Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128608839G>ACA2579470093SPTAN1c.4528-35G>A (n.4528-35G>A)
c.4492-35G>A (n.4492-35G>A)
c.3955-35G>A (n.3955-35G>A)
c.2115-35G>A
c.102-35G>A
n.5627-35G>A
c.4432-35G>A (n.4432-35G>A)
n.242-35G>A
c.4468-35G>A (n.4468-35G>A)
9g.128608840C>ACA2691934499SPTAN1c.4528-34C>A (n.4528-34C>A)
c.4492-34C>A (n.4492-34C>A)
c.3955-34C>A (n.3955-34C>A)
c.2115-34C>A
c.102-34C>A
n.5627-34C>A
c.4432-34C>A (n.4432-34C>A)
n.242-34C>A
c.4468-34C>A (n.4468-34C>A)
 gnomAD v4
9g.128608840C>TCA2720674401SPTAN1c.4528-34C>T (n.4528-34C>T)
c.4492-34C>T (n.4492-34C>T)
c.3955-34C>T (n.3955-34C>T)
c.2115-34C>T
c.102-34C>T
n.5627-34C>T
c.4432-34C>T (n.4432-34C>T)
n.242-34C>T
c.4468-34C>T (n.4468-34C>T)
 dbSNP
9g.128608841C>TCA2786023346SPTAN1c.4528-33C>T (n.4528-33C>T)
c.4492-33C>T (n.4492-33C>T)
c.3955-33C>T (n.3955-33C>T)
c.2115-33C>T
c.102-33C>T
n.5627-33C>T
c.4432-33C>T (n.4432-33C>T)
n.242-33C>T
c.4468-33C>T (n.4468-33C>T)
9g.128608842C=CA1880360357SPTAN1c.4528-32C= (n.4528-32C=)
c.4492-32C= (n.4492-32C=)
c.3955-32C= (n.3955-32C=)
c.2115-32C=
c.102-32C=
n.5627-32C=
c.4432-32C= (n.4432-32C=)
n.242-32C=
c.4468-32C= (n.4468-32C=)
9g.128608842C>TCA860274689SPTAN1c.4528-32C>T (n.4528-32C>T)
c.4492-32C>T (n.4492-32C>T)
c.3955-32C>T (n.3955-32C>T)
c.2115-32C>T
c.102-32C>T
n.5627-32C>T
c.4432-32C>T (n.4432-32C>T)
n.242-32C>T
c.4468-32C>T (n.4468-32C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.128608845C>GCA2579470094SPTAN1c.4528-29C>G (n.4528-29C>G)
c.4492-29C>G (n.4492-29C>G)
c.3955-29C>G (n.3955-29C>G)
c.2115-29C>G
c.102-29C>G
n.5627-29C>G
c.4432-29C>G (n.4432-29C>G)
n.242-29C>G
c.4468-29C>G (n.4468-29C>G)
9g.128608845C>TCA2691934500SPTAN1c.4528-29C>T (n.4528-29C>T)
c.4492-29C>T (n.4492-29C>T)
c.3955-29C>T (n.3955-29C>T)
c.2115-29C>T
c.102-29C>T
n.5627-29C>T
c.4432-29C>T (n.4432-29C>T)
n.242-29C>T
c.4468-29C>T (n.4468-29C>T)
 gnomAD v4
9g.128608845_128608846delCA1129349522SPTAN1c.4528-29_4528-28del (n.4528-29_4528-28del)
c.4492-29_4492-28del (n.4492-29_4492-28del)
c.3955-29_3955-28del (n.3955-29_3955-28del)
c.2115-29_2115-28del
c.102-29_102-28del
n.5627-29_5627-28del
c.4432-29_4432-28del (n.4432-29_4432-28del)
n.242-29_242-28del
c.4468-29_4468-28del (n.4468-29_4468-28del)
 gnomAD v3 gnomAD v4
9g.128608846T>GCA2691934501SPTAN1c.4528-28T>G (n.4528-28T>G)
c.4492-28T>G (n.4492-28T>G)
c.3955-28T>G (n.3955-28T>G)
c.2115-28T>G
c.102-28T>G
n.5627-28T>G
c.4432-28T>G (n.4432-28T>G)
n.242-28T>G
c.4468-28T>G (n.4468-28T>G)
 gnomAD v4
9g.128608847T>ACA5265193SPTAN1c.4528-27T>A (n.4528-27T>A)
c.4492-27T>A (n.4492-27T>A)
c.3955-27T>A (n.3955-27T>A)
c.2115-27T>A
c.102-27T>A
n.5627-27T>A
c.4432-27T>A (n.4432-27T>A)
n.242-27T>A
c.4468-27T>A (n.4468-27T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608847T>CCA2691934502SPTAN1c.4528-27T>C (n.4528-27T>C)
c.4492-27T>C (n.4492-27T>C)
c.3955-27T>C (n.3955-27T>C)
c.2115-27T>C
c.102-27T>C
n.5627-27T>C
c.4432-27T>C (n.4432-27T>C)
n.242-27T>C
c.4468-27T>C (n.4468-27T>C)
 gnomAD v4
9g.128608847T>GCA200399161SPTAN1c.4528-27T>G (n.4528-27T>G)
c.4492-27T>G (n.4492-27T>G)
c.3955-27T>G (n.3955-27T>G)
c.2115-27T>G
c.102-27T>G
n.5627-27T>G
c.4432-27T>G (n.4432-27T>G)
n.242-27T>G
c.4468-27T>G (n.4468-27T>G)
 dbSNP gnomAD v4
9g.128608847T=CA1880360358SPTAN1c.4528-27T= (n.4528-27T=)
c.4492-27T= (n.4492-27T=)
c.3955-27T= (n.3955-27T=)
c.2115-27T=
c.102-27T=
n.5627-27T=
c.4432-27T= (n.4432-27T=)
n.242-27T=
c.4468-27T= (n.4468-27T=)
9g.128608848G>CCA5265194SPTAN1c.4528-26G>C (n.4528-26G>C)
c.4492-26G>C (n.4492-26G>C)
c.3955-26G>C (n.3955-26G>C)
c.2115-26G>C
c.102-26G>C
n.5627-26G>C
c.4432-26G>C (n.4432-26G>C)
n.242-26G>C
c.4468-26G>C (n.4468-26G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608848G=CA1880360359SPTAN1c.4528-26G= (n.4528-26G=)
c.4492-26G= (n.4492-26G=)
c.3955-26G= (n.3955-26G=)
c.2115-26G=
c.102-26G=
n.5627-26G=
c.4432-26G= (n.4432-26G=)
n.242-26G=
c.4468-26G= (n.4468-26G=)
9g.128608848G>TCA2691934503SPTAN1c.4528-26G>T (n.4528-26G>T)
c.4492-26G>T (n.4492-26G>T)
c.3955-26G>T (n.3955-26G>T)
c.2115-26G>T
c.102-26G>T
n.5627-26G>T
c.4432-26G>T (n.4432-26G>T)
n.242-26G>T
c.4468-26G>T (n.4468-26G>T)
 gnomAD v4
9g.128608850T>CCA2720674403SPTAN1c.4528-24T>C (n.4528-24T>C)
c.4492-24T>C (n.4492-24T>C)
c.3955-24T>C (n.3955-24T>C)
c.2115-24T>C
c.102-24T>C
n.5627-24T>C
c.4432-24T>C (n.4432-24T>C)
n.242-24T>C
c.4468-24T>C (n.4468-24T>C)
 dbSNP
9g.128608852T>GCA860274690SPTAN1c.4528-22T>G (n.4528-22T>G)
c.4492-22T>G (n.4492-22T>G)
c.3955-22T>G (n.3955-22T>G)
c.2115-22T>G
c.102-22T>G
n.5627-22T>G
c.4432-22T>G (n.4432-22T>G)
n.242-22T>G
c.4468-22T>G (n.4468-22T>G)
 dbSNP
9g.128608852T=CA1880360360SPTAN1c.4528-22T= (n.4528-22T=)
c.4492-22T= (n.4492-22T=)
c.3955-22T= (n.3955-22T=)
c.2115-22T=
c.102-22T=
n.5627-22T=
c.4432-22T= (n.4432-22T=)
n.242-22T=
c.4468-22T= (n.4468-22T=)
9g.128608853C=CA1880360361SPTAN1c.4528-21C= (n.4528-21C=)
c.4492-21C= (n.4492-21C=)
c.3955-21C= (n.3955-21C=)
c.2115-21C=
c.102-21C=
n.5627-21C=
c.4432-21C= (n.4432-21C=)
n.242-21C=
c.4468-21C= (n.4468-21C=)
9g.128608853C>TCA5265195SPTAN1c.4528-21C>T (n.4528-21C>T)
c.4492-21C>T (n.4492-21C>T)
c.3955-21C>T (n.3955-21C>T)
c.2115-21C>T
c.102-21C>T
n.5627-21C>T
c.4432-21C>T (n.4432-21C>T)
n.242-21C>T
c.4468-21C>T (n.4468-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608854A=CA1880360362SPTAN1c.4528-20A= (n.4528-20A=)
c.4492-20A= (n.4492-20A=)
c.3955-20A= (n.3955-20A=)
c.2115-20A=
c.102-20A=
n.5627-20A=
c.4432-20A= (n.4432-20A=)
n.242-20A=
c.4468-20A= (n.4468-20A=)
9g.128608854A>CCA1129349530SPTAN1c.4528-20A>C (n.4528-20A>C)
c.4492-20A>C (n.4492-20A>C)
c.3955-20A>C (n.3955-20A>C)
c.2115-20A>C
c.102-20A>C
n.5627-20A>C
c.4432-20A>C (n.4432-20A>C)
n.242-20A>C
c.4468-20A>C (n.4468-20A>C)
 dbSNP gnomAD v3 gnomAD v4
9g.128608854A>GCA200399168SPTAN1c.4528-20A>G (n.4528-20A>G)
c.4492-20A>G (n.4492-20A>G)
c.3955-20A>G (n.3955-20A>G)
c.2115-20A>G
c.102-20A>G
n.5627-20A>G
c.4432-20A>G (n.4432-20A>G)
n.242-20A>G
c.4468-20A>G (n.4468-20A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128608855T>CCA590941642SPTAN1c.4528-19T>C (n.4528-19T>C)
c.4492-19T>C (n.4492-19T>C)
c.3955-19T>C (n.3955-19T>C)
c.2115-19T>C
c.102-19T>C
n.5627-19T>C
c.4432-19T>C (n.4432-19T>C)
n.242-19T>C
c.4468-19T>C (n.4468-19T>C)
 dbSNP gnomAD v2 gnomAD v4
9g.128608855T>GCA5265196SPTAN1c.4528-19T>G (n.4528-19T>G)
c.4492-19T>G (n.4492-19T>G)
c.3955-19T>G (n.3955-19T>G)
c.2115-19T>G
c.102-19T>G
n.5627-19T>G
c.4432-19T>G (n.4432-19T>G)
n.242-19T>G
c.4468-19T>G (n.4468-19T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608855T=CA1880360363SPTAN1c.4528-19T= (n.4528-19T=)
c.4492-19T= (n.4492-19T=)
c.3955-19T= (n.3955-19T=)
c.2115-19T=
c.102-19T=
n.5627-19T=
c.4432-19T= (n.4432-19T=)
n.242-19T=
c.4468-19T= (n.4468-19T=)
9g.128608856G>ACA2691934504SPTAN1c.4528-18G>A (n.4528-18G>A)
c.4492-18G>A (n.4492-18G>A)
c.3955-18G>A (n.3955-18G>A)
c.2115-18G>A
c.102-18G>A
n.5627-18G>A
c.4432-18G>A (n.4432-18G>A)
n.242-18G>A
c.4468-18G>A (n.4468-18G>A)
 gnomAD v4
9g.128608856_128608857delinsGCCA1880360364SPTAN1c.4528-18_4528-17delinsGC (n.4528-18_4528-17delinsGC)
c.4492-18_4492-17delinsGC (n.4492-18_4492-17delinsGC)
c.3955-18_3955-17delinsGC (n.3955-18_3955-17delinsGC)
c.2115-18_2115-17delinsGC
c.102-18_102-17delinsGC
n.5627-18_5627-17delinsGC
c.4432-18_4432-17delinsGC (n.4432-18_4432-17delinsGC)
