Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46023928C>ACA2638368739MAPTc.1024-28C>A (n.1024-28C>A)
c.937-28C>A (n.937-28C>A)
c.1111-28C>A (n.1111-28C>A)
n.337-28C>A
n.295-28C>A
n.529-28C>A
c.2287-28C>A (n.2287-28C>A)
c.1996-28C>A (n.1996-28C>A)
c.931-28C>A (n.931-28C>A)
c.1060-28C>A (n.1060-28C>A)
c.2062-28C>A (n.2062-28C>A)
c.844-28C>A (n.844-28C>A)
c.2116-28C>A (n.2116-28C>A)
c.1018-28C>A (n.1018-28C>A)
n.6303-28C>A
c.2374-28C>A (n.2374-28C>A)
c.2281-28C>A (n.2281-28C>A)
c.2200-28C>A (n.2200-28C>A)
c.2176-28C>A (n.2176-28C>A)
c.2083-28C>A (n.2083-28C>A)
c.1309-28C>A (n.1309-28C>A)
c.1222-28C>A (n.1222-28C>A)
c.1135-28C>A (n.1135-28C>A)
c.772-1189C>A (n.772-1189C>A)
n.942-28C>A
 gnomAD v4
17g.46023928C>TCA2576299110MAPTc.1024-28C>T (n.1024-28C>T)
c.937-28C>T (n.937-28C>T)
c.1111-28C>T (n.1111-28C>T)
n.337-28C>T
n.295-28C>T
n.529-28C>T
c.2287-28C>T (n.2287-28C>T)
c.1996-28C>T (n.1996-28C>T)
c.931-28C>T (n.931-28C>T)
c.1060-28C>T (n.1060-28C>T)
c.2062-28C>T (n.2062-28C>T)
c.844-28C>T (n.844-28C>T)
c.2116-28C>T (n.2116-28C>T)
c.1018-28C>T (n.1018-28C>T)
n.6303-28C>T
c.2374-28C>T (n.2374-28C>T)
c.2281-28C>T (n.2281-28C>T)
c.2200-28C>T (n.2200-28C>T)
c.2176-28C>T (n.2176-28C>T)
c.2083-28C>T (n.2083-28C>T)
c.1309-28C>T (n.1309-28C>T)
c.1222-28C>T (n.1222-28C>T)
c.1135-28C>T (n.1135-28C>T)
c.772-1189C>T (n.772-1189C>T)
n.942-28C>T
 gnomAD v4
17g.46023929A>CCA984131313MAPTc.1024-27A>C (n.1024-27A>C)
c.937-27A>C (n.937-27A>C)
c.1111-27A>C (n.1111-27A>C)
n.337-27A>C
n.295-27A>C
n.529-27A>C
c.2287-27A>C (n.2287-27A>C)
c.1996-27A>C (n.1996-27A>C)
c.931-27A>C (n.931-27A>C)
c.1060-27A>C (n.1060-27A>C)
c.2062-27A>C (n.2062-27A>C)
c.844-27A>C (n.844-27A>C)
c.2116-27A>C (n.2116-27A>C)
c.1018-27A>C (n.1018-27A>C)
n.6303-27A>C
c.2374-27A>C (n.2374-27A>C)
c.2281-27A>C (n.2281-27A>C)
c.2200-27A>C (n.2200-27A>C)
c.2176-27A>C (n.2176-27A>C)
c.2083-27A>C (n.2083-27A>C)
c.1309-27A>C (n.1309-27A>C)
c.1222-27A>C (n.1222-27A>C)
c.1135-27A>C (n.1135-27A>C)
c.772-1188A>C (n.772-1188A>C)
n.942-27A>C
 gnomAD v3 gnomAD v4
17g.46023929A>GCA2638368742MAPTc.1024-27A>G (n.1024-27A>G)
c.937-27A>G (n.937-27A>G)
c.1111-27A>G (n.1111-27A>G)
n.337-27A>G
n.295-27A>G
n.529-27A>G
c.2287-27A>G (n.2287-27A>G)
c.1996-27A>G (n.1996-27A>G)
c.931-27A>G (n.931-27A>G)
c.1060-27A>G (n.1060-27A>G)
c.2062-27A>G (n.2062-27A>G)
c.844-27A>G (n.844-27A>G)
c.2116-27A>G (n.2116-27A>G)
c.1018-27A>G (n.1018-27A>G)
n.6303-27A>G
c.2374-27A>G (n.2374-27A>G)
c.2281-27A>G (n.2281-27A>G)
c.2200-27A>G (n.2200-27A>G)
c.2176-27A>G (n.2176-27A>G)
c.2083-27A>G (n.2083-27A>G)
c.1309-27A>G (n.1309-27A>G)
c.1222-27A>G (n.1222-27A>G)
c.1135-27A>G (n.1135-27A>G)
c.772-1188A>G (n.772-1188A>G)
n.942-27A>G
 gnomAD v4
17g.46023930C>ACA2576299112MAPTc.1024-26C>A (n.1024-26C>A)
c.937-26C>A (n.937-26C>A)
c.1111-26C>A (n.1111-26C>A)
n.337-26C>A
n.295-26C>A
n.529-26C>A
c.2287-26C>A (n.2287-26C>A)
c.1996-26C>A (n.1996-26C>A)
c.931-26C>A (n.931-26C>A)
c.1060-26C>A (n.1060-26C>A)
c.2062-26C>A (n.2062-26C>A)
c.844-26C>A (n.844-26C>A)
c.2116-26C>A (n.2116-26C>A)
c.1018-26C>A (n.1018-26C>A)
n.6303-26C>A
c.2374-26C>A (n.2374-26C>A)
c.2281-26C>A (n.2281-26C>A)
c.2200-26C>A (n.2200-26C>A)
c.2176-26C>A (n.2176-26C>A)
c.2083-26C>A (n.2083-26C>A)
c.1309-26C>A (n.1309-26C>A)
c.1222-26C>A (n.1222-26C>A)
c.1135-26C>A (n.1135-26C>A)
c.772-1187C>A (n.772-1187C>A)
n.942-26C>A
 gnomAD v4
17g.46023930C=CA2262106886MAPTc.1024-26C= (n.1024-26C=)
c.937-26C= (n.937-26C=)
c.1111-26C= (n.1111-26C=)
n.337-26C=
n.295-26C=
n.529-26C=
c.2287-26C= (n.2287-26C=)
c.1996-26C= (n.1996-26C=)
c.931-26C= (n.931-26C=)
c.1060-26C= (n.1060-26C=)
c.2062-26C= (n.2062-26C=)
c.844-26C= (n.844-26C=)
c.2116-26C= (n.2116-26C=)
c.1018-26C= (n.1018-26C=)
n.6303-26C=
c.2374-26C= (n.2374-26C=)
c.2281-26C= (n.2281-26C=)
c.2200-26C= (n.2200-26C=)
c.2176-26C= (n.2176-26C=)
c.2083-26C= (n.2083-26C=)
c.1309-26C= (n.1309-26C=)
c.1222-26C= (n.1222-26C=)
c.1135-26C= (n.1135-26C=)
c.772-1187C= (n.772-1187C=)
n.942-26C=
17g.46023930C>GCA8618241MAPTc.1024-26C>G (n.1024-26C>G)
c.937-26C>G (n.937-26C>G)
c.1111-26C>G (n.1111-26C>G)
n.337-26C>G
n.295-26C>G
n.529-26C>G
c.2287-26C>G (n.2287-26C>G)
c.1996-26C>G (n.1996-26C>G)
c.931-26C>G (n.931-26C>G)
c.1060-26C>G (n.1060-26C>G)
c.2062-26C>G (n.2062-26C>G)
c.844-26C>G (n.844-26C>G)
c.2116-26C>G (n.2116-26C>G)
c.1018-26C>G (n.1018-26C>G)
n.6303-26C>G
c.2374-26C>G (n.2374-26C>G)
c.2281-26C>G (n.2281-26C>G)
c.2200-26C>G (n.2200-26C>G)
c.2176-26C>G (n.2176-26C>G)
c.2083-26C>G (n.2083-26C>G)
c.1309-26C>G (n.1309-26C>G)
c.1222-26C>G (n.1222-26C>G)
c.1135-26C>G (n.1135-26C>G)
c.772-1187C>G (n.772-1187C>G)
n.942-26C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46023930C>TCA8618240MAPTc.1024-26C>T (n.1024-26C>T)
c.937-26C>T (n.937-26C>T)
c.1111-26C>T (n.1111-26C>T)
n.337-26C>T
n.295-26C>T
n.529-26C>T
c.2287-26C>T (n.2287-26C>T)
c.1996-26C>T (n.1996-26C>T)
c.931-26C>T (n.931-26C>T)
c.1060-26C>T (n.1060-26C>T)
c.2062-26C>T (n.2062-26C>T)
c.844-26C>T (n.844-26C>T)
c.2116-26C>T (n.2116-26C>T)
