779-2A>C
17g.3659856A>GCA397692891CTNSc.853-2A>G (n.853-2A>G)
c.100-2A>G (n.100-2A>G)
c.412-2A>G (n.412-2A>G)
n.2779-2A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.3659856A>TCA397692893CTNSc.853-2A>T (n.853-2A>T)
c.100-2A>T (n.100-2A>T)
c.412-2A>T (n.412-2A>T)
n.2779-2A>T
17g.3659856_3659858delCA2576123920CTNSc.853-2_853del
c.100-2_100del
c.412-2_412del
n.2779-2_2779del
17g.3659857G>ACA397692898CTNSc.853-1G>A (n.853-1G>A)
c.100-1G>A (n.100-1G>A)
c.412-1G>A (n.412-1G>A)
n.2779-1G>A
 ClinVar dbSNP
17g.3659857G>CCA397692895CTNSc.853-1G>C (n.853-1G>C)
c.100-1G>C (n.100-1G>C)
c.412-1G>C (n.412-1G>C)
n.2779-1G>C
17g.3659857G=CA2243978463CTNSc.853-1G= (n.853-1G=)
c.100-1G= (n.100-1G=)
c.412-1G= (n.412-1G=)
n.2779-1G=
17g.3659857G>TCA397692897CTNSc.853-1G>T (n.853-1G>T)
c.100-1G>T (n.100-1G>T)
c.412-1G>T (n.412-1G>T)
n.2779-1G>T
17g.3659858delCA2573153071CTNSc.853del
c.100del
c.412del
n.2779del
 ClinVar dbSNP
17g.3659858G>ACA397692899CTNSc.853G>A (p.Ala285Thr)
c.100G>A (p.Ala34Thr)
c.412G>A (p.Ala138Thr)
n.2779G>A
 gnomAD v4
17g.3659858G>CCA397692900CTNSc.853G>C (p.Ala285Pro)
c.100G>C (p.Ala34Pro)
c.412G>C (p.Ala138Pro)
n.2779G>C
17g.3659858G>TCA397692901CTNSc.853G>T (p.Ala285Ser)
c.100G>T (p.Ala34Ser)
c.412G>T (p.Ala138Ser)
n.2779G>T
17g.3659859C>ACA397692903CTNSc.854C>A (p.Ala285Asp)
c.101C>A (p.Ala34Asp)
c.413C>A (p.Ala138Asp)
n.2780C>A
 dbSNP gnomAD v4
17g.3659859C=CA2243978466CTNSc.854C= (p.Ala285=)
c.101C= (p.Ala34=)
c.413C= (p.Ala138=)
n.2780C=
17g.3659859C>GCA397692905CTNSc.854C>G (p.Ala285Gly)
c.101C>G (p.Ala34Gly)
c.413C>G (p.Ala138Gly)
n.2780C>G
17g.3659859C>TCA397692907CTNSc.854C>T (p.Ala285Val)
c.101C>T (p.Ala34Val)
c.413C>T (p.Ala138Val)
n.2780C>T
 dbSNP gnomAD v2 gnomAD v4
17g.3659860C>ACA497466479CTNSc.855C>A (p.Ala285=)
c.102C>A (p.Ala34=)
c.414C>A (p.Ala138=)
n.2781C>A
17g.3659860C=CA2243978468CTNSc.855C= (p.Ala285=)
c.102C= (p.Ala34=)
c.414C= (p.Ala138=)
n.2781C=
17g.3659860C>GCA497466481CTNSc.855C>G (p.Ala285=)
c.102C>G (p.Ala34=)
c.414C>G (p.Ala138=)
n.2781C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659860C>TCA497466482CTNSc.855C>T (p.Ala285=)
c.102C>T (p.Ala34=)
c.414C>T (p.Ala138=)
n.2781C>T
17g.3659861T>ACA397692909CTNSc.856T>A (p.Tyr286Asn)
c.103T>A (p.Tyr35Asn)
c.415T>A (p.Tyr139Asn)
n.2782T>A
17g.3659861T>CCA397692910CTNSc.856T>C (p.Tyr286His)
c.103T>C (p.Tyr35His)
c.415T>C (p.Tyr139His)
n.2782T>C
17g.3659861T>GCA397692912CTNSc.856T>G (p.Tyr286Asp)
c.103T>G (p.Tyr35Asp)
c.415T>G (p.Tyr139Asp)
n.2782T>G
17g.3659862A>CCA397692913CTNSc.857A>C (p.Tyr286Ser)
c.104A>C (p.Tyr35Ser)
c.416A>C (p.Tyr139Ser)
n.2783A>C
17g.3659862A>GCA397692915CTNSc.857A>G (p.Tyr286Cys)
c.104A>G (p.Tyr35Cys)
c.416A>G (p.Tyr139Cys)
n.2783A>G