n.242-18_242-17delinsGC
c.4468-18_4468-17delinsGC (n.4468-18_4468-17delinsGC)
9g.128608857C>ACA5265197SPTAN1c.4528-17C>A (n.4528-17C>A)
c.4492-17C>A (n.4492-17C>A)
c.3955-17C>A (n.3955-17C>A)
c.2115-17C>A
c.102-17C>A
n.5627-17C>A
c.4432-17C>A (n.4432-17C>A)
n.242-17C>A
c.4468-17C>A (n.4468-17C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608857C=CA1880360366SPTAN1c.4528-17C= (n.4528-17C=)
c.4492-17C= (n.4492-17C=)
c.3955-17C= (n.3955-17C=)
c.2115-17C=
c.102-17C=
n.5627-17C=
c.4432-17C= (n.4432-17C=)
n.242-17C=
c.4468-17C= (n.4468-17C=)
9g.128608857C>GCA2691934505SPTAN1c.4528-17C>G (n.4528-17C>G)
c.4492-17C>G (n.4492-17C>G)
c.3955-17C>G (n.3955-17C>G)
c.2115-17C>G
c.102-17C>G
n.5627-17C>G
c.4432-17C>G (n.4432-17C>G)
n.242-17C>G
c.4468-17C>G (n.4468-17C>G)
 gnomAD v4
9g.128608858delCA1880360365SPTAN1c.4528-16del (n.4528-16del)
c.4492-16del (n.4492-16del)
c.3955-16del (n.3955-16del)
c.2115-16del
c.102-16del
n.5627-16del
c.4432-16del (n.4432-16del)
n.242-16del
c.4468-16del (n.4468-16del)
 dbSNP gnomAD v4
9g.128608858C=CA1880360367SPTAN1c.4528-16C= (n.4528-16C=)
c.4492-16C= (n.4492-16C=)
c.3955-16C= (n.3955-16C=)
c.2115-16C=
c.102-16C=
n.5627-16C=
c.4432-16C= (n.4432-16C=)
n.242-16C=
c.4468-16C= (n.4468-16C=)
9g.128608858C>GCA200399175SPTAN1c.4528-16C>G (n.4528-16C>G)
c.4492-16C>G (n.4492-16C>G)
c.3955-16C>G (n.3955-16C>G)
c.2115-16C>G
c.102-16C>G
n.5627-16C>G
c.4432-16C>G (n.4432-16C>G)
n.242-16C>G
c.4468-16C>G (n.4468-16C>G)
 dbSNP
9g.128608860_128608861delCA2579470095SPTAN1c.4528-14_4528-13del (n.4528-14_4528-13del)
c.4492-14_4492-13del (n.4492-14_4492-13del)
c.3955-14_3955-13del (n.3955-14_3955-13del)
c.2115-14_2115-13del
c.102-14_102-13del
n.5627-14_5627-13del
c.4432-14_4432-13del (n.4432-14_4432-13del)
n.242-14_242-13del
c.4468-14_4468-13del (n.4468-14_4468-13del)
 gnomAD v4
9g.128608861T>CCA5265198SPTAN1c.4528-13T>C (n.4528-13T>C)
c.4492-13T>C (n.4492-13T>C)
c.3955-13T>C (n.3955-13T>C)
c.2115-13T>C
c.102-13T>C
n.5627-13T>C
c.4432-13T>C (n.4432-13T>C)
n.242-13T>C
c.4468-13T>C (n.4468-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608861T=CA1880360368SPTAN1c.4528-13T= (n.4528-13T=)
c.4492-13T= (n.4492-13T=)
c.3955-13T= (n.3955-13T=)
c.2115-13T=
c.102-13T=
n.5627-13T=
c.4432-13T= (n.4432-13T=)
n.242-13T=
c.4468-13T= (n.4468-13T=)
9g.128608862G>CCA860274691SPTAN1c.4528-12G>C (n.4528-12G>C)
c.4492-12G>C (n.4492-12G>C)
c.3955-12G>C (n.3955-12G>C)
c.2115-12G>C
c.102-12G>C
n.5627-12G>C
c.4432-12G>C (n.4432-12G>C)
n.242-12G>C
c.4468-12G>C (n.4468-12G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.128608862G=CA1880360369SPTAN1c.4528-12G= (n.4528-12G=)
c.4492-12G= (n.4492-12G=)
c.3955-12G= (n.3955-12G=)
c.2115-12G=
c.102-12G=
n.5627-12G=
c.4432-12G= (n.4432-12G=)
n.242-12G=
c.4468-12G= (n.4468-12G=)
9g.128608865T>GCA590941643SPTAN1c.4528-9T>G (n.4528-9T>G)
c.4492-9T>G (n.4492-9T>G)
c.3955-9T>G (n.3955-9T>G)
c.2115-9T>G
c.102-9T>G
n.5627-9T>G
c.4432-9T>G (n.4432-9T>G)
n.242-9T>G
c.4468-9T>G (n.4468-9T>G)
 dbSNP gnomAD v2 gnomAD v4
9g.128608865T=CA1880360370SPTAN1c.4528-9T= (n.4528-9T=)
c.4492-9T= (n.4492-9T=)
c.3955-9T= (n.3955-9T=)
c.2115-9T=
c.102-9T=
n.5627-9T=
c.4432-9T= (n.4432-9T=)
n.242-9T=
c.4468-9T= (n.4468-9T=)
9g.128608866T>CCA5265199SPTAN1c.4528-8T>C (n.4528-8T>C)
c.4492-8T>C (n.4492-8T>C)
c.3955-8T>C (n.3955-8T>C)
c.2115-8T>C
c.102-8T>C
n.5627-8T>C
c.4432-8T>C (n.4432-8T>C)
n.242-8T>C
c.4468-8T>C (n.4468-8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608866T=CA1880360371SPTAN1c.4528-8T= (n.4528-8T=)
c.4492-8T= (n.4492-8T=)
c.3955-8T= (n.3955-8T=)
c.2115-8T=
c.102-8T=
n.5627-8T=
c.4432-8T= (n.4432-8T=)
n.242-8T=
c.4468-8T= (n.4468-8T=)
9g.128608867C>GCA2579470096SPTAN1c.4528-7C>G (n.4528-7C>G)
c.4492-7C>G (n.4492-7C>G)
c.3955-7C>G (n.3955-7C>G)
c.2115-7C>G
c.102-7C>G
n.5627-7C>G
c.4432-7C>G (n.4432-7C>G)
n.242-7C>G
c.4468-7C>G (n.4468-7C>G)
9g.128608868T>CCA2691934506SPTAN1c.4528-6T>C (n.4528-6T>C)
c.4492-6T>C (n.4492-6T>C)
c.3955-6T>C (n.3955-6T>C)
c.2115-6T>C
c.102-6T>C
n.5627-6T>C
c.4432-6T>C (n.4432-6T>C)
n.242-6T>C
c.4468-6T>C (n.4468-6T>C)
 gnomAD v4
9g.128608870A=CA1880360372SPTAN1c.4528-4A= (n.4528-4A=)
c.4492-4A= (n.4492-4A=)
c.3955-4A= (n.3955-4A=)
c.2115-4A=
c.102-4A=
n.5627-4A=
c.4432-4A= (n.4432-4A=)
n.242-4A=
c.4468-4A= (n.4468-4A=)
9g.128608870A>GCA5265200SPTAN1c.4528-4A>G (n.4528-4A>G)
c.4492-4A>G (n.4492-4A>G)
c.3955-4A>G (n.3955-4A>G)
c.2115-4A>G
c.102-4A>G
n.5627-4A>G
c.4432-4A>G (n.4432-4A>G)
n.242-4A>G
c.4468-4A>G (n.4468-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608870A>TCA2691934507SPTAN1c.4528-4A>T (n.4528-4A>T)
c.4492-4A>T (n.4492-4A>T)
c.3955-4A>T (n.3955-4A>T)
c.2115-4A>T
c.102-4A>T
n.5627-4A>T
c.4432-4A>T (n.4432-4A>T)
n.242-4A>T
c.4468-4A>T (n.4468-4A>T)
 gnomAD v4
9g.128608871C>TCA2579470097SPTAN1c.4528-3C>T (n.4528-3C>T)
c.4492-3C>T (n.4492-3C>T)
c.3955-3C>T (n.3955-3C>T)
c.2115-3C>T
c.102-3C>T
n.5627-3C>T
c.4432-3C>T (n.4432-3C>T)
n.242-3C>T
c.4468-3C>T (n.4468-3C>T)
 gnomAD v4
9g.128608872A>CCA375068163SPTAN1c.4528-2A>C (n.4528-2A>C)
c.4492-2A>C (n.4492-2A>C)
c.3955-2A>C (n.3955-2A>C)
c.2115-2A>C
c.102-2A>C
n.5627-2A>C
c.4432-2A>C (n.4432-2A>C)
n.242-2A>C
c.4468-2A>C (n.4468-2A>C)
9g.128608872A>GCA375068166SPTAN1c.4528-2A>G (n.4528-2A>G)
c.4492-2A>G (n.4492-2A>G)
c.3955-2A>G (n.3955-2A>G)
c.2115-2A>G
c.102-2A>G
n.5627-2A>G
c.4432-2A>G (n.4432-2A>G)
n.242-2A>G
c.4468-2A>G (n.4468-2A>G)
9g.128608872A>TCA375068169SPTAN1c.4528-2A>T (n.4528-2A>T)
c.4492-2A>T (n.4492-2A>T)
c.3955-2A>T (n.3955-2A>T)
c.2115-2A>T
c.102-2A>T
n.5627-2A>T
c.4432-2A>T (n.4432-2A>T)
n.242-2A>T
c.4468-2A>T (n.4468-2A>T)
9g.128608872dupCA2691934508SPTAN1c.4528-2dup (n.4528-2dup)
c.4492-2dup (n.4492-2dup)
c.3955-2dup (n.3955-2dup)
c.2115-2dup
c.102-2dup
n.5627-2dup
c.4432-2dup (n.4432-2dup)
n.242-2dup
c.4468-2dup (n.4468-2dup)
 gnomAD v4
9g.128608873G>ACA375068172SPTAN1c.4528-1G>A (n.4528-1G>A)
c.4492-1G>A (n.4492-1G>A)
c.3955-1G>A (n.3955-1G>A)
c.2115-1G>A
c.102-1G>A
n.5627-1G>A
c.4432-1G>A (n.4432-1G>A)
n.242-1G>A
c.4468-1G>A (n.4468-1G>A)
9g.128608873G>CCA375068173SPTAN1c.4528-1G>C (n.4528-1G>C)
c.4492-1G>C (n.4492-1G>C)
c.3955-1G>C (n.3955-1G>C)
c.2115-1G>C
c.102-1G>C
n.5627-1G>C
c.4432-1G>C (n.4432-1G>C)
n.242-1G>C
c.4468-1G>C (n.4468-1G>C)
9g.128608873G>TCA375068175SPTAN1c.4528-1G>T (n.4528-1G>T)
c.4492-1G>T (n.4492-1G>T)
c.3955-1G>T (n.3955-1G>T)
c.2115-1G>T
c.102-1G>T
n.5627-1G>T
c.4432-1G>T (n.4432-1G>T)
n.242-1G>T
c.4468-1G>T (n.4468-1G>T)
9g.128608874G>ACA375068177SPTAN1c.4528G>A (p.Glu1510Lys)
c.4492G>A (p.Glu1498Lys)
c.3955G>A (p.Glu1319Lys)
c.2115G>A
c.102G>A
n.5627G>A
c.4432G>A (p.Glu1478Lys)
n.242G>A
c.4468G>A (p.Glu1490Lys)
9g.128608874G>CCA375068179SPTAN1c.4528G>C (p.Glu1510Gln)
c.4492G>C (p.Glu1498Gln)
c.3955G>C (p.Glu1319Gln)
c.2115G>C
c.102G>C
n.5627G>C
c.4432G>C (p.Glu1478Gln)
n.242G>C
c.4468G>C (p.Glu1490Gln)
9g.128608874G>TCA375068180SPTAN1c.4528G>T (p.Glu1510Ter)
c.4492G>T (p.Glu1498Ter)
c.3955G>T (p.Glu1319Ter)
c.2115G>T
c.102G>T
n.5627G>T
c.4432G>T (p.Glu1478Ter)
n.242G>T
c.4468G>T (p.Glu1490Ter)
9g.128608875A>CCA375068181SPTAN1c.4529A>C (p.Glu1510Ala)
c.4493A>C (p.Glu1498Ala)
c.3956A>C (p.Glu1319Ala)
c.2116A>C
c.103A>C
n.5628A>C
c.4433A>C (p.Glu1478Ala)
n.243A>C
c.4469A>C (p.Glu1490Ala)
9g.128608875A>GCA375068182SPTAN1c.4529A>G (p.Glu1510Gly)
c.4493A>G (p.Glu1498Gly)
c.3956A>G (p.Glu1319Gly)