c.1018-26C>T (n.1018-26C>T)
n.6303-26C>T
c.2374-26C>T (n.2374-26C>T)
c.2281-26C>T (n.2281-26C>T)
c.2200-26C>T (n.2200-26C>T)
c.2176-26C>T (n.2176-26C>T)
c.2083-26C>T (n.2083-26C>T)
c.1309-26C>T (n.1309-26C>T)
c.1222-26C>T (n.1222-26C>T)
c.1135-26C>T (n.1135-26C>T)
c.772-1187C>T (n.772-1187C>T)
n.942-26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46023938_46023941delCA2576299111MAPTc.1024-18_1024-15del (n.1024-18_1024-15del)
c.937-18_937-15del (n.937-18_937-15del)
c.1111-18_1111-15del (n.1111-18_1111-15del)
n.337-18_337-15del
n.295-18_295-15del
n.529-18_529-15del
c.2287-18_2287-15del (n.2287-18_2287-15del)
c.1996-18_1996-15del (n.1996-18_1996-15del)
c.931-18_931-15del (n.931-18_931-15del)
c.1060-18_1060-15del (n.1060-18_1060-15del)
c.2062-18_2062-15del (n.2062-18_2062-15del)
c.844-18_844-15del (n.844-18_844-15del)
c.2116-18_2116-15del (n.2116-18_2116-15del)
c.1018-18_1018-15del (n.1018-18_1018-15del)
n.6303-18_6303-15del
c.2374-18_2374-15del (n.2374-18_2374-15del)
c.2281-18_2281-15del (n.2281-18_2281-15del)
c.2200-18_2200-15del (n.2200-18_2200-15del)
c.2176-18_2176-15del (n.2176-18_2176-15del)
c.2083-18_2083-15del (n.2083-18_2083-15del)
c.1309-18_1309-15del (n.1309-18_1309-15del)
c.1222-18_1222-15del (n.1222-18_1222-15del)
c.1135-18_1135-15del (n.1135-18_1135-15del)
c.772-1179_772-1176del (n.772-1179_772-1176del)
n.942-18_942-15del
 gnomAD v4
17g.46023931C>TCA2638368751MAPTc.1024-25C>T (n.1024-25C>T)
c.937-25C>T (n.937-25C>T)
c.1111-25C>T (n.1111-25C>T)
n.337-25C>T
n.295-25C>T
n.529-25C>T
c.2287-25C>T (n.2287-25C>T)
c.1996-25C>T (n.1996-25C>T)
c.931-25C>T (n.931-25C>T)
c.1060-25C>T (n.1060-25C>T)
c.2062-25C>T (n.2062-25C>T)
c.844-25C>T (n.844-25C>T)
c.2116-25C>T (n.2116-25C>T)
c.1018-25C>T (n.1018-25C>T)
n.6303-25C>T
c.2374-25C>T (n.2374-25C>T)
c.2281-25C>T (n.2281-25C>T)
c.2200-25C>T (n.2200-25C>T)
c.2176-25C>T (n.2176-25C>T)
c.2083-25C>T (n.2083-25C>T)
c.1309-25C>T (n.1309-25C>T)
c.1222-25C>T (n.1222-25C>T)
c.1135-25C>T (n.1135-25C>T)
c.772-1186C>T (n.772-1186C>T)
n.942-25C>T
 gnomAD v4
17g.46023932C>ACA2638368752MAPTc.1024-24C>A (n.1024-24C>A)
c.937-24C>A (n.937-24C>A)
c.1111-24C>A (n.1111-24C>A)
n.337-24C>A
n.295-24C>A
n.529-24C>A
c.2287-24C>A (n.2287-24C>A)
c.1996-24C>A (n.1996-24C>A)
c.931-24C>A (n.931-24C>A)
c.1060-24C>A (n.1060-24C>A)
c.2062-24C>A (n.2062-24C>A)
c.844-24C>A (n.844-24C>A)
c.2116-24C>A (n.2116-24C>A)
c.1018-24C>A (n.1018-24C>A)
n.6303-24C>A
c.2374-24C>A (n.2374-24C>A)
c.2281-24C>A (n.2281-24C>A)
c.2200-24C>A (n.2200-24C>A)
c.2176-24C>A (n.2176-24C>A)
c.2083-24C>A (n.2083-24C>A)
c.1309-24C>A (n.1309-24C>A)
c.1222-24C>A (n.1222-24C>A)
c.1135-24C>A (n.1135-24C>A)
c.772-1185C>A (n.772-1185C>A)
n.942-24C>A
 gnomAD v4
17g.46023932C>GCA2638368753MAPTc.1024-24C>G (n.1024-24C>G)
c.937-24C>G (n.937-24C>G)
c.1111-24C>G (n.1111-24C>G)
n.337-24C>G
n.295-24C>G
n.529-24C>G
c.2287-24C>G (n.2287-24C>G)
c.1996-24C>G (n.1996-24C>G)
c.931-24C>G (n.931-24C>G)
c.1060-24C>G (n.1060-24C>G)
c.2062-24C>G (n.2062-24C>G)
c.844-24C>G (n.844-24C>G)
c.2116-24C>G (n.2116-24C>G)
c.1018-24C>G (n.1018-24C>G)
n.6303-24C>G
c.2374-24C>G (n.2374-24C>G)
c.2281-24C>G (n.2281-24C>G)
c.2200-24C>G (n.2200-24C>G)
c.2176-24C>G (n.2176-24C>G)
c.2083-24C>G (n.2083-24C>G)
c.1309-24C>G (n.1309-24C>G)
c.1222-24C>G (n.1222-24C>G)
c.1135-24C>G (n.1135-24C>G)
c.772-1185C>G (n.772-1185C>G)
n.942-24C>G
 gnomAD v4
17g.46023933T>GCA626332948MAPTc.1024-23T>G (n.1024-23T>G)
c.937-23T>G (n.937-23T>G)
c.1111-23T>G (n.1111-23T>G)
n.337-23T>G
n.295-23T>G
n.529-23T>G
c.2287-23T>G (n.2287-23T>G)
c.1996-23T>G (n.1996-23T>G)
c.931-23T>G (n.931-23T>G)
c.1060-23T>G (n.1060-23T>G)
c.2062-23T>G (n.2062-23T>G)
c.844-23T>G (n.844-23T>G)
c.2116-23T>G (n.2116-23T>G)
c.1018-23T>G (n.1018-23T>G)
n.6303-23T>G
c.2374-23T>G (n.2374-23T>G)
c.2281-23T>G (n.2281-23T>G)
c.2200-23T>G (n.2200-23T>G)
c.2176-23T>G (n.2176-23T>G)
c.2083-23T>G (n.2083-23T>G)
c.1309-23T>G (n.1309-23T>G)
c.1222-23T>G (n.1222-23T>G)
c.1135-23T>G (n.1135-23T>G)
c.772-1184T>G (n.772-1184T>G)
n.942-23T>G
 dbSNP gnomAD v2 gnomAD v4
17g.46023933T=CA2262106887MAPTc.1024-23T= (n.1024-23T=)
c.937-23T= (n.937-23T=)
c.1111-23T= (n.1111-23T=)
n.337-23T=
n.295-23T=
n.529-23T=
c.2287-23T= (n.2287-23T=)
c.1996-23T= (n.1996-23T=)
c.931-23T= (n.931-23T=)
c.1060-23T= (n.1060-23T=)
c.2062-23T= (n.2062-23T=)
c.844-23T= (n.844-23T=)
c.2116-23T= (n.2116-23T=)
c.1018-23T= (n.1018-23T=)
n.6303-23T=
c.2374-23T= (n.2374-23T=)
c.2281-23T= (n.2281-23T=)
c.2200-23T= (n.2200-23T=)
c.2176-23T= (n.2176-23T=)
c.2083-23T= (n.2083-23T=)
c.1309-23T= (n.1309-23T=)
c.1222-23T= (n.1222-23T=)
c.1135-23T= (n.1135-23T=)
c.772-1184T= (n.772-1184T=)
n.942-23T=
17g.46023934C=CA2262106888MAPTc.1024-22C= (n.1024-22C=)
c.937-22C= (n.937-22C=)
c.1111-22C= (n.1111-22C=)
n.337-22C=
n.295-22C=
n.529-22C=
c.2287-22C= (n.2287-22C=)
c.1996-22C= (n.1996-22C=)
c.931-22C= (n.931-22C=)
c.1060-22C= (n.1060-22C=)
c.2062-22C= (n.2062-22C=)
c.844-22C= (n.844-22C=)
c.2116-22C= (n.2116-22C=)
c.1018-22C= (n.1018-22C=)