17g.3659862A>TCA397692917CTNSc.857A>T (p.Tyr286Phe)
c.104A>T (p.Tyr35Phe)
c.416A>T (p.Tyr139Phe)
n.2783A>T
17g.3659863C>ACA397692921CTNSc.858C>A (p.Tyr286Ter)
c.105C>A (p.Tyr35Ter)
c.417C>A (p.Tyr139Ter)
n.2784C>A
17g.3659863C=CA2243978472CTNSc.858C= (p.Tyr286=)
c.105C= (p.Tyr35=)
c.417C= (p.Tyr139=)
n.2784C=
17g.3659863C>GCA397692919CTNSc.858C>G (p.Tyr286Ter)
c.105C>G (p.Tyr35Ter)
c.417C>G (p.Tyr139Ter)
n.2784C>G
17g.3659863C>TCA497466488CTNSc.858C>T (p.Tyr286=)
c.105C>T (p.Tyr35=)
c.417C>T (p.Tyr139=)
n.2784C>T
 ClinVar dbSNP
17g.3659864A=CA2243978476CTNSc.859A= (p.Met287=)
c.106A= (p.Met36=)
c.418A= (p.Met140=)
n.2785A=
17g.3659864A>CCA287019786CTNSc.859A>C (p.Met287Leu)
c.106A>C (p.Met36Leu)
c.418A>C (p.Met140Leu)
n.2785A>C
 dbSNP
17g.3659864A>GCA287019791CTNSc.859A>G (p.Met287Val)
c.106A>G (p.Met36Val)
c.418A>G (p.Met140Val)
n.2785A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.3659864A>TCA397692924CTNSc.859A>T (p.Met287Leu)
c.106A>T (p.Met36Leu)
c.418A>T (p.Met140Leu)
n.2785A>T
17g.3659865T>ACA397692927CTNSc.860T>A (p.Met287Lys)
c.107T>A (p.Met36Lys)
c.419T>A (p.Met140Lys)
n.2786T>A
17g.3659865T>CCA8291941CTNSc.860T>C (p.Met287Thr)
c.107T>C (p.Met36Thr)
c.419T>C (p.Met140Thr)
n.2786T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.3659865T>GCA397692930CTNSc.860T>G (p.Met287Arg)
c.107T>G (p.Met36Arg)
c.419T>G (p.Met140Arg)
n.2786T>G
17g.3659865T=CA2243978478CTNSc.860T= (p.Met287=)
c.107T= (p.Met36=)
c.419T= (p.Met140=)
n.2786T=
17g.3659866G>ACA397692931CTNSc.861G>A (p.Met287Ile)
c.108G>A (p.Met36Ile)
c.420G>A (p.Met140Ile)
n.2787G>A
 gnomAD v4
17g.3659866G>CCA287019799CTNSc.861G>C (p.Met287Ile)
c.108G>C (p.Met36Ile)
c.420G>C (p.Met140Ile)
n.2787G>C
 dbSNP gnomAD v3 gnomAD v4
17g.3659866G=CA2243978481CTNSc.861G= (p.Met287=)
c.108G= (p.Met36=)
c.420G= (p.Met140=)
n.2787G=
17g.3659866G>TCA397692934CTNSc.861G>T (p.Met287Ile)
c.108G>T (p.Met36Ile)
c.420G>T (p.Met140Ile)
n.2787G>T
17g.3659867A>CCA397692936CTNSc.862A>C (p.Asn288His)
c.109A>C (p.Asn37His)
c.421A>C (p.Asn141His)
n.2788A>C
17g.3659867A>GCA397692938CTNSc.862A>G (p.Asn288Asp)
c.109A>G (p.Asn37Asp)
c.421A>G (p.Asn141Asp)
n.2788A>G
17g.3659867A>TCA397692940CTNSc.862A>T (p.Asn288Tyr)
c.109A>T (p.Asn37Tyr)
c.421A>T (p.Asn141Tyr)
n.2788A>T
17g.3659868A=CA2243978483CTNSc.863A= (p.Asn288=)
c.110A= (p.Asn37=)
c.422A= (p.Asn141=)
n.2789A=
17g.3659868A>CCA397692942CTNSc.863A>C (p.Asn288Thr)
c.110A>C (p.Asn37Thr)
c.422A>C (p.Asn141Thr)
n.2789A>C
17g.3659868A>GCA397692943CTNSc.863A>G (p.Asn288Ser)
c.110A>G (p.Asn37Ser)
c.422A>G (p.Asn141Ser)
n.2789A>G
 dbSNP
17g.3659868A>TCA397692945CTNSc.863A>T (p.Asn288Ile)
c.110A>T (p.Asn37Ile)
c.422A>T (p.Asn141Ile)
n.2789A>T

Number of alleles fetched