c.2116A>G
c.103A>G
n.5628A>G
c.4433A>G (p.Glu1478Gly)
n.243A>G
c.4469A>G (p.Glu1490Gly)
 gnomAD v4
9g.128608875A>TCA375068183SPTAN1c.4529A>T (p.Glu1510Val)
c.4493A>T (p.Glu1498Val)
c.3956A>T (p.Glu1319Val)
c.2116A>T
c.103A>T
n.5628A>T
c.4433A>T (p.Glu1478Val)
n.243A>T
c.4469A>T (p.Glu1490Val)
9g.128608876A>CCA375068185SPTAN1c.4530A>C (p.Glu1510Asp)
c.4494A>C (p.Glu1498Asp)
c.3957A>C (p.Glu1319Asp)
c.2117A>C
c.104A>C
n.5629A>C
c.4434A>C (p.Glu1478Asp)
n.244A>C
c.4470A>C (p.Glu1490Asp)
9g.128608876A>GCA467484876SPTAN1c.4530A>G (p.Glu1510=)
c.4494A>G (p.Glu1498=)
c.3957A>G (p.Glu1319=)
c.2117A>G
c.104A>G
n.5629A>G
c.4434A>G (p.Glu1478=)
n.244A>G
c.4470A>G (p.Glu1490=)
9g.128608876A>TCA375068184SPTAN1c.4530A>T (p.Glu1510Asp)
c.4494A>T (p.Glu1498Asp)
c.3957A>T (p.Glu1319Asp)
c.2117A>T
c.104A>T
n.5629A>T
c.4434A>T (p.Glu1478Asp)
n.244A>T
c.4470A>T (p.Glu1490Asp)
9g.128608877G>ACA375068187SPTAN1c.4531G>A (p.Glu1511Lys)
c.4495G>A (p.Glu1499Lys)
c.3958G>A (p.Glu1320Lys)
c.2118G>A
c.105G>A
n.5630G>A
c.4435G>A (p.Glu1479Lys)
n.245G>A
c.4471G>A (p.Glu1491Lys)
9g.128608877G>CCA375068190SPTAN1c.4531G>C (p.Glu1511Gln)
c.4495G>C (p.Glu1499Gln)
c.3958G>C (p.Glu1320Gln)
c.2118G>C
c.105G>C
n.5630G>C
c.4435G>C (p.Glu1479Gln)
n.245G>C
c.4471G>C (p.Glu1491Gln)
9g.128608877G>TCA375068188SPTAN1c.4531G>T (p.Glu1511Ter)
c.4495G>T (p.Glu1499Ter)
c.3958G>T (p.Glu1320Ter)
c.2118G>T
c.105G>T
n.5630G>T
c.4435G>T (p.Glu1479Ter)
n.245G>T
c.4471G>T (p.Glu1491Ter)
9g.128608878A>CCA375068192SPTAN1c.4532A>C (p.Glu1511Ala)
c.4496A>C (p.Glu1499Ala)
c.3959A>C (p.Glu1320Ala)
c.2119A>C
c.106A>C
n.5631A>C
c.4436A>C (p.Glu1479Ala)
n.246A>C
c.4472A>C (p.Glu1491Ala)
9g.128608878A>GCA375068193SPTAN1c.4532A>G (p.Glu1511Gly)
c.4496A>G (p.Glu1499Gly)
c.3959A>G (p.Glu1320Gly)
c.2119A>G
c.106A>G
n.5631A>G
c.4436A>G (p.Glu1479Gly)
n.246A>G
c.4472A>G (p.Glu1491Gly)
9g.128608878A>TCA375068194SPTAN1c.4532A>T (p.Glu1511Val)
c.4496A>T (p.Glu1499Val)
c.3959A>T (p.Glu1320Val)
c.2119A>T
c.106A>T
n.5631A>T
c.4436A>T (p.Glu1479Val)
n.246A>T
c.4472A>T (p.Glu1491Val)
9g.128608879G>ACA5265201SPTAN1c.4533G>A (p.Glu1511=)
c.4497G>A (p.Glu1499=)
c.3960G>A (p.Glu1320=)
c.2120G>A
c.107G>A
n.5632G>A
c.4437G>A (p.Glu1479=)
n.247G>A
c.4473G>A (p.Glu1491=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608879G>CCA375068197SPTAN1c.4533G>C (p.Glu1511Asp)
c.4497G>C (p.Glu1499Asp)
c.3960G>C (p.Glu1320Asp)
c.2120G>C
c.107G>C
n.5632G>C
c.4437G>C (p.Glu1479Asp)
n.247G>C
c.4473G>C (p.Glu1491Asp)
9g.128608879G=CA1880360373SPTAN1c.4533G= (p.Glu1511=)
c.4497G= (p.Glu1499=)
c.3960G= (p.Glu1320=)
c.2120G=
c.107G=
n.5632G=
c.4437G= (p.Glu1479=)
n.247G=
c.4473G= (p.Glu1491=)
9g.128608879G>TCA375068199SPTAN1c.4533G>T (p.Glu1511Asp)
c.4497G>T (p.Glu1499Asp)
c.3960G>T (p.Glu1320Asp)
c.2120G>T
c.107G>T
n.5632G>T
c.4437G>T (p.Glu1479Asp)
n.247G>T
c.4473G>T (p.Glu1491Asp)
9g.128608880A>CCA375068200SPTAN1c.4534A>C (p.Lys1512Gln)
c.4498A>C (p.Lys1500Gln)
c.3961A>C (p.Lys1321Gln)
c.2121A>C
c.108A>C
n.5633A>C
c.4438A>C (p.Lys1480Gln)
n.248A>C
c.4474A>C (p.Lys1492Gln)
9g.128608880A>GCA375068201SPTAN1c.4534A>G (p.Lys1512Glu)
c.4498A>G (p.Lys1500Glu)
c.3961A>G (p.Lys1321Glu)
c.2121A>G
c.108A>G
n.5633A>G
c.4438A>G (p.Lys1480Glu)
n.248A>G
c.4474A>G (p.Lys1492Glu)
9g.128608880A>TCA375068203SPTAN1c.4534A>T (p.Lys1512Ter)
c.4498A>T (p.Lys1500Ter)
c.3961A>T (p.Lys1321Ter)
c.2121A>T
c.108A>T
n.5633A>T
c.4438A>T (p.Lys1480Ter)
n.248A>T
c.4474A>T (p.Lys1492Ter)
9g.128608881A>CCA375068204SPTAN1c.4535A>C (p.Lys1512Thr)
c.4499A>C (p.Lys1500Thr)
c.3962A>C (p.Lys1321Thr)
c.2122A>C
c.109A>C
n.5634A>C
c.4439A>C (p.Lys1480Thr)
n.249A>C
c.4475A>C (p.Lys1492Thr)
9g.128608881A>GCA375068206SPTAN1c.4535A>G (p.Lys1512Arg)
c.4499A>G (p.Lys1500Arg)
c.3962A>G (p.Lys1321Arg)
c.2122A>G
c.109A>G
n.5634A>G
c.4439A>G (p.Lys1480Arg)
n.249A>G
c.4475A>G (p.Lys1492Arg)
9g.128608881A>TCA375068207SPTAN1c.4535A>T (p.Lys1512Met)
c.4499A>T (p.Lys1500Met)
c.3962A>T (p.Lys1321Met)
c.2122A>T
c.109A>T
n.5634A>T
c.4439A>T (p.Lys1480Met)
n.249A>T
c.4475A>T (p.Lys1492Met)
9g.128608882G>ACA467484880SPTAN1c.4536G>A (p.Lys1512=)
c.4500G>A (p.Lys1500=)
c.3963G>A (p.Lys1321=)
c.2123G>A
c.110G>A
n.5635G>A
c.4440G>A (p.Lys1480=)
n.250G>A
c.4476G>A (p.Lys1492=)
9g.128608882G>CCA375068209SPTAN1c.4536G>C (p.Lys1512Asn)
c.4500G>C (p.Lys1500Asn)
c.3963G>C (p.Lys1321Asn)
c.2123G>C
c.110G>C
n.5635G>C
c.4440G>C (p.Lys1480Asn)
n.250G>C
c.4476G>C (p.Lys1492Asn)
9g.128608882G>TCA375068211SPTAN1c.4536G>T (p.Lys1512Asn)
c.4500G>T (p.Lys1500Asn)
c.3963G>T (p.Lys1321Asn)
c.2123G>T
c.110G>T
n.5635G>T
c.4440G>T (p.Lys1480Asn)
n.250G>T
c.4476G>T (p.Lys1492Asn)
9g.128608883A>CCA375068212SPTAN1c.4537A>C (p.Ile1513Leu)
c.4501A>C (p.Ile1501Leu)
c.3964A>C (p.Ile1322Leu)
c.2124A>C
c.111A>C
n.5636A>C
c.4441A>C (p.Ile1481Leu)
n.251A>C
c.4477A>C (p.Ile1493Leu)
9g.128608883A>GCA375068214SPTAN1c.4537A>G (p.Ile1513Val)
c.4501A>G (p.Ile1501Val)
c.3964A>G (p.Ile1322Val)
c.2124A>G
c.111A>G
n.5636A>G
c.4441A>G (p.Ile1481Val)
n.251A>G
c.4477A>G (p.Ile1493Val)
9g.128608883A>TCA375068215SPTAN1c.4537A>T (p.Ile1513Phe)
c.4501A>T (p.Ile1501Phe)
c.3964A>T (p.Ile1322Phe)
c.2124A>T
c.111A>T
n.5636A>T
c.4441A>T (p.Ile1481Phe)
n.251A>T
c.4477A>T (p.Ile1493Phe)
9g.128608884T>ACA375068217SPTAN1c.4538T>A (p.Ile1513Asn)
c.4502T>A (p.Ile1501Asn)
c.3965T>A (p.Ile1322Asn)
c.2125T>A
c.112T>A
n.5637T>A
c.4442T>A (p.Ile1481Asn)
n.252T>A
c.4478T>A (p.Ile1493Asn)
9g.128608884T>CCA375068218SPTAN1c.4538T>C (p.Ile1513Thr)
c.4502T>C (p.Ile1501Thr)
c.3965T>C (p.Ile1322Thr)
c.2125T>C
c.112T>C
n.5637T>C
c.4442T>C (p.Ile1481Thr)
n.252T>C
c.4478T>C (p.Ile1493Thr)
9g.128608884T>GCA375068220SPTAN1c.4538T>G (p.Ile1513Ser)
c.4502T>G (p.Ile1501Ser)
c.3965T>G (p.Ile1322Ser)
c.2125T>G
c.112T>G
n.5637T>G
c.4442T>G (p.Ile1481Ser)
n.252T>G
c.4478T>G (p.Ile1493Ser)
9g.128608885T>ACA467484884SPTAN1c.4539T>A (p.Ile1513=)
c.4503T>A (p.Ile1501=)
c.3966T>A (p.Ile1322=)
c.2126T>A
c.113T>A
n.5638T>A
c.4443T>A (p.Ile1481=)
n.253T>A
c.4479T>A (p.Ile1493=)
 dbSNP
9g.128608885T>CCA467484885SPTAN1c.4539T>C (p.Ile1513=)
c.4503T>C (p.Ile1501=)
c.3966T>C (p.Ile1322=)
c.2126T>C
c.113T>C
n.5638T>C
c.4443T>C (p.Ile1481=)
n.253T>C
c.4479T>C (p.Ile1493=)
9g.128608885T>GCA375068221SPTAN1c.4539T>G (p.Ile1513Met)
c.4503T>G (p.Ile1501Met)
c.3966T>G (p.Ile1322Met)
c.2126T>G
c.113T>G
n.5638T>G
c.4443T>G (p.Ile1481Met)
n.253T>G
c.4479T>G (p.Ile1493Met)
9g.128608885T=CA1880360374SPTAN1c.4539T= (p.Ile1513=)
c.4503T= (p.Ile1501=)
c.3966T= (p.Ile1322=)
c.2126T=
c.113T=
n.5638T=
c.4443T= (p.Ile1481=)
n.253T=
c.4479T= (p.Ile1493=)
9g.128608886G>ACA375068223SPTAN1c.4540G>A (p.Ala1514Thr)
c.4504G>A (p.Ala1502Thr)
c.3967G>A (p.Ala1323Thr)
c.2127G>A
c.114G>A
n.5639G>A
c.4444G>A (p.Ala1482Thr)
n.254G>A
c.4480G>A (p.Ala1494Thr)
9g.128608886G>CCA375068224SPTAN1c.4540G>C (p.Ala1514Pro)
c.4504G>C (p.Ala1502Pro)
c.3967G>C (p.Ala1323Pro)
c.2127G>C
c.114G>C
n.5639G>C
c.4444G>C (p.Ala1482Pro)
n.254G>C
c.4480G>C (p.Ala1494Pro)
9g.128608886G>TCA375068226SPTAN1c.4540G>T (p.Ala1514Ser)
c.4504G>T (p.Ala1502Ser)
c.3967G>T (p.Ala1323Ser)
c.2127G>T
c.114G>T
n.5639G>T
c.4444G>T (p.Ala1482Ser)
n.254G>T
c.4480G>T (p.Ala1494Ser)
9g.128608887C>ACA375068229SPTAN1c.4541C>A (p.Ala1514Asp)
c.4505C>A (p.Ala1502Asp)
c.3968C>A (p.Ala1323Asp)
c.2128C>A
c.115C>A
n.5640C>A
c.4445C>A (p.Ala1482Asp)
n.255C>A
c.4481C>A (p.Ala1494Asp)