n.6303-22C=
c.2374-22C= (n.2374-22C=)
c.2281-22C= (n.2281-22C=)
c.2200-22C= (n.2200-22C=)
c.2176-22C= (n.2176-22C=)
c.2083-22C= (n.2083-22C=)
c.1309-22C= (n.1309-22C=)
c.1222-22C= (n.1222-22C=)
c.1135-22C= (n.1135-22C=)
c.772-1183C= (n.772-1183C=)
n.942-22C=
17g.46023934C>TCA8618242MAPTc.1024-22C>T (n.1024-22C>T)
c.937-22C>T (n.937-22C>T)
c.1111-22C>T (n.1111-22C>T)
n.337-22C>T
n.295-22C>T
n.529-22C>T
c.2287-22C>T (n.2287-22C>T)
c.1996-22C>T (n.1996-22C>T)
c.931-22C>T (n.931-22C>T)
c.1060-22C>T (n.1060-22C>T)
c.2062-22C>T (n.2062-22C>T)
c.844-22C>T (n.844-22C>T)
c.2116-22C>T (n.2116-22C>T)
c.1018-22C>T (n.1018-22C>T)
n.6303-22C>T
c.2374-22C>T (n.2374-22C>T)
c.2281-22C>T (n.2281-22C>T)
c.2200-22C>T (n.2200-22C>T)
c.2176-22C>T (n.2176-22C>T)
c.2083-22C>T (n.2083-22C>T)
c.1309-22C>T (n.1309-22C>T)
c.1222-22C>T (n.1222-22C>T)
c.1135-22C>T (n.1135-22C>T)
c.772-1183C>T (n.772-1183C>T)
n.942-22C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46023935C=CA2262106889MAPTc.1024-21C= (n.1024-21C=)
c.937-21C= (n.937-21C=)
c.1111-21C= (n.1111-21C=)
n.337-21C=
n.295-21C=
n.529-21C=
c.2287-21C= (n.2287-21C=)
c.1996-21C= (n.1996-21C=)
c.931-21C= (n.931-21C=)
c.1060-21C= (n.1060-21C=)
c.2062-21C= (n.2062-21C=)
c.844-21C= (n.844-21C=)
c.2116-21C= (n.2116-21C=)
c.1018-21C= (n.1018-21C=)
n.6303-21C=
c.2374-21C= (n.2374-21C=)
c.2281-21C= (n.2281-21C=)
c.2200-21C= (n.2200-21C=)
c.2176-21C= (n.2176-21C=)
c.2083-21C= (n.2083-21C=)
c.1309-21C= (n.1309-21C=)
c.1222-21C= (n.1222-21C=)
c.1135-21C= (n.1135-21C=)
c.772-1182C= (n.772-1182C=)
n.942-21C=
17g.46023935C>GCA2262106890MAPTc.1024-21C>G (n.1024-21C>G)
c.937-21C>G (n.937-21C>G)
c.1111-21C>G (n.1111-21C>G)
n.337-21C>G
n.295-21C>G
n.529-21C>G
c.2287-21C>G (n.2287-21C>G)
c.1996-21C>G (n.1996-21C>G)
c.931-21C>G (n.931-21C>G)
c.1060-21C>G (n.1060-21C>G)
c.2062-21C>G (n.2062-21C>G)
c.844-21C>G (n.844-21C>G)
c.2116-21C>G (n.2116-21C>G)
c.1018-21C>G (n.1018-21C>G)
n.6303-21C>G
c.2374-21C>G (n.2374-21C>G)
c.2281-21C>G (n.2281-21C>G)
c.2200-21C>G (n.2200-21C>G)
c.2176-21C>G (n.2176-21C>G)
c.2083-21C>G (n.2083-21C>G)
c.1309-21C>G (n.1309-21C>G)
c.1222-21C>G (n.1222-21C>G)
c.1135-21C>G (n.1135-21C>G)
c.772-1182C>G (n.772-1182C>G)
n.942-21C>G
 dbSNP
17g.46023935C>TCA2638368759MAPTc.1024-21C>T (n.1024-21C>T)
c.937-21C>T (n.937-21C>T)
c.1111-21C>T (n.1111-21C>T)
n.337-21C>T
n.295-21C>T
n.529-21C>T
c.2287-21C>T (n.2287-21C>T)
c.1996-21C>T (n.1996-21C>T)
c.931-21C>T (n.931-21C>T)
c.1060-21C>T (n.1060-21C>T)
c.2062-21C>T (n.2062-21C>T)
c.844-21C>T (n.844-21C>T)
c.2116-21C>T (n.2116-21C>T)
c.1018-21C>T (n.1018-21C>T)
n.6303-21C>T
c.2374-21C>T (n.2374-21C>T)
c.2281-21C>T (n.2281-21C>T)
c.2200-21C>T (n.2200-21C>T)
c.2176-21C>T (n.2176-21C>T)
c.2083-21C>T (n.2083-21C>T)
c.1309-21C>T (n.1309-21C>T)
c.1222-21C>T (n.1222-21C>T)
c.1135-21C>T (n.1135-21C>T)
c.772-1182C>T (n.772-1182C>T)
n.942-21C>T
 gnomAD v4
17g.46023936C>ACA2576299113MAPTc.1024-20C>A (n.1024-20C>A)
c.937-20C>A (n.937-20C>A)
c.1111-20C>A (n.1111-20C>A)
n.337-20C>A
n.295-20C>A
n.529-20C>A
c.2287-20C>A (n.2287-20C>A)
c.1996-20C>A (n.1996-20C>A)
c.931-20C>A (n.931-20C>A)
c.1060-20C>A (n.1060-20C>A)
c.2062-20C>A (n.2062-20C>A)
c.844-20C>A (n.844-20C>A)
c.2116-20C>A (n.2116-20C>A)
c.1018-20C>A (n.1018-20C>A)
n.6303-20C>A
c.2374-20C>A (n.2374-20C>A)
c.2281-20C>A (n.2281-20C>A)
c.2200-20C>A (n.2200-20C>A)
c.2176-20C>A (n.2176-20C>A)
c.2083-20C>A (n.2083-20C>A)
c.1309-20C>A (n.1309-20C>A)
c.1222-20C>A (n.1222-20C>A)
c.1135-20C>A (n.1135-20C>A)
c.772-1181C>A (n.772-1181C>A)
n.942-20C>A
17g.46023936C=CA2262106891MAPTc.1024-20C= (n.1024-20C=)
c.937-20C= (n.937-20C=)
c.1111-20C= (n.1111-20C=)
n.337-20C=
n.295-20C=
n.529-20C=
c.2287-20C= (n.2287-20C=)
c.1996-20C= (n.1996-20C=)
c.931-20C= (n.931-20C=)
c.1060-20C= (n.1060-20C=)
c.2062-20C= (n.2062-20C=)
c.844-20C= (n.844-20C=)
c.2116-20C= (n.2116-20C=)
c.1018-20C= (n.1018-20C=)
n.6303-20C=
c.2374-20C= (n.2374-20C=)
c.2281-20C= (n.2281-20C=)
c.2200-20C= (n.2200-20C=)
c.2176-20C= (n.2176-20C=)
c.2083-20C= (n.2083-20C=)
c.1309-20C= (n.1309-20C=)
c.1222-20C= (n.1222-20C=)
c.1135-20C= (n.1135-20C=)
c.772-1181C= (n.772-1181C=)
n.942-20C=
17g.46023936C>GCA291117877MAPTc.1024-20C>G (n.1024-20C>G)
c.937-20C>G (n.937-20C>G)
c.1111-20C>G (n.1111-20C>G)
n.337-20C>G
n.295-20C>G
n.529-20C>G
c.2287-20C>G (n.2287-20C>G)
c.1996-20C>G (n.1996-20C>G)
c.931-20C>G (n.931-20C>G)
c.1060-20C>G (n.1060-20C>G)
c.2062-20C>G (n.2062-20C>G)
c.844-20C>G (n.844-20C>G)
c.2116-20C>G (n.2116-20C>G)
c.1018-20C>G (n.1018-20C>G)
n.6303-20C>G
c.2374-20C>G (n.2374-20C>G)
c.2281-20C>G (n.2281-20C>G)
c.2200-20C>G (n.2200-20C>G)
c.2176-20C>G (n.2176-20C>G)
c.2083-20C>G (n.2083-20C>G)
c.1309-20C>G (n.1309-20C>G)
c.1222-20C>G (n.1222-20C>G)
c.1135-20C>G (n.1135-20C>G)
c.772-1181C>G (n.772-1181C>G)
n.942-20C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46023936C>TCA2262106892MAPTc.1024-20C>T (n.1024-20C>T)
c.937-20C>T (n.937-20C>T)
c.1111-20C>T (n.1111-20C>T)
n.337-20C>T
n.295-20C>T
n.529-20C>T
c.2287-20C>T (n.2287-20C>T)
c.1996-20C>T (n.1996-20C>T)
c.931-20C>T (n.931-20C>T)
c.1060-20C>T (n.1060-20C>T)
c.2062-20C>T (n.2062-20C>T)
c.844-20C>T (n.844-20C>T)
c.2116-20C>T (n.2116-20C>T)
c.1018-20C>T (n.1018-20C>T)
n.6303-20C>T
c.2374-20C>T (n.2374-20C>T)
c.2281-20C>T (n.2281-20C>T)
c.2200-20C>T (n.2200-20C>T)
c.2176-20C>T (n.2176-20C>T)
c.2083-20C>T (n.2083-20C>T)
c.1309-20C>T (n.1309-20C>T)
c.1222-20C>T (n.1222-20C>T)
c.1135-20C>T (n.1135-20C>T)
c.772-1181C>T (n.772-1181C>T)
n.942-20C>T
 dbSNP
17g.46023937T=CA2262106893MAPTc.1024-19T= (n.1024-19T=)
c.937-19T= (n.937-19T=)
c.1111-19T= (n.1111-19T=)
n.337-19T=
n.295-19T=
n.529-19T=
c.2287-19T= (n.2287-19T=)
c.1996-19T= (n.1996-19T=)
c.931-19T= (n.931-19T=)
c.1060-19T= (n.1060-19T=)
c.2062-19T= (n.2062-19T=)
c.844-19T= (n.844-19T=)
c.2116-19T= (n.2116-19T=)
c.1018-19T= (n.1018-19T=)
n.6303-19T=
c.2374-19T= (n.2374-19T=)
c.2281-19T= (n.2281-19T=)
c.2200-19T= (n.2200-19T=)
c.2176-19T= (n.2176-19T=)
c.2083-19T= (n.2083-19T=)
c.1309-19T= (n.1309-19T=)
c.1222-19T= (n.1222-19T=)
c.1135-19T= (n.1135-19T=)
c.772-1180T= (n.772-1180T=)
n.942-19T=
17g.46023938C>TCA2638368762MAPTc.1024-18C>T (n.1024-18C>T)
c.937-18C>T (n.937-18C>T)
c.1111-18C>T (n.1111-18C>T)
n.337-18C>T
n.295-18C>T
n.529-18C>T
c.2287-18C>T (n.2287-18C>T)
c.1996-18C>T (n.1996-18C>T)
c.931-18C>T (n.931-18C>T)
c.1060-18C>T (n.1060-18C>T)
c.2062-18C>T (n.2062-18C>T)
c.844-18C>T (n.844-18C>T)
c.2116-18C>T (n.2116-18C>T)
c.1018-18C>T (n.1018-18C>T)
n.6303-18C>T
c.2374-18C>T (n.2374-18C>T)
c.2281-18C>T (n.2281-18C>T)
c.2200-18C>T (n.2200-18C>T)
c.2176-18C>T (n.2176-18C>T)
c.2083-18C>T (n.2083-18C>T)
c.1309-18C>T (n.1309-18C>T)
c.1222-18C>T (n.1222-18C>T)
c.1135-18C>T (n.1135-18C>T)
c.772-1179C>T (n.772-1179C>T)
n.942-18C>T
 gnomAD v4
17g.46023940dupCA772443683MAPTc.1024-16dup (n.1024-16dup)
c.937-16dup (n.937-16dup)
c.1111-16dup (n.1111-16dup)
n.337-16dup
n.295-16dup
n.529-16dup
c.2287-16dup (n.2287-16dup)
c.1996-16dup (n.1996-16dup)
c.931-16dup (n.931-16dup)
c.1060-16dup (n.1060-16dup)
c.2062-16dup (n.2062-16dup)
c.844-16dup (n.844-16dup)
c.2116-16dup (n.2116-16dup)
c.1018-16dup (n.1018-16dup)
n.6303-16dup
c.2374-16dup (n.2374-16dup)
c.2281-16dup (n.2281-16dup)
c.2200-16dup (n.2200-16dup)
c.2176-16dup (n.2176-16dup)
c.2083-16dup (n.2083-16dup)
c.1309-16dup (n.1309-16dup)
c.1222-16dup (n.1222-16dup)
c.1135-16dup (n.1135-16dup)
c.772-1177dup (n.772-1177dup)
n.942-16dup
 dbSNP gnomAD v3 gnomAD v4
17g.46023938_46023942delinsCCCTTCA2262106894MAPTc.1024-18_1024-14delinsCCCTT (n.1024-18_1024-14delinsCCCTT)
c.937-18_937-14delinsCCCTT (n.937-18_937-14delinsCCCTT)
c.1111-18_1111-14delinsCCCTT (n.1111-18_1111-14delinsCCCTT)
n.337-18_337-14delinsCCCTT
n.295-18_295-14delinsCCCTT
n.529-18_529-14delinsCCCTT
c.2287-18_2287-14delinsCCCTT (n.2287-18_2287-14delinsCCCTT)
c.1996-18_1996-14delinsCCCTT (n.1996-18_1996-14delinsCCCTT)
c.931-18_931-14delinsCCCTT (n.931-18_931-14delinsCCCTT)
c.1060-18_1060-14delinsCCCTT (n.1060-18_1060-14delinsCCCTT)
c.2062-18_2062-14delinsCCCTT (n.2062-18_2062-14delinsCCCTT)
c.844-18_844-14delinsCCCTT (n.844-18_844-14delinsCCCTT)
c.2116-18_2116-14delinsCCCTT (n.2116-18_2116-14delinsCCCTT)
c.1018-18_1018-14delinsCCCTT (n.1018-18_1018-14delinsCCCTT)
n.6303-18_6303-14delinsCCCTT
c.2374-18_2374-14delinsCCCTT (n.2374-18_2374-14delinsCCCTT)
c.2281-18_2281-14delinsCCCTT (n.2281-18_2281-14delinsCCCTT)
c.2200-18_2200-14delinsCCCTT (n.2200-18_2200-14delinsCCCTT)
c.2176-18_2176-14delinsCCCTT (n.2176-18_2176-14delinsCCCTT)
c.2083-18_2083-14delinsCCCTT (n.2083-18_2083-14delinsCCCTT)
c.1309-18_1309-14delinsCCCTT (n.1309-18_1309-14delinsCCCTT)
c.1222-18_1222-14delinsCCCTT (n.1222-18_1222-14delinsCCCTT)
c.1135-18_1135-14delinsCCCTT (n.1135-18_1135-14delinsCCCTT)
c.772-1179_772-1175delinsCCCTT (n.772-1179_772-1175delinsCCCTT)
n.942-18_942-14delinsCCCTT
17g.46023942_46023945delCA626332949MAPTc.1024-14_1024-11del (n.1024-14_1024-11del)
c.937-14_937-11del (n.937-14_937-11del)
c.1111-14_1111-11del (n.1111-14_1111-11del)
n.337-14_337-11del
n.295-14_295-11del
n.529-14_529-11del
c.2287-14_2287-11del (n.2287-14_2287-11del)
c.1996-14_1996-11del (n.1996-14_1996-11del)
c.931-14_931-11del (n.931-14_931-11del)
c.1060-14_1060-11del (n.1060-14_1060-11del)
c.2062-14_2062-11del (n.2062-14_2062-11del)
c.844-14_844-11del (n.844-14_844-11del)
c.2116-14_2116-11del (n.2116-14_2116-11del)
c.1018-14_1018-11del (n.1018-14_1018-11del)
n.6303-14_6303-11del
c.2374-14_2374-11del (n.2374-14_2374-11del)
c.2281-14_2281-11del (n.2281-14_2281-11del)
c.2200-14_2200-11del (n.2200-14_2200-11del)
c.2176-14_2176-11del (n.2176-14_2176-11del)
c.2083-14_2083-11del (n.2083-14_2083-11del)
c.1309-14_1309-11del (n.1309-14_1309-11del)
c.1222-14_1222-11del (n.1222-14_1222-11del)
c.1135-14_1135-11del (n.1135-14_1135-11del)
c.772-1175_772-1172del (n.772-1175_772-1172del)
n.942-14_942-11del
 dbSNP gnomAD v2 gnomAD v4
17g.46023941T>ACA984131319MAPTc.1024-15T>A (n.1024-15T>A)
c.937-15T>A (n.937-15T>A)
c.1111-15T>A (n.1111-15T>A)
n.337-15T>A
n.295-15T>A
n.529-15T>A