9g.128608887C>GCA375068230SPTAN1c.4541C>G (p.Ala1514Gly)
c.4505C>G (p.Ala1502Gly)
c.3968C>G (p.Ala1323Gly)
c.2128C>G
c.115C>G
n.5640C>G
c.4445C>G (p.Ala1482Gly)
n.255C>G
c.4481C>G (p.Ala1494Gly)
9g.128608887C>TCA375068227SPTAN1c.4541C>T (p.Ala1514Val)
c.4505C>T (p.Ala1502Val)
c.3968C>T (p.Ala1323Val)
c.2128C>T
c.115C>T
n.5640C>T
c.4445C>T (p.Ala1482Val)
n.255C>T
c.4481C>T (p.Ala1494Val)
9g.128608888T>ACA467484888SPTAN1c.4542T>A (p.Ala1514=)
c.4506T>A (p.Ala1502=)
c.3969T>A (p.Ala1323=)
c.2129T>A
c.116T>A
n.5641T>A
c.4446T>A (p.Ala1482=)
n.256T>A
c.4482T>A (p.Ala1494=)
9g.128608888T>CCA467484889SPTAN1c.4542T>C (p.Ala1514=)
c.4506T>C (p.Ala1502=)
c.3969T>C (p.Ala1323=)
c.2129T>C
c.116T>C
n.5641T>C
c.4446T>C (p.Ala1482=)
n.256T>C
c.4482T>C (p.Ala1494=)
 dbSNP gnomAD v3 gnomAD v4
9g.128608888T>GCA467484891SPTAN1c.4542T>G (p.Ala1514=)
c.4506T>G (p.Ala1502=)
c.3969T>G (p.Ala1323=)
c.2129T>G
c.116T>G
n.5641T>G
c.4446T>G (p.Ala1482=)
n.256T>G
c.4482T>G (p.Ala1494=)
 gnomAD v4
9g.128608888T=CA1880360375SPTAN1c.4542T= (p.Ala1514=)
c.4506T= (p.Ala1502=)
c.3969T= (p.Ala1323=)
c.2129T=
c.116T=
n.5641T=
c.4446T= (p.Ala1482=)
n.256T=
c.4482T= (p.Ala1494=)
9g.128608889G>ACA375068231SPTAN1c.4543G>A (p.Ala1515Thr)
c.4507G>A (p.Ala1503Thr)
c.3970G>A (p.Ala1324Thr)
c.2130G>A
c.117G>A
n.5642G>A
c.4447G>A (p.Ala1483Thr)
n.257G>A
c.4483G>A (p.Ala1495Thr)
9g.128608889G>CCA375068232SPTAN1c.4543G>C (p.Ala1515Pro)
c.4507G>C (p.Ala1503Pro)
c.3970G>C (p.Ala1324Pro)
c.2130G>C
c.117G>C
n.5642G>C
c.4447G>C (p.Ala1483Pro)
n.257G>C
c.4483G>C (p.Ala1495Pro)
9g.128608889G>TCA375068233SPTAN1c.4543G>T (p.Ala1515Ser)
c.4507G>T (p.Ala1503Ser)
c.3970G>T (p.Ala1324Ser)
c.2130G>T
c.117G>T
n.5642G>T
c.4447G>T (p.Ala1483Ser)
n.257G>T
c.4483G>T (p.Ala1495Ser)
9g.128608890C>ACA375068234SPTAN1c.4544C>A (p.Ala1515Asp)
c.4508C>A (p.Ala1503Asp)
c.3971C>A (p.Ala1324Asp)
c.2131C>A
c.118C>A
n.5643C>A
c.4448C>A (p.Ala1483Asp)
n.258C>A
c.4484C>A (p.Ala1495Asp)
9g.128608890C>GCA375068235SPTAN1c.4544C>G (p.Ala1515Gly)
c.4508C>G (p.Ala1503Gly)
c.3971C>G (p.Ala1324Gly)
c.2131C>G
c.118C>G
n.5643C>G
c.4448C>G (p.Ala1483Gly)
n.258C>G
c.4484C>G (p.Ala1495Gly)
9g.128608890C>TCA375068237SPTAN1c.4544C>T (p.Ala1515Val)
c.4508C>T (p.Ala1503Val)
c.3971C>T (p.Ala1324Val)
c.2131C>T
c.118C>T
n.5643C>T
c.4448C>T (p.Ala1483Val)
n.258C>T
c.4484C>T (p.Ala1495Val)
9g.128608891T>ACA467484894SPTAN1c.4545T>A (p.Ala1515=)
c.4509T>A (p.Ala1503=)
c.3972T>A (p.Ala1324=)
c.2132T>A
c.119T>A
n.5644T>A
c.4449T>A (p.Ala1483=)
n.259T>A
c.4485T>A (p.Ala1495=)
9g.128608891T>CCA467484896SPTAN1c.4545T>C (p.Ala1515=)
c.4509T>C (p.Ala1503=)
c.3972T>C (p.Ala1324=)
c.2132T>C
c.119T>C
n.5644T>C
c.4449T>C (p.Ala1483=)
n.259T>C
c.4485T>C (p.Ala1495=)
9g.128608891T>GCA467484898SPTAN1c.4545T>G (p.Ala1515=)
c.4509T>G (p.Ala1503=)
c.3972T>G (p.Ala1324=)
c.2132T>G
c.119T>G
n.5644T>G
c.4449T>G (p.Ala1483=)
n.259T>G
c.4485T>G (p.Ala1495=)
9g.128608892C>ACA375068240SPTAN1c.4546C>A (p.Leu1516Met)
c.4510C>A (p.Leu1504Met)
c.3973C>A (p.Leu1325Met)
c.2133C>A
c.120C>A
n.5645C>A
c.4450C>A (p.Leu1484Met)
n.260C>A
c.4486C>A (p.Leu1496Met)
9g.128608892C>GCA375068238SPTAN1c.4546C>G (p.Leu1516Val)
c.4510C>G (p.Leu1504Val)
c.3973C>G (p.Leu1325Val)
c.2133C>G
c.120C>G
n.5645C>G
c.4450C>G (p.Leu1484Val)
n.260C>G
c.4486C>G (p.Leu1496Val)
9g.128608892C>TCA467484899SPTAN1c.4546C>T (p.Leu1516=)
c.4510C>T (p.Leu1504=)
c.3973C>T (p.Leu1325=)
c.2133C>T
c.120C>T
n.5645C>T
c.4450C>T (p.Leu1484=)
n.260C>T
c.4486C>T (p.Leu1496=)
9g.128608893T>ACA375068242SPTAN1c.4547T>A (p.Leu1516Gln)
c.4511T>A (p.Leu1504Gln)
c.3974T>A (p.Leu1325Gln)
c.2134T>A
c.121T>A
n.5646T>A
c.4451T>A (p.Leu1484Gln)
n.261T>A
c.4487T>A (p.Leu1496Gln)
 dbSNP gnomAD v3 gnomAD v4
9g.128608893T>CCA375068243SPTAN1c.4547T>C (p.Leu1516Pro)
c.4511T>C (p.Leu1504Pro)
c.3974T>C (p.Leu1325Pro)
c.2134T>C
c.121T>C
n.5646T>C
c.4451T>C (p.Leu1484Pro)
n.261T>C
c.4487T>C (p.Leu1496Pro)
9g.128608893T>GCA375068245SPTAN1c.4547T>G (p.Leu1516Arg)
c.4511T>G (p.Leu1504Arg)
c.3974T>G (p.Leu1325Arg)
c.2134T>G
c.121T>G
n.5646T>G
c.4451T>G (p.Leu1484Arg)
n.261T>G
c.4487T>G (p.Leu1496Arg)
9g.128608893T=CA1880360376SPTAN1c.4547T= (p.Leu1516=)
c.4511T= (p.Leu1504=)
c.3974T= (p.Leu1325=)
c.2134T=
c.121T=
n.5646T=
c.4451T= (p.Leu1484=)
n.261T=
c.4487T= (p.Leu1496=)
9g.128608894G>ACA467484900SPTAN1c.4548G>A (p.Leu1516=)
c.4512G>A (p.Leu1504=)
c.3975G>A (p.Leu1325=)
c.2135G>A
c.122G>A
n.5647G>A
c.4452G>A (p.Leu1484=)
n.262G>A
c.4488G>A (p.Leu1496=)
 gnomAD v4
9g.128608894G>CCA467484902SPTAN1c.4548G>C (p.Leu1516=)
c.4512G>C (p.Leu1504=)
c.3975G>C (p.Leu1325=)
c.2135G>C
c.122G>C
n.5647G>C
c.4452G>C (p.Leu1484=)
n.262G>C
c.4488G>C (p.Leu1496=)
9g.128608894G>TCA467484901SPTAN1c.4548G>T (p.Leu1516=)
c.4512G>T (p.Leu1504=)
c.3975G>T (p.Leu1325=)
c.2135G>T
c.122G>T
n.5647G>T
c.4452G>T (p.Leu1484=)
n.262G>T
c.4488G>T (p.Leu1496=)
 gnomAD v4
9g.128608895C>ACA375068247SPTAN1c.4549C>A (p.Gln1517Lys)
c.4513C>A (p.Gln1505Lys)
c.3976C>A (p.Gln1326Lys)
c.2136C>A
c.123C>A
n.5648C>A
c.4453C>A (p.Gln1485Lys)
n.263C>A
c.4489C>A (p.Gln1497Lys)
9g.128608895C>GCA375068249SPTAN1c.4549C>G (p.Gln1517Glu)
c.4513C>G (p.Gln1505Glu)
c.3976C>G (p.Gln1326Glu)
c.2136C>G
c.123C>G
n.5648C>G
c.4453C>G (p.Gln1485Glu)
n.263C>G
c.4489C>G (p.Gln1497Glu)
9g.128608895C>TCA375068250SPTAN1c.4549C>T (p.Gln1517Ter)
c.4513C>T (p.Gln1505Ter)
c.3976C>T (p.Gln1326Ter)
c.2136C>T
c.123C>T
n.5648C>T
c.4453C>T (p.Gln1485Ter)
n.263C>T
c.4489C>T (p.Gln1497Ter)
9g.128608896A>CCA375068252SPTAN1c.4550A>C (p.Gln1517Pro)
c.4514A>C (p.Gln1505Pro)
c.3977A>C (p.Gln1326Pro)
c.2137A>C
c.124A>C
n.5649A>C
c.4454A>C (p.Gln1485Pro)
n.264A>C
c.4490A>C (p.Gln1497Pro)
9g.128608896A>GCA375068255SPTAN1c.4550A>G (p.Gln1517Arg)
c.4514A>G (p.Gln1505Arg)
c.3977A>G (p.Gln1326Arg)
c.2137A>G
c.124A>G
n.5649A>G
c.4454A>G (p.Gln1485Arg)
n.264A>G
c.4490A>G (p.Gln1497Arg)
9g.128608896A>TCA375068253SPTAN1c.4550A>T (p.Gln1517Leu)
c.4514A>T (p.Gln1505Leu)
c.3977A>T (p.Gln1326Leu)
c.2137A>T
c.124A>T
n.5649A>T
c.4454A>T (p.Gln1485Leu)
n.264A>T
c.4490A>T (p.Gln1497Leu)
 ClinVar dbSNP
9g.128608897G>ACA467484903SPTAN1c.4551G>A (p.Gln1517=)
c.4515G>A (p.Gln1505=)
c.3978G>A (p.Gln1326=)
c.2138G>A
c.125G>A
n.5650G>A
c.4455G>A (p.Gln1485=)
n.265G>A
c.4491G>A (p.Gln1497=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128608897G>CCA375068256SPTAN1c.4551G>C (p.Gln1517His)
c.4515G>C (p.Gln1505His)
c.3978G>C (p.Gln1326His)
c.2138G>C
c.125G>C
n.5650G>C
c.4455G>C (p.Gln1485His)
n.265G>C
c.4491G>C (p.Gln1497His)
9g.128608897G=CA1880360377SPTAN1c.4551G= (p.Gln1517=)
c.4515G= (p.Gln1505=)
c.3978G= (p.Gln1326=)
c.2138G=
c.125G=
n.5650G=
c.4455G= (p.Gln1485=)
n.265G=
c.4491G= (p.Gln1497=)
9g.128608897G>TCA375068258SPTAN1c.4551G>T (p.Gln1517His)
c.4515G>T (p.Gln1505His)
c.3978G>T (p.Gln1326His)
c.2138G>T
c.125G>T
n.5650G>T
c.4455G>T (p.Gln1485His)
n.265G>T
c.4491G>T (p.Gln1497His)
 COSMIC
9g.128608898G>ACA375068259SPTAN1c.4552G>A (p.Ala1518Thr)
c.4516G>A (p.Ala1506Thr)
c.3979G>A (p.Ala1327Thr)
c.2139G>A
c.126G>A
n.5651G>A
c.4456G>A (p.Ala1486Thr)
n.266G>A
c.4492G>A (p.Ala1498Thr)
9g.128608898G>CCA375068260SPTAN1c.4552G>C (p.Ala1518Pro)
c.4516G>C (p.Ala1506Pro)
c.3979G>C (p.Ala1327Pro)
c.2139G>C
c.126G>C
n.5651G>C
c.4456G>C (p.Ala1486Pro)
n.266G>C
c.4492G>C (p.Ala1498Pro)
9g.128608898G>TCA375068262SPTAN1c.4552G>T (p.Ala1518Ser)
c.4516G>T (p.Ala1506Ser)
c.3979G>T (p.Ala1327Ser)