c.2287-15T>A (n.2287-15T>A)
c.1996-15T>A (n.1996-15T>A)
c.931-15T>A (n.931-15T>A)
c.1060-15T>A (n.1060-15T>A)
c.2062-15T>A (n.2062-15T>A)
c.844-15T>A (n.844-15T>A)
c.2116-15T>A (n.2116-15T>A)
c.1018-15T>A (n.1018-15T>A)
n.6303-15T>A
c.2374-15T>A (n.2374-15T>A)
c.2281-15T>A (n.2281-15T>A)
c.2200-15T>A (n.2200-15T>A)
c.2176-15T>A (n.2176-15T>A)
c.2083-15T>A (n.2083-15T>A)
c.1309-15T>A (n.1309-15T>A)
c.1222-15T>A (n.1222-15T>A)
c.1135-15T>A (n.1135-15T>A)
c.772-1176T>A (n.772-1176T>A)
n.942-15T>A
 dbSNP gnomAD v3 gnomAD v4
17g.46023941T>CCA984131321MAPTc.1024-15T>C (n.1024-15T>C)
c.937-15T>C (n.937-15T>C)
c.1111-15T>C (n.1111-15T>C)
n.337-15T>C
n.295-15T>C
n.529-15T>C
c.2287-15T>C (n.2287-15T>C)
c.1996-15T>C (n.1996-15T>C)
c.931-15T>C (n.931-15T>C)
c.1060-15T>C (n.1060-15T>C)
c.2062-15T>C (n.2062-15T>C)
c.844-15T>C (n.844-15T>C)
c.2116-15T>C (n.2116-15T>C)
c.1018-15T>C (n.1018-15T>C)
n.6303-15T>C
c.2374-15T>C (n.2374-15T>C)
c.2281-15T>C (n.2281-15T>C)
c.2200-15T>C (n.2200-15T>C)
c.2176-15T>C (n.2176-15T>C)
c.2083-15T>C (n.2083-15T>C)
c.1309-15T>C (n.1309-15T>C)
c.1222-15T>C (n.1222-15T>C)
c.1135-15T>C (n.1135-15T>C)
c.772-1176T>C (n.772-1176T>C)
n.942-15T>C
 dbSNP gnomAD v3 gnomAD v4
17g.46023941T=CA2262106895MAPTc.1024-15T= (n.1024-15T=)
c.937-15T= (n.937-15T=)
c.1111-15T= (n.1111-15T=)
n.337-15T=
n.295-15T=
n.529-15T=
c.2287-15T= (n.2287-15T=)
c.1996-15T= (n.1996-15T=)
c.931-15T= (n.931-15T=)
c.1060-15T= (n.1060-15T=)
c.2062-15T= (n.2062-15T=)
c.844-15T= (n.844-15T=)
c.2116-15T= (n.2116-15T=)
c.1018-15T= (n.1018-15T=)
n.6303-15T=
c.2374-15T= (n.2374-15T=)
c.2281-15T= (n.2281-15T=)
c.2200-15T= (n.2200-15T=)
c.2176-15T= (n.2176-15T=)
c.2083-15T= (n.2083-15T=)
c.1309-15T= (n.1309-15T=)
c.1222-15T= (n.1222-15T=)
c.1135-15T= (n.1135-15T=)
c.772-1176T= (n.772-1176T=)
n.942-15T=
17g.46023943C>ACA2638368766MAPTc.1024-13C>A (n.1024-13C>A)
c.937-13C>A (n.937-13C>A)
c.1111-13C>A (n.1111-13C>A)
n.337-13C>A
n.295-13C>A
n.529-13C>A
c.2287-13C>A (n.2287-13C>A)
c.1996-13C>A (n.1996-13C>A)
c.931-13C>A (n.931-13C>A)
c.1060-13C>A (n.1060-13C>A)
c.2062-13C>A (n.2062-13C>A)
c.844-13C>A (n.844-13C>A)
c.2116-13C>A (n.2116-13C>A)
c.1018-13C>A (n.1018-13C>A)
n.6303-13C>A
c.2374-13C>A (n.2374-13C>A)
c.2281-13C>A (n.2281-13C>A)
c.2200-13C>A (n.2200-13C>A)
c.2176-13C>A (n.2176-13C>A)
c.2083-13C>A (n.2083-13C>A)
c.1309-13C>A (n.1309-13C>A)
c.1222-13C>A (n.1222-13C>A)
c.1135-13C>A (n.1135-13C>A)
c.772-1174C>A (n.772-1174C>A)
n.942-13C>A
 gnomAD v4
17g.46023943C>TCA2638368767MAPTc.1024-13C>T (n.1024-13C>T)
c.937-13C>T (n.937-13C>T)
c.1111-13C>T (n.1111-13C>T)
n.337-13C>T
n.295-13C>T
n.529-13C>T
c.2287-13C>T (n.2287-13C>T)
c.1996-13C>T (n.1996-13C>T)
c.931-13C>T (n.931-13C>T)
c.1060-13C>T (n.1060-13C>T)
c.2062-13C>T (n.2062-13C>T)
c.844-13C>T (n.844-13C>T)
c.2116-13C>T (n.2116-13C>T)
c.1018-13C>T (n.1018-13C>T)
n.6303-13C>T
c.2374-13C>T (n.2374-13C>T)
c.2281-13C>T (n.2281-13C>T)
c.2200-13C>T (n.2200-13C>T)
c.2176-13C>T (n.2176-13C>T)
c.2083-13C>T (n.2083-13C>T)
c.1309-13C>T (n.1309-13C>T)
c.1222-13C>T (n.1222-13C>T)
c.1135-13C>T (n.1135-13C>T)
c.772-1174C>T (n.772-1174C>T)
n.942-13C>T
 gnomAD v4
17g.46023944C>TCA2580093984MAPTc.1024-12C>T (n.1024-12C>T)
c.937-12C>T (n.937-12C>T)
c.1111-12C>T (n.1111-12C>T)
n.337-12C>T
n.295-12C>T
n.529-12C>T
c.2287-12C>T (n.2287-12C>T)
c.1996-12C>T (n.1996-12C>T)
c.931-12C>T (n.931-12C>T)
c.1060-12C>T (n.1060-12C>T)
c.2062-12C>T (n.2062-12C>T)
c.844-12C>T (n.844-12C>T)
c.2116-12C>T (n.2116-12C>T)
c.1018-12C>T (n.1018-12C>T)
n.6303-12C>T
c.2374-12C>T (n.2374-12C>T)
c.2281-12C>T (n.2281-12C>T)
c.2200-12C>T (n.2200-12C>T)
c.2176-12C>T (n.2176-12C>T)
c.2083-12C>T (n.2083-12C>T)
c.1309-12C>T (n.1309-12C>T)
c.1222-12C>T (n.1222-12C>T)
c.1135-12C>T (n.1135-12C>T)
c.772-1173C>T (n.772-1173C>T)
n.942-12C>T
 ClinVar gnomAD v4
17g.46023947T>CCA2638368774MAPTc.1024-9T>C (n.1024-9T>C)
c.937-9T>C (n.937-9T>C)
c.1111-9T>C (n.1111-9T>C)
n.337-9T>C
n.295-9T>C
n.529-9T>C
c.2287-9T>C (n.2287-9T>C)
c.1996-9T>C (n.1996-9T>C)
c.931-9T>C (n.931-9T>C)
c.1060-9T>C (n.1060-9T>C)
c.2062-9T>C (n.2062-9T>C)
c.844-9T>C (n.844-9T>C)
c.2116-9T>C (n.2116-9T>C)
c.1018-9T>C (n.1018-9T>C)
n.6303-9T>C
c.2374-9T>C (n.2374-9T>C)
c.2281-9T>C (n.2281-9T>C)
c.2200-9T>C (n.2200-9T>C)
c.2176-9T>C (n.2176-9T>C)
c.2083-9T>C (n.2083-9T>C)
c.1309-9T>C (n.1309-9T>C)
c.1222-9T>C (n.1222-9T>C)
c.1135-9T>C (n.1135-9T>C)
c.772-1170T>C (n.772-1170T>C)
n.942-9T>C
 gnomAD v4
17g.46023947T>GCA8618243MAPTc.1024-9T>G (n.1024-9T>G)
c.937-9T>G (n.937-9T>G)
c.1111-9T>G (n.1111-9T>G)
n.337-9T>G
n.295-9T>G
n.529-9T>G
c.2287-9T>G (n.2287-9T>G)
c.1996-9T>G (n.1996-9T>G)
c.931-9T>G (n.931-9T>G)
c.1060-9T>G (n.1060-9T>G)
c.2062-9T>G (n.2062-9T>G)
c.844-9T>G (n.844-9T>G)
c.2116-9T>G (n.2116-9T>G)
c.1018-9T>G (n.1018-9T>G)
n.6303-9T>G
c.2374-9T>G (n.2374-9T>G)
c.2281-9T>G (n.2281-9T>G)
c.2200-9T>G (n.2200-9T>G)
c.2176-9T>G (n.2176-9T>G)
c.2083-9T>G (n.2083-9T>G)
c.1309-9T>G (n.1309-9T>G)
c.1222-9T>G (n.1222-9T>G)
c.1135-9T>G (n.1135-9T>G)
c.772-1170T>G (n.772-1170T>G)
n.942-9T>G
 dbSNP ExAC gnomAD v2
17g.46023947T=CA2262106896MAPTc.1024-9T= (n.1024-9T=)
c.937-9T= (n.937-9T=)
c.1111-9T= (n.1111-9T=)
n.337-9T=
n.295-9T=
n.529-9T=
c.2287-9T= (n.2287-9T=)
c.1996-9T= (n.1996-9T=)
c.931-9T= (n.931-9T=)
c.1060-9T= (n.1060-9T=)
c.2062-9T= (n.2062-9T=)
c.844-9T= (n.844-9T=)
c.2116-9T= (n.2116-9T=)
c.1018-9T= (n.1018-9T=)
n.6303-9T=
c.2374-9T= (n.2374-9T=)
c.2281-9T= (n.2281-9T=)
c.2200-9T= (n.2200-9T=)
c.2176-9T= (n.2176-9T=)
c.2083-9T= (n.2083-9T=)
c.1309-9T= (n.1309-9T=)
c.1222-9T= (n.1222-9T=)
c.1135-9T= (n.1135-9T=)
c.772-1170T= (n.772-1170T=)
n.942-9T=
17g.46023949C=CA2262106897MAPTc.1024-7C= (n.1024-7C=)
c.937-7C= (n.937-7C=)
c.1111-7C= (n.1111-7C=)
n.337-7C=
n.295-7C=
n.529-7C=
c.2287-7C= (n.2287-7C=)
c.1996-7C= (n.1996-7C=)
c.931-7C= (n.931-7C=)
c.1060-7C= (n.1060-7C=)
c.2062-7C= (n.2062-7C=)
c.844-7C= (n.844-7C=)
c.2116-7C= (n.2116-7C=)
c.1018-7C= (n.1018-7C=)
n.6303-7C=
c.2374-7C= (n.2374-7C=)
c.2281-7C= (n.2281-7C=)
c.2200-7C= (n.2200-7C=)
c.2176-7C= (n.2176-7C=)
c.2083-7C= (n.2083-7C=)
c.1309-7C= (n.1309-7C=)
c.1222-7C= (n.1222-7C=)
c.1135-7C= (n.1135-7C=)
c.772-1168C= (n.772-1168C=)
n.942-7C=
17g.46023949C>TCA8618244MAPTc.1024-7C>T (n.1024-7C>T)
c.937-7C>T (n.937-7C>T)
c.1111-7C>T (n.1111-7C>T)
n.337-7C>T
n.295-7C>T
n.529-7C>T
c.2287-7C>T (n.2287-7C>T)
c.1996-7C>T (n.1996-7C>T)
c.931-7C>T (n.931-7C>T)
c.1060-7C>T (n.1060-7C>T)
c.2062-7C>T (n.2062-7C>T)
c.844-7C>T (n.844-7C>T)
c.2116-7C>T (n.2116-7C>T)
c.1018-7C>T (n.1018-7C>T)
n.6303-7C>T
c.2374-7C>T (n.2374-7C>T)
c.2281-7C>T (n.2281-7C>T)
c.2200-7C>T (n.2200-7C>T)
c.2176-7C>T (n.2176-7C>T)
c.2083-7C>T (n.2083-7C>T)
c.1309-7C>T (n.1309-7C>T)
c.1222-7C>T (n.1222-7C>T)
c.1135-7C>T (n.1135-7C>T)
c.772-1168C>T (n.772-1168C>T)
n.942-7C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46023950T>CCA2638368781MAPTc.1024-6T>C (n.1024-6T>C)
c.937-6T>C (n.937-6T>C)
c.1111-6T>C (n.1111-6T>C)
n.337-6T>C
n.295-6T>C
n.529-6T>C
c.2287-6T>C (n.2287-6T>C)
c.1996-6T>C (n.1996-6T>C)
c.931-6T>C (n.931-6T>C)
c.1060-6T>C (n.1060-6T>C)
c.2062-6T>C (n.2062-6T>C)
c.844-6T>C (n.844-6T>C)
c.2116-6T>C (n.2116-6T>C)
c.1018-6T>C (n.1018-6T>C)
n.6303-6T>C
c.2374-6T>C (n.2374-6T>C)
c.2281-6T>C (n.2281-6T>C)
c.2200-6T>C (n.2200-6T>C)
c.2176-6T>C (n.2176-6T>C)
c.2083-6T>C (n.2083-6T>C)
c.1309-6T>C (n.1309-6T>C)
c.1222-6T>C (n.1222-6T>C)
c.1135-6T>C (n.1135-6T>C)
c.772-1167T>C (n.772-1167T>C)
n.942-6T>C
 gnomAD v4
17g.46023950_46023952dupCA2638368780MAPTc.1024-6_1024-4dup (n.1024-6_1024-4dup)
c.937-6_937-4dup (n.937-6_937-4dup)
c.1111-6_1111-4dup (n.1111-6_1111-4dup)
n.337-6_337-4dup
n.295-6_295-4dup
n.529-6_529-4dup
c.2287-6_2287-4dup (n.2287-6_2287-4dup)
c.1996-6_1996-4dup (n.1996-6_1996-4dup)
c.931-6_931-4dup (n.931-6_931-4dup)
c.1060-6_1060-4dup (n.1060-6_1060-4dup)
c.2062-6_2062-4dup (n.2062-6_2062-4dup)
c.844-6_844-4dup (n.844-6_844-4dup)
c.2116-6_2116-4dup (n.2116-6_2116-4dup)
c.1018-6_1018-4dup (n.1018-6_1018-4dup)
n.6303-6_6303-4dup
c.2374-6_2374-4dup (n.2374-6_2374-4dup)
c.2281-6_2281-4dup (n.2281-6_2281-4dup)
c.2200-6_2200-4dup (n.2200-6_2200-4dup)
c.2176-6_2176-4dup (n.2176-6_2176-4dup)
c.2083-6_2083-4dup (n.2083-6_2083-4dup)
c.1309-6_1309-4dup (n.1309-6_1309-4dup)
c.1222-6_1222-4dup (n.1222-6_1222-4dup)
c.1135-6_1135-4dup (n.1135-6_1135-4dup)
c.772-1167_772-1165dup (n.772-1167_772-1165dup)
n.942-6_942-4dup
 gnomAD v4
17g.46023952G>ACA291117902MAPTc.1024-4G>A (n.1024-4G>A)
c.937-4G>A (n.937-4G>A)
c.1111-4G>A (n.1111-4G>A)
n.337-4G>A
n.295-4G>A
n.529-4G>A
c.2287-4G>A (n.2287-4G>A)
c.1996-4G>A (n.1996-4G>A)
c.931-4G>A (n.931-4G>A)
c.1060-4G>A (n.1060-4G>A)
c.2062-4G>A (n.2062-4G>A)
c.844-4G>A (n.844-4G>A)
c.2116-4G>A (n.2116-4G>A)
c.1018-4G>A (n.1018-4G>A)
n.6303-4G>A
c.2374-4G>A (n.2374-4G>A)
c.2281-4G>A (n.2281-4G>A)
c.2200-4G>A (n.2200-4G>A)
c.2176-4G>A (n.2176-4G>A)
c.2083-4G>A (n.2083-4G>A)
c.1309-4G>A (n.1309-4G>A)
c.1222-4G>A (n.1222-4G>A)
c.1135-4G>A (n.1135-4G>A)
c.772-1165G>A (n.772-1165G>A)
n.942-4G>A
 dbSNP
17g.46023952G=CA2262106898MAPTc.1024-4G= (n.1024-4G=)
c.937-4G= (n.937-4G=)
c.1111-4G= (n.1111-4G=)
n.337-4G=
n.295-4G=
n.529-4G=
c.2287-4G= (n.2287-4G=)
c.1996-4G= (n.1996-4G=)
c.931-4G= (n.931-4G=)
c.1060-4G= (n.1060-4G=)
c.2062-4G= (n.2062-4G=)
c.844-4G= (n.844-4G=)
c.2116-4G= (n.2116-4G=)
c.1018-4G= (n.1018-4G=)
n.6303-4G=
c.2374-4G= (n.2374-4G=)
c.2281-4G= (n.2281-4G=)
c.2200-4G= (n.2200-4G=)
c.2176-4G= (n.2176-4G=)
c.2083-4G= (n.2083-4G=)
c.1309-4G= (n.1309-4G=)
c.1222-4G= (n.1222-4G=)
c.1135-4G= (n.1135-4G=)
c.772-1165G= (n.772-1165G=)
n.942-4G=
17g.46023953C>ACA8618245MAPTc.1024-3C>A (n.1024-3C>A)
c.937-3C>A (n.937-3C>A)
c.1111-3C>A (n.1111-3C>A)
n.337-3C>A
n.295-3C>A
n.529-3C>A
c.2287-3C>A (n.2287-3C>A)
c.1996-3C>A (n.1996-3C>A)
c.931-3C>A (n.931-3C>A)
c.1060-3C>A (n.1060-3C>A)
c.2062-3C>A (n.2062-3C>A)
c.844-3C>A (n.844-3C>A)
c.2116-3C>A (n.2116-3C>A)
c.1018-3C>A (n.1018-3C>A)
n.6303-3C>A
c.2374-3C>A (n.2374-3C>A)
c.2281-3C>A (n.2281-3C>A)
c.2200-3C>A (n.2200-3C>A)