c.2139G>T
c.126G>T
n.5651G>T
c.4456G>T (p.Ala1486Ser)
n.266G>T
c.4492G>T (p.Ala1498Ser)
9g.128608899C>ACA375068263SPTAN1c.4553C>A (p.Ala1518Asp)
c.4517C>A (p.Ala1506Asp)
c.3980C>A (p.Ala1327Asp)
c.2140C>A
c.127C>A
n.5652C>A
c.4457C>A (p.Ala1486Asp)
n.267C>A
c.4493C>A (p.Ala1498Asp)
9g.128608899C=CA1880360378SPTAN1c.4553C= (p.Ala1518=)
c.4517C= (p.Ala1506=)
c.3980C= (p.Ala1327=)
c.2140C=
c.127C=
n.5652C=
c.4457C= (p.Ala1486=)
n.267C=
c.4493C= (p.Ala1498=)
9g.128608899C>GCA375068264SPTAN1c.4553C>G (p.Ala1518Gly)
c.4517C>G (p.Ala1506Gly)
c.3980C>G (p.Ala1327Gly)
c.2140C>G
c.127C>G
n.5652C>G
c.4457C>G (p.Ala1486Gly)
n.267C>G
c.4493C>G (p.Ala1498Gly)
9g.128608899C>TCA375068266SPTAN1c.4553C>T (p.Ala1518Val)
c.4517C>T (p.Ala1506Val)
c.3980C>T (p.Ala1327Val)
c.2140C>T
c.127C>T
n.5652C>T
c.4457C>T (p.Ala1486Val)
n.267C>T
c.4493C>T (p.Ala1498Val)
 dbSNP
9g.128608900C>ACA467484904SPTAN1c.4554C>A (p.Ala1518=)
c.4518C>A (p.Ala1506=)
c.3981C>A (p.Ala1327=)
c.2141C>A
c.128C>A
n.5653C>A
c.4458C>A (p.Ala1486=)
n.268C>A
c.4494C>A (p.Ala1498=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128608900C=CA1880360379SPTAN1c.4554C= (p.Ala1518=)
c.4518C= (p.Ala1506=)
c.3981C= (p.Ala1327=)
c.2141C=
c.128C=
n.5653C=
c.4458C= (p.Ala1486=)
n.268C=
c.4494C= (p.Ala1498=)
9g.128608900C>GCA467484905SPTAN1c.4554C>G (p.Ala1518=)
c.4518C>G (p.Ala1506=)
c.3981C>G (p.Ala1327=)
c.2141C>G
c.128C>G
n.5653C>G
c.4458C>G (p.Ala1486=)
n.268C>G
c.4494C>G (p.Ala1498=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.128608900C>TCA5265202SPTAN1c.4554C>T (p.Ala1518=)
c.4518C>T (p.Ala1506=)
c.3981C>T (p.Ala1327=)
c.2141C>T
c.128C>T
n.5653C>T
c.4458C>T (p.Ala1486=)
n.268C>T
c.4494C>T (p.Ala1498=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608901T>ACA375068267SPTAN1c.4555T>A (p.Phe1519Ile)
c.4519T>A (p.Phe1507Ile)
c.3982T>A (p.Phe1328Ile)
c.2142T>A
c.129T>A
n.5654T>A
c.4459T>A (p.Phe1487Ile)
n.269T>A
c.4495T>A (p.Phe1499Ile)
9g.128608901T>CCA375068268SPTAN1c.4555T>C (p.Phe1519Leu)
c.4519T>C (p.Phe1507Leu)
c.3982T>C (p.Phe1328Leu)
c.2142T>C
c.129T>C
n.5654T>C
c.4459T>C (p.Phe1487Leu)
n.269T>C
c.4495T>C (p.Phe1499Leu)
9g.128608901T>GCA375068269SPTAN1c.4555T>G (p.Phe1519Val)
c.4519T>G (p.Phe1507Val)
c.3982T>G (p.Phe1328Val)
c.2142T>G
c.129T>G
n.5654T>G
c.4459T>G (p.Phe1487Val)
n.269T>G
c.4495T>G (p.Phe1499Val)
9g.128608902T>ACA375068272SPTAN1c.4556T>A (p.Phe1519Tyr)
c.4520T>A (p.Phe1507Tyr)
c.3983T>A (p.Phe1328Tyr)
c.2143T>A
c.130T>A
n.5655T>A
c.4460T>A (p.Phe1487Tyr)
n.270T>A
c.4496T>A (p.Phe1499Tyr)
9g.128608902T>CCA375068274SPTAN1c.4556T>C (p.Phe1519Ser)
c.4520T>C (p.Phe1507Ser)
c.3983T>C (p.Phe1328Ser)
c.2143T>C
c.130T>C
n.5655T>C
c.4460T>C (p.Phe1487Ser)
n.270T>C
c.4496T>C (p.Phe1499Ser)
9g.128608902T>GCA375068270SPTAN1c.4556T>G (p.Phe1519Cys)
c.4520T>G (p.Phe1507Cys)
c.3983T>G (p.Phe1328Cys)
c.2143T>G
c.130T>G
n.5655T>G
c.4460T>G (p.Phe1487Cys)
n.270T>G
c.4496T>G (p.Phe1499Cys)
9g.128608903T>ACA375068276SPTAN1c.4557T>A (p.Phe1519Leu)
c.4521T>A (p.Phe1507Leu)
c.3984T>A (p.Phe1328Leu)
c.2144T>A
c.131T>A
n.5656T>A
c.4461T>A (p.Phe1487Leu)
n.271T>A
c.4497T>A (p.Phe1499Leu)
9g.128608903T>CCA467484906SPTAN1c.4557T>C (p.Phe1519=)
c.4521T>C (p.Phe1507=)
c.3984T>C (p.Phe1328=)
c.2144T>C
c.131T>C
n.5656T>C
c.4461T>C (p.Phe1487=)
n.271T>C
c.4497T>C (p.Phe1499=)
9g.128608903T>GCA375068275SPTAN1c.4557T>G (p.Phe1519Leu)
c.4521T>G (p.Phe1507Leu)
c.3984T>G (p.Phe1328Leu)
c.2144T>G
c.131T>G
n.5656T>G
c.4461T>G (p.Phe1487Leu)
n.271T>G
c.4497T>G (p.Phe1499Leu)
9g.128608904G>ACA375068281SPTAN1c.4558G>A (p.Ala1520Thr)
c.4522G>A (p.Ala1508Thr)
c.3985G>A (p.Ala1329Thr)
c.2145G>A
c.132G>A
n.5657G>A
c.4462G>A (p.Ala1488Thr)
n.272G>A
c.4498G>A (p.Ala1500Thr)
9g.128608904G>CCA375068278SPTAN1c.4558G>C (p.Ala1520Pro)
c.4522G>C (p.Ala1508Pro)
c.3985G>C (p.Ala1329Pro)
c.2145G>C
c.132G>C
n.5657G>C
c.4462G>C (p.Ala1488Pro)
n.272G>C
c.4498G>C (p.Ala1500Pro)
9g.128608904G>TCA375068279SPTAN1c.4558G>T (p.Ala1520Ser)
c.4522G>T (p.Ala1508Ser)
c.3985G>T (p.Ala1329Ser)
c.2145G>T
c.132G>T
n.5657G>T
c.4462G>T (p.Ala1488Ser)
n.272G>T
c.4498G>T (p.Ala1500Ser)
9g.128608905C>ACA375068282SPTAN1c.4559C>A (p.Ala1520Asp)
c.4523C>A (p.Ala1508Asp)
c.3986C>A (p.Ala1329Asp)
c.2146C>A
c.133C>A
n.5658C>A
c.4463C>A (p.Ala1488Asp)
n.273C>A
c.4499C>A (p.Ala1500Asp)
9g.128608905C>GCA375068284SPTAN1c.4559C>G (p.Ala1520Gly)
c.4523C>G (p.Ala1508Gly)
c.3986C>G (p.Ala1329Gly)
c.2146C>G
c.133C>G
n.5658C>G
c.4463C>G (p.Ala1488Gly)
n.273C>G
c.4499C>G (p.Ala1500Gly)
9g.128608905C>TCA375068285SPTAN1c.4559C>T (p.Ala1520Val)
c.4523C>T (p.Ala1508Val)
c.3986C>T (p.Ala1329Val)
c.2146C>T
c.133C>T
n.5658C>T
c.4463C>T (p.Ala1488Val)
n.273C>T
c.4499C>T (p.Ala1500Val)
9g.128608906C>ACA467484907SPTAN1c.4560C>A (p.Ala1520=)
c.4524C>A (p.Ala1508=)
c.3987C>A (p.Ala1329=)
c.2147C>A
c.134C>A
n.5659C>A
c.4464C>A (p.Ala1488=)
n.274C>A
c.4500C>A (p.Ala1500=)
9g.128608906C=CA1880360380SPTAN1c.4560C= (p.Ala1520=)
c.4524C= (p.Ala1508=)
c.3987C= (p.Ala1329=)
c.2147C=
c.134C=
n.5659C=
c.4464C= (p.Ala1488=)
n.274C=
c.4500C= (p.Ala1500=)
9g.128608906C>GCA467484908SPTAN1c.4560C>G (p.Ala1520=)
c.4524C>G (p.Ala1508=)
c.3987C>G (p.Ala1329=)
c.2147C>G
c.134C>G
n.5659C>G
c.4464C>G (p.Ala1488=)
n.274C>G
c.4500C>G (p.Ala1500=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128608906C>TCA5265203SPTAN1c.4560C>T (p.Ala1520=)
c.4524C>T (p.Ala1508=)
c.3987C>T (p.Ala1329=)
c.2147C>T
c.134C>T
n.5659C>T
c.4464C>T (p.Ala1488=)
n.274C>T
c.4500C>T (p.Ala1500=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608907G>ACA318705SPTAN1c.4561G>A (p.Asp1521Asn)
c.4525G>A (p.Asp1509Asn)
c.3988G>A (p.Asp1330Asn)
c.2148G>A
c.135G>A
n.5660G>A
c.4465G>A (p.Asp1489Asn)
n.275G>A
c.4501G>A (p.Asp1501Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608907G>CCA375068287SPTAN1c.4561G>C (p.Asp1521His)
c.4525G>C (p.Asp1509His)
c.3988G>C (p.Asp1330His)
c.2148G>C
c.135G>C
n.5660G>C
c.4465G>C (p.Asp1489His)
n.275G>C
c.4501G>C (p.Asp1501His)
9g.128608907G=CA1880360381SPTAN1c.4561G= (p.Asp1521=)
c.4525G= (p.Asp1509=)
c.3988G= (p.Asp1330=)
c.2148G=
c.135G=
n.5660G=
c.4465G= (p.Asp1489=)
n.275G=
c.4501G= (p.Asp1501=)
9g.128608907G>TCA375068288SPTAN1c.4561G>T (p.Asp1521Tyr)
c.4525G>T (p.Asp1509Tyr)
c.3988G>T (p.Asp1330Tyr)
c.2148G>T
c.135G>T
n.5660G>T
c.4465G>T (p.Asp1489Tyr)
n.275G>T
c.4501G>T (p.Asp1501Tyr)
 gnomAD v4
9g.128608908A>CCA375068290SPTAN1c.4562A>C (p.Asp1521Ala)
c.4526A>C (p.Asp1509Ala)
c.3989A>C (p.Asp1330Ala)
c.2149A>C
c.136A>C
n.5661A>C
c.4466A>C (p.Asp1489Ala)
n.276A>C
c.4502A>C (p.Asp1501Ala)
9g.128608908A>GCA375068291SPTAN1c.4562A>G (p.Asp1521Gly)
c.4526A>G (p.Asp1509Gly)
c.3989A>G (p.Asp1330Gly)
c.2149A>G
c.136A>G
n.5661A>G
c.4466A>G (p.Asp1489Gly)
n.276A>G
c.4502A>G (p.Asp1501Gly)
 ClinVar
9g.128608908A>TCA375068292SPTAN1c.4562A>T (p.Asp1521Val)
c.4526A>T (p.Asp1509Val)
c.3989A>T (p.Asp1330Val)
c.2149A>T
c.136A>T
n.5661A>T
c.4466A>T (p.Asp1489Val)
n.276A>T
c.4502A>T (p.Asp1501Val)
9g.128608909C>ACA318620SPTAN1c.4563C>A (p.Asp1521Glu)
c.4527C>A (p.Asp1509Glu)
c.3990C>A (p.Asp1330Glu)
c.2150C>A
c.137C>A
n.5662C>A
c.4467C>A (p.Asp1489Glu)
n.277C>A
c.4503C>A (p.Asp1501Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608909C=CA1880360382SPTAN1c.4563C= (p.Asp1521=)
c.4527C= (p.Asp1509=)
c.3990C= (p.Asp1330=)
c.2150C=
c.137C=
n.5662C=
c.4467C= (p.Asp1489=)
n.277C=
c.4503C= (p.Asp1501=)