c.2176-3C>A (n.2176-3C>A)
c.2083-3C>A (n.2083-3C>A)
c.1309-3C>A (n.1309-3C>A)
c.1222-3C>A (n.1222-3C>A)
c.1135-3C>A (n.1135-3C>A)
c.772-1164C>A (n.772-1164C>A)
n.942-3C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46023953C=CA2262106899MAPTc.1024-3C= (n.1024-3C=)
c.937-3C= (n.937-3C=)
c.1111-3C= (n.1111-3C=)
n.337-3C=
n.295-3C=
n.529-3C=
c.2287-3C= (n.2287-3C=)
c.1996-3C= (n.1996-3C=)
c.931-3C= (n.931-3C=)
c.1060-3C= (n.1060-3C=)
c.2062-3C= (n.2062-3C=)
c.844-3C= (n.844-3C=)
c.2116-3C= (n.2116-3C=)
c.1018-3C= (n.1018-3C=)
n.6303-3C=
c.2374-3C= (n.2374-3C=)
c.2281-3C= (n.2281-3C=)
c.2200-3C= (n.2200-3C=)
c.2176-3C= (n.2176-3C=)
c.2083-3C= (n.2083-3C=)
c.1309-3C= (n.1309-3C=)
c.1222-3C= (n.1222-3C=)
c.1135-3C= (n.1135-3C=)
c.772-1164C= (n.772-1164C=)
n.942-3C=
17g.46023953C>TCA8618246MAPTc.1024-3C>T (n.1024-3C>T)
c.937-3C>T (n.937-3C>T)
c.1111-3C>T (n.1111-3C>T)
n.337-3C>T
n.295-3C>T
n.529-3C>T
c.2287-3C>T (n.2287-3C>T)
c.1996-3C>T (n.1996-3C>T)
c.931-3C>T (n.931-3C>T)
c.1060-3C>T (n.1060-3C>T)
c.2062-3C>T (n.2062-3C>T)
c.844-3C>T (n.844-3C>T)
c.2116-3C>T (n.2116-3C>T)
c.1018-3C>T (n.1018-3C>T)
n.6303-3C>T
c.2374-3C>T (n.2374-3C>T)
c.2281-3C>T (n.2281-3C>T)
c.2200-3C>T (n.2200-3C>T)
c.2176-3C>T (n.2176-3C>T)
c.2083-3C>T (n.2083-3C>T)
c.1309-3C>T (n.1309-3C>T)
c.1222-3C>T (n.1222-3C>T)
c.1135-3C>T (n.1135-3C>T)
c.772-1164C>T (n.772-1164C>T)
n.942-3C>T
 dbSNP ExAC gnomAD v2
17g.46023954A>CCA399984249MAPTc.1024-2A>C (n.1024-2A>C)
c.937-2A>C (n.937-2A>C)
c.1111-2A>C (n.1111-2A>C)
n.337-2A>C
n.295-2A>C
n.529-2A>C
c.2287-2A>C (n.2287-2A>C)
c.1996-2A>C (n.1996-2A>C)
c.931-2A>C (n.931-2A>C)
c.1060-2A>C (n.1060-2A>C)
c.2062-2A>C (n.2062-2A>C)
c.844-2A>C (n.844-2A>C)
c.2116-2A>C (n.2116-2A>C)
c.1018-2A>C (n.1018-2A>C)
n.6303-2A>C
c.2374-2A>C (n.2374-2A>C)
c.2281-2A>C (n.2281-2A>C)
c.2200-2A>C (n.2200-2A>C)
c.2176-2A>C (n.2176-2A>C)
c.2083-2A>C (n.2083-2A>C)
c.1309-2A>C (n.1309-2A>C)
c.1222-2A>C (n.1222-2A>C)
c.1135-2A>C (n.1135-2A>C)
c.772-1163A>C (n.772-1163A>C)
n.942-2A>C
17g.46023954A>GCA399984250MAPTc.1024-2A>G (n.1024-2A>G)
c.937-2A>G (n.937-2A>G)
c.1111-2A>G (n.1111-2A>G)
n.337-2A>G
n.295-2A>G
n.529-2A>G
c.2287-2A>G (n.2287-2A>G)
c.1996-2A>G (n.1996-2A>G)
c.931-2A>G (n.931-2A>G)
c.1060-2A>G (n.1060-2A>G)
c.2062-2A>G (n.2062-2A>G)
c.844-2A>G (n.844-2A>G)
c.2116-2A>G (n.2116-2A>G)
c.1018-2A>G (n.1018-2A>G)
n.6303-2A>G
c.2374-2A>G (n.2374-2A>G)
c.2281-2A>G (n.2281-2A>G)
c.2200-2A>G (n.2200-2A>G)
c.2176-2A>G (n.2176-2A>G)
c.2083-2A>G (n.2083-2A>G)
c.1309-2A>G (n.1309-2A>G)
c.1222-2A>G (n.1222-2A>G)
c.1135-2A>G (n.1135-2A>G)
c.772-1163A>G (n.772-1163A>G)
n.942-2A>G
 gnomAD v4
17g.46023954A>TCA399984251MAPTc.1024-2A>T (n.1024-2A>T)
c.937-2A>T (n.937-2A>T)
c.1111-2A>T (n.1111-2A>T)
n.337-2A>T
n.295-2A>T
n.529-2A>T
c.2287-2A>T (n.2287-2A>T)
c.1996-2A>T (n.1996-2A>T)
c.931-2A>T (n.931-2A>T)
c.1060-2A>T (n.1060-2A>T)
c.2062-2A>T (n.2062-2A>T)
c.844-2A>T (n.844-2A>T)
c.2116-2A>T (n.2116-2A>T)
c.1018-2A>T (n.1018-2A>T)
n.6303-2A>T
c.2374-2A>T (n.2374-2A>T)
c.2281-2A>T (n.2281-2A>T)
c.2200-2A>T (n.2200-2A>T)
c.2176-2A>T (n.2176-2A>T)
c.2083-2A>T (n.2083-2A>T)
c.1309-2A>T (n.1309-2A>T)
c.1222-2A>T (n.1222-2A>T)
c.1135-2A>T (n.1135-2A>T)
c.772-1163A>T (n.772-1163A>T)
n.942-2A>T
17g.46023955G>ACA399984252MAPTc.1024-1G>A (n.1024-1G>A)
c.937-1G>A (n.937-1G>A)
c.1111-1G>A (n.1111-1G>A)
n.337-1G>A
n.295-1G>A
n.529-1G>A
c.2287-1G>A (n.2287-1G>A)
c.1996-1G>A (n.1996-1G>A)
c.931-1G>A (n.931-1G>A)
c.1060-1G>A (n.1060-1G>A)
c.2062-1G>A (n.2062-1G>A)
c.844-1G>A (n.844-1G>A)
c.2116-1G>A (n.2116-1G>A)
c.1018-1G>A (n.1018-1G>A)
n.6303-1G>A
c.2374-1G>A (n.2374-1G>A)
c.2281-1G>A (n.2281-1G>A)
c.2200-1G>A (n.2200-1G>A)
c.2176-1G>A (n.2176-1G>A)
c.2083-1G>A (n.2083-1G>A)
c.1309-1G>A (n.1309-1G>A)
c.1222-1G>A (n.1222-1G>A)
c.1135-1G>A (n.1135-1G>A)
c.772-1162G>A (n.772-1162G>A)
n.942-1G>A
17g.46023955G>CCA399984254MAPTc.1024-1G>C (n.1024-1G>C)
c.937-1G>C (n.937-1G>C)
c.1111-1G>C (n.1111-1G>C)
n.337-1G>C
n.295-1G>C
n.529-1G>C
c.2287-1G>C (n.2287-1G>C)
c.1996-1G>C (n.1996-1G>C)
c.931-1G>C (n.931-1G>C)
c.1060-1G>C (n.1060-1G>C)
c.2062-1G>C (n.2062-1G>C)
c.844-1G>C (n.844-1G>C)
c.2116-1G>C (n.2116-1G>C)
c.1018-1G>C (n.1018-1G>C)
n.6303-1G>C
c.2374-1G>C (n.2374-1G>C)
c.2281-1G>C (n.2281-1G>C)
c.2200-1G>C (n.2200-1G>C)
c.2176-1G>C (n.2176-1G>C)
c.2083-1G>C (n.2083-1G>C)
c.1309-1G>C (n.1309-1G>C)
c.1222-1G>C (n.1222-1G>C)
c.1135-1G>C (n.1135-1G>C)
c.772-1162G>C (n.772-1162G>C)
n.942-1G>C
17g.46023955G>TCA399984253MAPTc.1024-1G>T (n.1024-1G>T)
c.937-1G>T (n.937-1G>T)
c.1111-1G>T (n.1111-1G>T)
n.337-1G>T
n.295-1G>T
n.529-1G>T
c.2287-1G>T (n.2287-1G>T)
c.1996-1G>T (n.1996-1G>T)
c.931-1G>T (n.931-1G>T)
c.1060-1G>T (n.1060-1G>T)
c.2062-1G>T (n.2062-1G>T)
c.844-1G>T (n.844-1G>T)
c.2116-1G>T (n.2116-1G>T)
c.1018-1G>T (n.1018-1G>T)
n.6303-1G>T
c.2374-1G>T (n.2374-1G>T)
c.2281-1G>T (n.2281-1G>T)
c.2200-1G>T (n.2200-1G>T)
c.2176-1G>T (n.2176-1G>T)
c.2083-1G>T (n.2083-1G>T)
c.1309-1G>T (n.1309-1G>T)
c.1222-1G>T (n.1222-1G>T)
c.1135-1G>T (n.1135-1G>T)