9g.128608909C>GCA375068294SPTAN1c.4563C>G (p.Asp1521Glu)
c.4527C>G (p.Asp1509Glu)
c.3990C>G (p.Asp1330Glu)
c.2150C>G
c.137C>G
n.5662C>G
c.4467C>G (p.Asp1489Glu)
n.277C>G
c.4503C>G (p.Asp1501Glu)
9g.128608909C>TCA467484909SPTAN1c.4563C>T (p.Asp1521=)
c.4527C>T (p.Asp1509=)
c.3990C>T (p.Asp1330=)
c.2150C>T
c.137C>T
n.5662C>T
c.4467C>T (p.Asp1489=)
n.277C>T
c.4503C>T (p.Asp1501=)
 gnomAD v4
9g.128608910C>ACA375068295SPTAN1c.4564C>A (p.Gln1522Lys)
c.4528C>A (p.Gln1510Lys)
c.3991C>A (p.Gln1331Lys)
c.2151C>A
c.138C>A
n.5663C>A
c.4468C>A (p.Gln1490Lys)
n.278C>A
c.4504C>A (p.Gln1502Lys)
9g.128608910C>GCA375068299SPTAN1c.4564C>G (p.Gln1522Glu)
c.4528C>G (p.Gln1510Glu)
c.3991C>G (p.Gln1331Glu)
c.2151C>G
c.138C>G
n.5663C>G
c.4468C>G (p.Gln1490Glu)
n.278C>G
c.4504C>G (p.Gln1502Glu)
9g.128608910C>TCA375068297SPTAN1c.4564C>T (p.Gln1522Ter)
c.4528C>T (p.Gln1510Ter)
c.3991C>T (p.Gln1331Ter)
c.2151C>T
c.138C>T
n.5663C>T
c.4468C>T (p.Gln1490Ter)
n.278C>T
c.4504C>T (p.Gln1502Ter)
9g.128608911A>CCA375068300SPTAN1c.4565A>C (p.Gln1522Pro)
c.4529A>C (p.Gln1510Pro)
c.3992A>C (p.Gln1331Pro)
c.2152A>C
c.139A>C
n.5664A>C
c.4469A>C (p.Gln1490Pro)
n.279A>C
c.4505A>C (p.Gln1502Pro)
 COSMIC COSMIC
9g.128608911A>GCA375068301SPTAN1c.4565A>G (p.Gln1522Arg)
c.4529A>G (p.Gln1510Arg)
c.3992A>G (p.Gln1331Arg)
c.2152A>G
c.139A>G
n.5664A>G
c.4469A>G (p.Gln1490Arg)
n.279A>G
c.4505A>G (p.Gln1502Arg)
9g.128608911A>TCA375068303SPTAN1c.4565A>T (p.Gln1522Leu)
c.4529A>T (p.Gln1510Leu)
c.3992A>T (p.Gln1331Leu)
c.2152A>T
c.139A>T
n.5664A>T
c.4469A>T (p.Gln1490Leu)
n.279A>T
c.4505A>T (p.Gln1502Leu)
9g.128608912G>ACA467484910SPTAN1c.4566G>A (p.Gln1522=)
c.4530G>A (p.Gln1510=)
c.3993G>A (p.Gln1331=)
c.2153G>A
c.140G>A
n.5665G>A
c.4470G>A (p.Gln1490=)
n.280G>A
c.4506G>A (p.Gln1502=)
 dbSNP
9g.128608912G>CCA375068305SPTAN1c.4566G>C (p.Gln1522His)
c.4530G>C (p.Gln1510His)
c.3993G>C (p.Gln1331His)
c.2153G>C
c.140G>C
n.5665G>C
c.4470G>C (p.Gln1490His)
n.280G>C
c.4506G>C (p.Gln1502His)
9g.128608912G=CA1880360383SPTAN1c.4566G= (p.Gln1522=)
c.4530G= (p.Gln1510=)
c.3993G= (p.Gln1331=)
c.2153G=
c.140G=
n.5665G=
c.4470G= (p.Gln1490=)
n.280G=
c.4506G= (p.Gln1502=)
9g.128608912G>TCA375068306SPTAN1c.4566G>T (p.Gln1522His)
c.4530G>T (p.Gln1510His)
c.3993G>T (p.Gln1331His)
c.2153G>T
c.140G>T
n.5665G>T
c.4470G>T (p.Gln1490His)
n.280G>T
c.4506G>T (p.Gln1502His)
9g.128608913C>ACA375068308SPTAN1c.4567C>A (p.Leu1523Ile)
c.4531C>A (p.Leu1511Ile)
c.3994C>A (p.Leu1332Ile)
c.2154C>A
c.141C>A
n.5666C>A
c.4471C>A (p.Leu1491Ile)
n.281C>A
c.4507C>A (p.Leu1503Ile)
9g.128608913C>GCA375068309SPTAN1c.4567C>G (p.Leu1523Val)
c.4531C>G (p.Leu1511Val)
c.3994C>G (p.Leu1332Val)
c.2154C>G
c.141C>G
n.5666C>G
c.4471C>G (p.Leu1491Val)
n.281C>G
c.4507C>G (p.Leu1503Val)
9g.128608913C>TCA375068310SPTAN1c.4567C>T (p.Leu1523Phe)
c.4531C>T (p.Leu1511Phe)
c.3994C>T (p.Leu1332Phe)
c.2154C>T
c.141C>T
n.5666C>T
c.4471C>T (p.Leu1491Phe)
n.281C>T
c.4507C>T (p.Leu1503Phe)
9g.128608914T>ACA375068311SPTAN1c.4568T>A (p.Leu1523His)
c.4532T>A (p.Leu1511His)
c.3995T>A (p.Leu1332His)
c.2155T>A
c.142T>A
n.5667T>A
c.4472T>A (p.Leu1491His)
n.282T>A
c.4508T>A (p.Leu1503His)
9g.128608914T>CCA5265204SPTAN1c.4568T>C (p.Leu1523Pro)
c.4532T>C (p.Leu1511Pro)
c.3995T>C (p.Leu1332Pro)
c.2155T>C
c.142T>C
n.5667T>C
c.4472T>C (p.Leu1491Pro)
n.282T>C
c.4508T>C (p.Leu1503Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608914T>GCA375068313SPTAN1c.4568T>G (p.Leu1523Arg)
c.4532T>G (p.Leu1511Arg)
c.3995T>G (p.Leu1332Arg)
c.2155T>G
c.142T>G
n.5667T>G
c.4472T>G (p.Leu1491Arg)
n.282T>G
c.4508T>G (p.Leu1503Arg)
9g.128608914T=CA1880360384SPTAN1c.4568T= (p.Leu1523=)
c.4532T= (p.Leu1511=)
c.3995T= (p.Leu1332=)
c.2155T=
c.142T=
n.5667T=
c.4472T= (p.Leu1491=)
n.282T=
c.4508T= (p.Leu1503=)
9g.128608915C>ACA467484911SPTAN1c.4569C>A (p.Leu1523=)
c.4533C>A (p.Leu1511=)
c.3996C>A (p.Leu1332=)
c.2156C>A
c.143C>A
n.5668C>A
c.4473C>A (p.Leu1491=)
n.283C>A
c.4509C>A (p.Leu1503=)
 gnomAD v4
9g.128608915C=CA1880360385SPTAN1c.4569C= (p.Leu1523=)
c.4533C= (p.Leu1511=)
c.3996C= (p.Leu1332=)
c.2156C=
c.143C=
n.5668C=
c.4473C= (p.Leu1491=)
n.283C=
c.4509C= (p.Leu1503=)
9g.128608915C>GCA200399194SPTAN1c.4569C>G (p.Leu1523=)
c.4533C>G (p.Leu1511=)
c.3996C>G (p.Leu1332=)
c.2156C>G
c.143C>G
n.5668C>G
c.4473C>G (p.Leu1491=)
n.283C>G
c.4509C>G (p.Leu1503=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128608915C>TCA5265205SPTAN1c.4569C>T (p.Leu1523=)
c.4533C>T (p.Leu1511=)
c.3996C>T (p.Leu1332=)
c.2156C>T
c.143C>T
n.5668C>T
c.4473C>T (p.Leu1491=)
n.283C>T
c.4509C>T (p.Leu1503=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608916A>CCA375068320SPTAN1c.4570A>C (p.Ile1524Leu)
c.4534A>C (p.Ile1512Leu)
c.3997A>C (p.Ile1333Leu)
c.2157A>C
c.144A>C
n.5669A>C
c.4474A>C (p.Ile1492Leu)
n.284A>C
c.4510A>C (p.Ile1504Leu)
9g.128608916A>GCA375068322SPTAN1c.4570A>G (p.Ile1524Val)
c.4534A>G (p.Ile1512Val)
c.3997A>G (p.Ile1333Val)
c.2157A>G
c.144A>G
n.5669A>G
c.4474A>G (p.Ile1492Val)
n.284A>G
c.4510A>G (p.Ile1504Val)
9g.128608916A>TCA375068323SPTAN1c.4570A>T (p.Ile1524Phe)
c.4534A>T (p.Ile1512Phe)
c.3997A>T (p.Ile1333Phe)
c.2157A>T
c.144A>T
n.5669A>T
c.4474A>T (p.Ile1492Phe)
n.284A>T
c.4510A>T (p.Ile1504Phe)
9g.128608917T>ACA200399196SPTAN1c.4571T>A (p.Ile1524Asn)
c.4535T>A (p.Ile1512Asn)
c.3998T>A (p.Ile1333Asn)
c.2158T>A
c.145T>A
n.5670T>A
c.4475T>A (p.Ile1492Asn)
n.285T>A
c.4511T>A (p.Ile1504Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128608917T>CCA375068325SPTAN1c.4571T>C (p.Ile1524Thr)
c.4535T>C (p.Ile1512Thr)
c.3998T>C (p.Ile1333Thr)
c.2158T>C
c.145T>C
n.5670T>C
c.4475T>C (p.Ile1492Thr)
n.285T>C
c.4511T>C (p.Ile1504Thr)
9g.128608917T>GCA375068327SPTAN1c.4571T>G (p.Ile1524Ser)
c.4535T>G (p.Ile1512Ser)
c.3998T>G (p.Ile1333Ser)
c.2158T>G
c.145T>G
n.5670T>G
c.4475T>G (p.Ile1492Ser)
n.285T>G
c.4511T>G (p.Ile1504Ser)
9g.128608917T=CA1880360386SPTAN1c.4571T= (p.Ile1524=)
c.4535T= (p.Ile1512=)
c.3998T= (p.Ile1333=)
c.2158T=
c.145T=
n.5670T=
c.4475T= (p.Ile1492=)
n.285T=
c.4511T= (p.Ile1504=)
9g.128608918C>ACA467484912SPTAN1c.4572C>A (p.Ile1524=)
c.4536C>A (p.Ile1512=)
c.3999C>A (p.Ile1333=)
c.2159C>A
c.146C>A
n.5671C>A
c.4476C>A (p.Ile1492=)
n.286C>A
c.4512C>A (p.Ile1504=)
 gnomAD v4
9g.128608918C=CA1880360387SPTAN1c.4572C= (p.Ile1524=)
c.4536C= (p.Ile1512=)
c.3999C= (p.Ile1333=)
c.2159C=
c.146C=
n.5671C=
c.4476C= (p.Ile1492=)
n.286C=
c.4512C= (p.Ile1504=)
9g.128608918C>GCA375068329SPTAN1c.4572C>G (p.Ile1524Met)
c.4536C>G (p.Ile1512Met)
c.3999C>G (p.Ile1333Met)
c.2159C>G
c.146C>G
n.5671C>G
c.4476C>G (p.Ile1492Met)
n.286C>G
c.4512C>G (p.Ile1504Met)
9g.128608918C>TCA5265206SPTAN1c.4572C>T (p.Ile1524=)
c.4536C>T (p.Ile1512=)
c.3999C>T (p.Ile1333=)
c.2159C>T
c.146C>T
n.5671C>T
c.4476C>T (p.Ile1492=)
n.286C>T
c.4512C>T (p.Ile1504=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608919G>ACA5265207SPTAN1c.4573G>A (p.Ala1525Thr)
c.4537G>A (p.Ala1513Thr)
c.4000G>A (p.Ala1334Thr)
c.2160G>A
c.147G>A
n.5672G>A
c.4477G>A (p.Ala1493Thr)
n.287G>A
c.4513G>A (p.Ala1505Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128608919G>CCA375068330SPTAN1c.4573G>C (p.Ala1525Pro)
c.4537G>C (p.Ala1513Pro)
c.4000G>C (p.Ala1334Pro)
c.2160G>C
c.147G>C
n.5672G>C
c.4477G>C (p.Ala1493Pro)
n.287G>C
c.4513G>C (p.Ala1505Pro)
 gnomAD v4
9g.128608919G=CA1880360388SPTAN1c.4573G= (p.Ala1525=)
c.4537G= (p.Ala1513=)
c.4000G= (p.Ala1334=)
c.2160G=
c.147G=
n.5672G=
c.4477G= (p.Ala1493=)
n.287G=
c.4513G= (p.Ala1505=)
9g.128608919G>TCA375068332SPTAN1c.4573G>T (p.Ala1525Ser)
c.4537G>T (p.Ala1513Ser)
c.4000G>T (p.Ala1334Ser)
c.2160G>T
c.147G>T
n.5672G>T
c.4477G>T (p.Ala1493Ser)
n.287G>T
c.4513G>T (p.Ala1505Ser)
9g.128608920C>ACA375068334SPTAN1c.4574C>A (p.Ala1525Asp)
c.4538C>A (p.Ala1513Asp)
c.4001C>A (p.Ala1334Asp)
c.2161C>A
c.148C>A
n.5673C>A
c.4478C>A (p.Ala1493Asp)
n.288C>A
c.4514C>A (p.Ala1505Asp)
9g.128608920C>GCA375068336SPTAN1c.4574C>G (p.Ala1525Gly)
c.4538C>G (p.Ala1513Gly)
c.4001C>G (p.Ala1334Gly)
c.2161C>G
c.148C>G
n.5673C>G
c.4478C>G (p.Ala1493Gly)
n.288C>G
c.4514C>G (p.Ala1505Gly)
 gnomAD v4
9g.128608920C>TCA375068337SPTAN1c.4574C>T (p.Ala1525Val)
c.4538C>T (p.Ala1513Val)
c.4001C>T (p.Ala1334Val)
c.2161C>T
c.148C>T
n.5673C>T
c.4478C>T (p.Ala1493Val)
n.288C>T
c.4514C>T (p.Ala1505Val)
9g.128608921T>ACA467484913SPTAN1c.4575T>A (p.Ala1525=)
c.4539T>A (p.Ala1513=)
c.4002T>A (p.Ala1334=)
c.2162T>A
c.149T>A
n.5674T>A
c.4479T>A (p.Ala1493=)
n.289T>A
c.4515T>A (p.Ala1505=)
9g.128608921T>CCA467484914SPTAN1c.4575T>C (p.Ala1525=)
c.4539T>C (p.Ala1513=)
c.4002T>C (p.Ala1334=)
c.2162T>C
c.149T>C
n.5674T>C
c.4479T>C (p.Ala1493=)
n.289T>C
c.4515T>C (p.Ala1505=)
9g.128608921T>GCA467484915SPTAN1c.4575T>G (p.Ala1525=)
c.4539T>G (p.Ala1513=)
c.4002T>G (p.Ala1334=)
c.2162T>G
c.149T>G
n.5674T>G
c.4479T>G (p.Ala1493=)
n.289T>G
c.4515T>G (p.Ala1505=)
9g.128608922G>ACA5265208SPTAN1c.4576G>A (p.Ala1526Thr)
c.4540G>A (p.Ala1514Thr)
c.4003G>A (p.Ala1335Thr)
c.2163G>A
c.150G>A
n.5675G>A
c.4480G>A (p.Ala1494Thr)
n.290G>A
c.4516G>A (p.Ala1506Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608922G>CCA375068339SPTAN1c.4576G>C (p.Ala1526Pro)
c.4540G>C (p.Ala1514Pro)
c.4003G>C (p.Ala1335Pro)
c.2163G>C
c.150G>C
n.5675G>C
c.4480G>C (p.Ala1494Pro)
n.290G>C
c.4516G>C (p.Ala1506Pro)
9g.128608922G=CA1880360389SPTAN1c.4576G= (p.Ala1526=)
c.4540G= (p.Ala1514=)
c.4003G= (p.Ala1335=)
c.2163G=
c.150G=
n.5675G=
c.4480G= (p.Ala1494=)
n.290G=
c.4516G= (p.Ala1506=)
9g.128608922G>TCA375068338SPTAN1c.4576G>T (p.Ala1526Ser)
c.4540G>T (p.Ala1514Ser)
c.4003G>T (p.Ala1335Ser)
c.2163G>T
c.150G>T
n.5675G>T
c.4480G>T (p.Ala1494Ser)
n.290G>T
c.4516G>T (p.Ala1506Ser)
9g.128608923C>ACA375068340SPTAN1c.4577C>A (p.Ala1526Asp)
c.4541C>A (p.Ala1514Asp)
c.4004C>A (p.Ala1335Asp)
c.2164C>A
c.151C>A
n.5676C>A
c.4481C>A (p.Ala1494Asp)
n.291C>A
c.4517C>A (p.Ala1506Asp)
9g.128608923C>GCA375068341SPTAN1c.4577C>G (p.Ala1526Gly)
c.4541C>G (p.Ala1514Gly)
c.4004C>G (p.Ala1335Gly)
c.2164C>G
c.151C>G
n.5676C>G
c.4481C>G (p.Ala1494Gly)
n.291C>G
c.4517C>G (p.Ala1506Gly)
9g.128608923C>TCA375068343SPTAN1c.4577C>T (p.Ala1526Val)
c.4541C>T (p.Ala1514Val)
c.4004C>T (p.Ala1335Val)
c.2164C>T
c.151C>T
n.5676C>T
c.4481C>T (p.Ala1494Val)
n.291C>T
c.4517C>T (p.Ala1506Val)
 gnomAD v4
9g.128608924C>ACA467484916SPTAN1c.4578C>A (p.Ala1526=)
c.4542C>A (p.Ala1514=)
c.4005C>A (p.Ala1335=)
c.2165C>A
c.152C>A
n.5677C>A
c.4482C>A (p.Ala1494=)
n.292C>A
c.4518C>A (p.Ala1506=)
9g.128608924C=CA1880360390SPTAN1c.4578C= (p.Ala1526=)
c.4542C= (p.Ala1514=)
c.4005C= (p.Ala1335=)
c.2165C=
c.152C=
n.5677C=
c.4482C= (p.Ala1494=)
n.292C=
c.4518C= (p.Ala1506=)
9g.128608924C>GCA467484917SPTAN1c.4578C>G (p.Ala1526=)
c.4542C>G (p.Ala1514=)
c.4005C>G (p.Ala1335=)
c.2165C>G
c.152C>G
n.5677C>G
c.4482C>G (p.Ala1494=)
n.292C>G
c.4518C>G (p.Ala1506=)
9g.128608924C>TCA5265209SPTAN1c.4578C>T (p.Ala1526=)
c.4542C>T (p.Ala1514=)
c.4005C>T (p.Ala1335=)
c.2165C>T
c.152C>T
n.5677C>T
c.4482C>T (p.Ala1494=)
n.292C>T
c.4518C>T (p.Ala1506=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128608925G>ACA5265210SPTAN1c.4579G>A (p.Gly1527Ser)
c.4543G>A (p.Gly1515Ser)
c.4006G>A (p.Gly1336Ser)
c.2166G>A
c.153G>A
n.5678G>A
c.4483G>A (p.Gly1495Ser)
n.293G>A
c.4519G>A (p.Gly1507Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608925G>CCA375068346SPTAN1c.4579G>C (p.Gly1527Arg)
c.4543G>C (p.Gly1515Arg)
c.4006G>C (p.Gly1336Arg)
c.2166G>C
c.153G>C
n.5678G>C
c.4483G>C (p.Gly1495Arg)
n.293G>C
c.4519G>C (p.Gly1507Arg)
9g.128608925G=CA1880360391SPTAN1c.4579G= (p.Gly1527=)
c.4543G= (p.Gly1515=)
c.4006G= (p.Gly1336=)
c.2166G=
c.153G=
n.5678G=
c.4483G= (p.Gly1495=)
n.293G=
c.4519G= (p.Gly1507=)
9g.128608925G>TCA5265211SPTAN1c.4579G>T (p.Gly1527Cys)
c.4543G>T (p.Gly1515Cys)
c.4006G>T (p.Gly1336Cys)
c.2166G>T
c.153G>T
n.5678G>T
c.4483G>T (p.Gly1495Cys)
n.293G>T
c.4519G>T (p.Gly1507Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608926G>ACA375068349SPTAN1c.4580G>A (p.Gly1527Asp)
c.4544G>A (p.Gly1515Asp)
c.4007G>A (p.Gly1336Asp)
c.2167G>A
c.154G>A
n.5679G>A
c.4484G>A (p.Gly1495Asp)
n.294G>A
c.4520G>A (p.Gly1507Asp)
9g.128608926G>CCA375068350SPTAN1c.4580G>C (p.Gly1527Ala)
c.4544G>C (p.Gly1515Ala)
c.4007G>C (p.Gly1336Ala)
c.2167G>C
c.154G>C
n.5679G>C
c.4484G>C (p.Gly1495Ala)
n.294G>C
c.4520G>C (p.Gly1507Ala)
9g.128608926G>TCA375068352SPTAN1c.4580G>T (p.Gly1527Val)
c.4544G>T (p.Gly1515Val)
c.4007G>T (p.Gly1336Val)
c.2167G>T
c.154G>T
n.5679G>T
c.4484G>T (p.Gly1495Val)
n.294G>T
c.4520G>T (p.Gly1507Val)
9g.128608927C>ACA467484919SPTAN1c.4581C>A (p.Gly1527=)
c.4545C>A (p.Gly1515=)
c.4008C>A (p.Gly1336=)
c.2168C>A
c.155C>A
n.5680C>A
c.4485C>A (p.Gly1495=)
n.295C>A
c.4521C>A (p.Gly1507=)
9g.128608927C=CA1880360392SPTAN1c.4581C= (p.Gly1527=)
c.4545C= (p.Gly1515=)
c.4008C= (p.Gly1336=)
c.2168C=
c.155C=
n.5680C=
c.4485C= (p.Gly1495=)
n.295C=
c.4521C= (p.Gly1507=)
9g.128608927C>GCA5265212SPTAN1c.4581C>G (p.Gly1527=)
c.4545C>G (p.Gly1515=)
c.4008C>G (p.Gly1336=)
c.2168C>G
c.155C>G
n.5680C>G
c.4485C>G (p.Gly1495=)
n.295C>G
c.4521C>G (p.Gly1507=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128608927C>TCA467484918SPTAN1c.4581C>T (p.Gly1527=)
c.4545C>T (p.Gly1515=)
c.4008C>T (p.Gly1336=)
c.2168C>T
c.155C>T
n.5680C>T
c.4485C>T (p.Gly1495=)
n.295C>T
c.4521C>T (p.Gly1507=)
9g.128608928C>ACA375068359SPTAN1c.4582C>A (p.His1528Asn)
c.4546C>A (p.His1516Asn)
c.4009C>A (p.His1337Asn)
c.2169C>A
c.156C>A
n.5681C>A
c.4486C>A (p.His1496Asn)
n.296C>A
c.4522C>A (p.His1508Asn)
9g.128608928C>GCA375068357SPTAN1c.4582C>G (p.His1528Asp)
c.4546C>G (p.His1516Asp)
c.4009C>G (p.His1337Asp)
c.2169C>G
c.156C>G
n.5681C>G
c.4486C>G (p.His1496Asp)
n.296C>G
c.4522C>G (p.His1508Asp)
9g.128608928C>TCA375068355SPTAN1c.4582C>T (p.His1528Tyr)
c.4546C>T (p.His1516Tyr)
c.4009C>T (p.His1337Tyr)
c.2169C>T
c.156C>T
n.5681C>T
c.4486C>T (p.His1496Tyr)
n.296C>T
c.4522C>T (p.His1508Tyr)
9g.128608929A=CA1880360393SPTAN1c.4583A= (p.His1528=)
c.4547A= (p.His1516=)
c.4010A= (p.His1337=)
c.2170A=
c.157A=
n.5682A=
c.4487A= (p.His1496=)
n.297A=
c.4523A= (p.His1508=)
9g.128608929A>CCA16612727SPTAN1c.4583A>C (p.His1528Pro)
c.4547A>C (p.His1516Pro)
c.4010A>C (p.His1337Pro)
c.2170A>C
c.157A>C
n.5682A>C
c.4487A>C (p.His1496Pro)
n.297A>C
c.4523A>C (p.His1508Pro)
 ClinVar dbSNP gnomAD v4
9g.128608929A>GCA375068363SPTAN1c.4583A>G (p.His1528Arg)
c.4547A>G (p.His1516Arg)
c.4010A>G (p.His1337Arg)
c.2170A>G
c.157A>G
n.5682A>G
c.4487A>G (p.His1496Arg)
n.297A>G
c.4523A>G (p.His1508Arg)
 ClinVar dbSNP gnomAD v4
9g.128608929A>TCA375068361SPTAN1c.4583A>T (p.His1528Leu)
c.4547A>T (p.His1516Leu)
c.4010A>T (p.His1337Leu)
c.2170A>T
c.157A>T
n.5682A>T
c.4487A>T (p.His1496Leu)
n.297A>T
c.4523A>T (p.His1508Leu)
9g.128608930T>ACA375068364SPTAN1c.4584T>A (p.His1528Gln)
c.4548T>A (p.His1516Gln)
c.4011T>A (p.His1337Gln)
c.2171T>A
c.158T>A
n.5683T>A
c.4488T>A (p.His1496Gln)
n.298T>A
c.4524T>A (p.His1508Gln)
9g.128608930T>CCA200399211SPTAN1c.4584T>C (p.His1528=)
c.4548T>C (p.His1516=)
c.4011T>C (p.His1337=)
c.2171T>C
c.158T>C
n.5683T>C
c.4488T>C (p.His1496=)
n.298T>C
c.4524T>C (p.His1508=)
 dbSNP
9g.128608930T>GCA375068365SPTAN1c.4584T>G (p.His1528Gln)
c.4548T>G (p.His1516Gln)
c.4011T>G (p.His1337Gln)
c.2171T>G
c.158T>G
n.5683T>G
c.4488T>G (p.His1496Gln)
n.298T>G
c.4524T>G (p.His1508Gln)
9g.128608930T=CA1880360394SPTAN1c.4584T= (p.His1528=)
c.4548T= (p.His1516=)
c.4011T= (p.His1337=)
c.2171T=
c.158T=
n.5683T=
c.4488T= (p.His1496=)
n.298T=
c.4524T= (p.His1508=)
9g.128608931T>ACA375068367SPTAN1c.4585T>A (p.Tyr1529Asn)
c.4549T>A (p.Tyr1517Asn)
c.4012T>A (p.Tyr1338Asn)
c.2172T>A
c.159T>A
n.5684T>A
c.4489T>A (p.Tyr1497Asn)
n.299T>A
c.4525T>A (p.Tyr1509Asn)
9g.128608931T>CCA375068369SPTAN1c.4585T>C (p.Tyr1529His)
c.4549T>C (p.Tyr1517His)
c.4012T>C (p.Tyr1338His)
c.2172T>C
c.159T>C
n.5684T>C
c.4489T>C (p.Tyr1497His)
n.299T>C
c.4525T>C (p.Tyr1509His)
 gnomAD v4
9g.128608931T>GCA375068370SPTAN1c.4585T>G (p.Tyr1529Asp)
c.4549T>G (p.Tyr1517Asp)
c.4012T>G (p.Tyr1338Asp)
c.2172T>G
c.159T>G
n.5684T>G
c.4489T>G (p.Tyr1497Asp)
n.299T>G
c.4525T>G (p.Tyr1509Asp)
9g.128608932A>CCA375068372SPTAN1c.4586A>C (p.Tyr1529Ser)
c.4550A>C (p.Tyr1517Ser)
c.4013A>C (p.Tyr1338Ser)
c.2173A>C
c.160A>C
n.5685A>C
c.4490A>C (p.Tyr1497Ser)
n.300A>C
c.4526A>C (p.Tyr1509Ser)
9g.128608932A>GCA375068373SPTAN1c.4586A>G (p.Tyr1529Cys)
c.4550A>G (p.Tyr1517Cys)
c.4013A>G (p.Tyr1338Cys)
c.2173A>G
c.160A>G
n.5685A>G
c.4490A>G (p.Tyr1497Cys)
n.300A>G
c.4526A>G (p.Tyr1509Cys)
 gnomAD v4
9g.128608932A>TCA375068375SPTAN1c.4586A>T (p.Tyr1529Phe)
c.4550A>T (p.Tyr1517Phe)
c.4013A>T (p.Tyr1338Phe)
c.2173A>T
c.160A>T
n.5685A>T
c.4490A>T (p.Tyr1497Phe)
n.300A>T
c.4526A>T (p.Tyr1509Phe)
 gnomAD v4
9g.128608933T>ACA375068377SPTAN1c.4587T>A (p.Tyr1529Ter)
c.4551T>A (p.Tyr1517Ter)
c.4014T>A (p.Tyr1338Ter)
c.2174T>A
c.161T>A
n.5686T>A
c.4491T>A (p.Tyr1497Ter)
n.301T>A
c.4527T>A (p.Tyr1509Ter)
9g.128608933T>CCA5265213SPTAN1c.4587T>C (p.Tyr1529=)
c.4551T>C (p.Tyr1517=)
c.4014T>C (p.Tyr1338=)
c.2174T>C
c.161T>C
n.5686T>C
c.4491T>C (p.Tyr1497=)
n.301T>C
c.4527T>C (p.Tyr1509=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608933T>GCA375068378SPTAN1c.4587T>G (p.Tyr1529Ter)
c.4551T>G (p.Tyr1517Ter)
c.4014T>G (p.Tyr1338Ter)
c.2174T>G
c.161T>G
n.5686T>G
c.4491T>G (p.Tyr1497Ter)
n.301T>G
c.4527T>G (p.Tyr1509Ter)
9g.128608933T=CA1880360395SPTAN1c.4587T= (p.Tyr1529=)
c.4551T= (p.Tyr1517=)
c.4014T= (p.Tyr1338=)
c.2174T=
c.161T=
n.5686T=
c.4491T= (p.Tyr1497=)
n.301T=
c.4527T= (p.Tyr1509=)
9g.128608934G>ACA375068384SPTAN1c.4588G>A (p.Ala1530Thr)
c.4552G>A (p.Ala1518Thr)
c.4015G>A (p.Ala1339Thr)
c.2175G>A
c.162G>A
n.5687G>A
c.4492G>A (p.Ala1498Thr)
n.302G>A
c.4528G>A (p.Ala1510Thr)
 ClinVar dbSNP gnomAD v4
9g.128608934G>CCA375068382SPTAN1c.4588G>C (p.Ala1530Pro)
c.4552G>C (p.Ala1518Pro)
c.4015G>C (p.Ala1339Pro)
c.2175G>C
c.162G>C
n.5687G>C
c.4492G>C (p.Ala1498Pro)
n.302G>C
c.4528G>C (p.Ala1510Pro)
9g.128608934G=CA1880360396SPTAN1c.4588G= (p.Ala1530=)
c.4552G= (p.Ala1518=)
c.4015G= (p.Ala1339=)
c.2175G=
c.162G=
n.5687G=
c.4492G= (p.Ala1498=)
n.302G=
c.4528G= (p.Ala1510=)
9g.128608934G>TCA375068380SPTAN1c.4588G>T (p.Ala1530Ser)
c.4552G>T (p.Ala1518Ser)
c.4015G>T (p.Ala1339Ser)
c.2175G>T
c.162G>T
n.5687G>T
c.4492G>T (p.Ala1498Ser)
n.302G>T
c.4528G>T (p.Ala1510Ser)
9g.128608935C>ACA375068386SPTAN1c.4589C>A (p.Ala1530Asp)
c.4553C>A (p.Ala1518Asp)
c.4016C>A (p.Ala1339Asp)
c.2176C>A
c.163C>A
n.5688C>A
c.4493C>A (p.Ala1498Asp)
n.303C>A
c.4529C>A (p.Ala1510Asp)
9g.128608935C>GCA375068387SPTAN1c.4589C>G (p.Ala1530Gly)
c.4553C>G (p.Ala1518Gly)
c.4016C>G (p.Ala1339Gly)
c.2176C>G
c.163C>G
n.5688C>G
c.4493C>G (p.Ala1498Gly)
n.303C>G
c.4529C>G (p.Ala1510Gly)
9g.128608935C>TCA375068389SPTAN1c.4589C>T (p.Ala1530Val)
c.4553C>T (p.Ala1518Val)
c.4016C>T (p.Ala1339Val)
c.2176C>T
c.163C>T
n.5688C>T
c.4493C>T (p.Ala1498Val)
n.303C>T
c.4529C>T (p.Ala1510Val)
9g.128608936C>ACA467484920SPTAN1c.4590C>A (p.Ala1530=)
c.4554C>A (p.Ala1518=)
c.4017C>A (p.Ala1339=)
c.2177C>A
c.164C>A
n.5689C>A
c.4494C>A (p.Ala1498=)
n.304C>A
c.4530C>A (p.Ala1510=)
9g.128608936C=CA1880360397SPTAN1c.4590C= (p.Ala1530=)
c.4554C= (p.Ala1518=)
c.4017C= (p.Ala1339=)
c.2177C=
c.164C=
n.5689C=
c.4494C= (p.Ala1498=)
n.304C=
c.4530C= (p.Ala1510=)
9g.128608936C>GCA5265214SPTAN1c.4590C>G (p.Ala1530=)
c.4554C>G (p.Ala1518=)
c.4017C>G (p.Ala1339=)
c.2177C>G
c.164C>G
n.5689C>G
c.4494C>G (p.Ala1498=)
n.304C>G
c.4530C>G (p.Ala1510=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608936C>TCA200399213SPTAN1c.4590C>T (p.Ala1530=)
c.4554C>T (p.Ala1518=)
c.4017C>T (p.Ala1339=)
c.2177C>T
c.164C>T
n.5689C>T
c.4494C>T (p.Ala1498=)
n.304C>T
c.4530C>T (p.Ala1510=)
 dbSNP gnomAD v2 gnomAD v4
9g.128608937A=CA1880360398SPTAN1c.4591A= (p.Lys1531=)
c.4555A= (p.Lys1519=)
c.4018A= (p.Lys1340=)
c.2178A=
c.165A=
n.5690A=
c.4495A= (p.Lys1499=)
n.305A=
c.4531A= (p.Lys1511=)
9g.128608937A>CCA375068392SPTAN1c.4591A>C (p.Lys1531Gln)
c.4555A>C (p.Lys1519Gln)
c.4018A>C (p.Lys1340Gln)
c.2178A>C
c.165A>C
n.5690A>C
c.4495A>C (p.Lys1499Gln)
n.305A>C
c.4531A>C (p.Lys1511Gln)
9g.128608937A>GCA5265215SPTAN1c.4591A>G (p.Lys1531Glu)
c.4555A>G (p.Lys1519Glu)
c.4018A>G (p.Lys1340Glu)
c.2178A>G
c.165A>G
n.5690A>G
c.4495A>G (p.Lys1499Glu)
n.305A>G
c.4531A>G (p.Lys1511Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128608937A>TCA375068395SPTAN1c.4591A>T (p.Lys1531Ter)
c.4555A>T (p.Lys1519Ter)
c.4018A>T (p.Lys1340Ter)
c.2178A>T
c.165A>T
n.5690A>T
c.4495A>T (p.Lys1499Ter)
n.305A>T
c.4531A>T (p.Lys1511Ter)
9g.128608938delCA2513542853SPTAN1c.4592del (p.Lys1531ArgfsTer18)
c.4556del (p.Lys1519ArgfsTer18)
c.4019del (p.Lys1340ArgfsTer18)
c.2179del
c.166del
n.5691del
c.4496del (p.Lys1499ArgfsTer18)
n.306del
c.4532del (p.Lys1511ArgfsTer18)
9g.128608938A=CA1880360399SPTAN1c.4592A= (p.Lys1531=)
c.4556A= (p.Lys1519=)
c.4019A= (p.Lys1340=)
c.2179A=
c.166A=
n.5691A=
c.4496A= (p.Lys1499=)
n.306A=
c.4532A= (p.Lys1511=)
9g.128608938A>CCA375068397SPTAN1c.4592A>C (p.Lys1531Thr)
c.4556A>C (p.Lys1519Thr)
c.4019A>C (p.Lys1340Thr)
c.2179A>C
c.166A>C
n.5691A>C
c.4496A>C (p.Lys1499Thr)
n.306A>C
c.4532A>C (p.Lys1511Thr)
9g.128608938A>GCA375068398SPTAN1c.4592A>G (p.Lys1531Arg)
c.4556A>G (p.Lys1519Arg)
c.4019A>G (p.Lys1340Arg)
c.2179A>G
c.166A>G
n.5691A>G
c.4496A>G (p.Lys1499Arg)
n.306A>G
c.4532A>G (p.Lys1511Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128608938A>TCA375068399SPTAN1c.4592A>T (p.Lys1531Met)
c.4556A>T (p.Lys1519Met)
c.4019A>T (p.Lys1340Met)
c.2179A>T
c.166A>T
n.5691A>T
c.4496A>T (p.Lys1499Met)
n.306A>T
c.4532A>T (p.Lys1511Met)
9g.128608939G>ACA467484921SPTAN1c.4593G>A (p.Lys1531=)
c.4557G>A (p.Lys1519=)
c.4020G>A (p.Lys1340=)
c.2180G>A
c.167G>A
n.5692G>A
c.4497G>A (p.Lys1499=)
n.1G>A
n.307G>A
c.4533G>A (p.Lys1511=)
9g.128608939G>CCA375068401SPTAN1c.4593G>C (p.Lys1531Asn)
c.4557G>C (p.Lys1519Asn)
c.4020G>C (p.Lys1340Asn)
c.2180G>C
c.167G>C
n.5692G>C
c.4497G>C (p.Lys1499Asn)
n.1G>C
n.307G>C
c.4533G>C (p.Lys1511Asn)
9g.128608939G>TCA375068403SPTAN1c.4593G>T (p.Lys1531Asn)
c.4557G>T (p.Lys1519Asn)
c.4020G>T (p.Lys1340Asn)
c.2180G>T
c.167G>T
n.5692G>T
c.4497G>T (p.Lys1499Asn)
n.1G>T
n.307G>T
c.4533G>T (p.Lys1511Asn)
 gnomAD v4

Number of alleles fetched