c.772-1162G>T (n.772-1162G>T)
n.942-1G>T
17g.46023956A>CCA399984255MAPTc.1024A>C (p.Ile342Leu)
c.937A>C (p.Ile313Leu)
c.1111A>C (p.Ile371Leu)
n.337A>C
n.295A>C
n.529A>C
c.2287A>C (p.Ile763Leu)
c.1996A>C (p.Ile666Leu)
c.931A>C (p.Ile311Leu)
c.1060A>C (p.Ile354Leu)
c.2062A>C (p.Ile688Leu)
c.844A>C (p.Ile282Leu)
c.2116A>C (p.Ile706Leu)
c.1018A>C (p.Ile340Leu)
n.6303A>C
c.2374A>C (p.Ile792Leu)
c.2281A>C (p.Ile761Leu)
c.2200A>C (p.Ile734Leu)
c.2176A>C (p.Ile726Leu)
c.2083A>C (p.Ile695Leu)
c.1309A>C (p.Ile437Leu)
c.1222A>C (p.Ile408Leu)
c.1135A>C (p.Ile379Leu)
c.772-1161A>C (n.772-1161A>C)
n.942A>C
17g.46023956A>GCA399984256MAPTc.1024A>G (p.Ile342Val)
c.937A>G (p.Ile313Val)
c.1111A>G (p.Ile371Val)
n.337A>G
n.295A>G
n.529A>G
c.2287A>G (p.Ile763Val)
c.1996A>G (p.Ile666Val)
c.931A>G (p.Ile311Val)
c.1060A>G (p.Ile354Val)
c.2062A>G (p.Ile688Val)
c.844A>G (p.Ile282Val)
c.2116A>G (p.Ile706Val)
c.1018A>G (p.Ile340Val)
n.6303A>G
c.2374A>G (p.Ile792Val)
c.2281A>G (p.Ile761Val)
c.2200A>G (p.Ile734Val)
c.2176A>G (p.Ile726Val)
c.2083A>G (p.Ile695Val)
c.1309A>G (p.Ile437Val)
c.1222A>G (p.Ile408Val)
c.1135A>G (p.Ile379Val)
c.772-1161A>G (n.772-1161A>G)
n.942A>G
17g.46023956A>TCA399984257MAPTc.1024A>T (p.Ile342Phe)
c.937A>T (p.Ile313Phe)
c.1111A>T (p.Ile371Phe)
n.337A>T
n.295A>T
n.529A>T
c.2287A>T (p.Ile763Phe)
c.1996A>T (p.Ile666Phe)
c.931A>T (p.Ile311Phe)
c.1060A>T (p.Ile354Phe)
c.2062A>T (p.Ile688Phe)
c.844A>T (p.Ile282Phe)
c.2116A>T (p.Ile706Phe)
c.1018A>T (p.Ile340Phe)
n.6303A>T
c.2374A>T (p.Ile792Phe)
c.2281A>T (p.Ile761Phe)
c.2200A>T (p.Ile734Phe)
c.2176A>T (p.Ile726Phe)
c.2083A>T (p.Ile695Phe)
c.1309A>T (p.Ile437Phe)
c.1222A>T (p.Ile408Phe)
c.1135A>T (p.Ile379Phe)
c.772-1161A>T (n.772-1161A>T)
n.942A>T
17g.46023957T>ACA399984258MAPTc.1025T>A (p.Ile342Asn)
c.938T>A (p.Ile313Asn)
c.1112T>A (p.Ile371Asn)
n.338T>A
n.296T>A
n.530T>A
c.2288T>A (p.Ile763Asn)
c.1997T>A (p.Ile666Asn)
c.932T>A (p.Ile311Asn)
c.1061T>A (p.Ile354Asn)
c.2063T>A (p.Ile688Asn)
c.845T>A (p.Ile282Asn)
c.2117T>A (p.Ile706Asn)
c.1019T>A (p.Ile340Asn)
n.6304T>A
c.2375T>A (p.Ile792Asn)
c.2282T>A (p.Ile761Asn)
c.2201T>A (p.Ile734Asn)
c.2177T>A (p.Ile726Asn)
c.2084T>A (p.Ile695Asn)
c.1310T>A (p.Ile437Asn)
c.1223T>A (p.Ile408Asn)
c.1136T>A (p.Ile379Asn)
c.772-1160T>A (n.772-1160T>A)
n.943T>A
17g.46023957T>CCA399984259MAPTc.1025T>C (p.Ile342Thr)
c.938T>C (p.Ile313Thr)
c.1112T>C (p.Ile371Thr)
n.338T>C
n.296T>C
n.530T>C
c.2288T>C (p.Ile763Thr)
c.1997T>C (p.Ile666Thr)
c.932T>C (p.Ile311Thr)
c.1061T>C (p.Ile354Thr)
c.2063T>C (p.Ile688Thr)
c.845T>C (p.Ile282Thr)
c.2117T>C (p.Ile706Thr)
c.1019T>C (p.Ile340Thr)
n.6304T>C
c.2375T>C (p.Ile792Thr)
c.2282T>C (p.Ile761Thr)
c.2201T>C (p.Ile734Thr)
c.2177T>C (p.Ile726Thr)
c.2084T>C (p.Ile695Thr)
c.1310T>C (p.Ile437Thr)
c.1223T>C (p.Ile408Thr)
c.1136T>C (p.Ile379Thr)
c.772-1160T>C (n.772-1160T>C)
n.943T>C
17g.46023957T>GCA399984260MAPTc.1025T>G (p.Ile342Ser)
c.938T>G (p.Ile313Ser)
c.1112T>G (p.Ile371Ser)
n.338T>G
n.296T>G
n.530T>G
c.2288T>G (p.Ile763Ser)
c.1997T>G (p.Ile666Ser)
c.932T>G (p.Ile311Ser)
c.1061T>G (p.Ile354Ser)
c.2063T>G (p.Ile688Ser)
c.845T>G (p.Ile282Ser)
c.2117T>G (p.Ile706Ser)
c.1019T>G (p.Ile340Ser)
n.6304T>G
c.2375T>G (p.Ile792Ser)
c.2282T>G (p.Ile761Ser)
c.2201T>G (p.Ile734Ser)
c.2177T>G (p.Ile726Ser)
c.2084T>G (p.Ile695Ser)
c.1310T>G (p.Ile437Ser)
c.1223T>G (p.Ile408Ser)
c.1136T>G (p.Ile379Ser)
c.772-1160T>G (n.772-1160T>G)
n.943T>G
17g.46023958T>ACA500371383MAPTc.1026T>A (p.Ile342=)
c.939T>A (p.Ile313=)
c.1113T>A (p.Ile371=)
n.339T>A
n.297T>A
n.531T>A
c.2289T>A (p.Ile763=)
c.1998T>A (p.Ile666=)
c.933T>A (p.Ile311=)
c.1062T>A (p.Ile354=)
c.2064T>A (p.Ile688=)
c.846T>A (p.Ile282=)
c.2118T>A (p.Ile706=)
c.1020T>A (p.Ile340=)
n.6305T>A
c.2376T>A (p.Ile792=)
c.2283T>A (p.Ile761=)
c.2202T>A (p.Ile734=)
c.2178T>A (p.Ile726=)
c.2085T>A (p.Ile695=)
c.1311T>A (p.Ile437=)
c.1224T>A (p.Ile408=)
c.1137T>A (p.Ile379=)
c.772-1159T>A (n.772-1159T>A)
n.944T>A
17g.46023958T>CCA500371382MAPTc.1026T>C (p.Ile342=)
c.939T>C (p.Ile313=)
c.1113T>C (p.Ile371=)
n.339T>C
n.297T>C
n.531T>C
c.2289T>C (p.Ile763=)
c.1998T>C (p.Ile666=)
c.933T>C (p.Ile311=)
c.1062T>C (p.Ile354=)
c.2064T>C (p.Ile688=)
c.846T>C (p.Ile282=)
c.2118T>C (p.Ile706=)
c.1020T>C (p.Ile340=)
n.6305T>C
c.2376T>C (p.Ile792=)
c.2283T>C (p.Ile761=)
c.2202T>C (p.Ile734=)
c.2178T>C (p.Ile726=)
c.2085T>C (p.Ile695=)
c.1311T>C (p.Ile437=)
c.1224T>C (p.Ile408=)
c.1137T>C (p.Ile379=)
c.772-1159T>C (n.772-1159T>C)
n.944T>C
17g.46023958T>GCA399984261MAPTc.1026T>G (p.Ile342Met)
c.939T>G (p.Ile313Met)
c.1113T>G (p.Ile371Met)
n.339T>G
n.297T>G
n.531T>G
c.2289T>G (p.Ile763Met)
c.1998T>G (p.Ile666Met)
c.933T>G (p.Ile311Met)
c.1062T>G (p.Ile354Met)
c.2064T>G (p.Ile688Met)
c.846T>G (p.Ile282Met)
c.2118T>G (p.Ile706Met)
c.1020T>G (p.Ile340Met)
n.6305T>G
c.2376T>G (p.Ile792Met)
c.2283T>G (p.Ile761Met)
c.2202T>G (p.Ile734Met)
c.2178T>G (p.Ile726Met)
c.2085T>G (p.Ile695Met)
c.1311T>G (p.Ile437Met)
c.1224T>G (p.Ile408Met)
c.1137T>G (p.Ile379Met)
c.772-1159T>G (n.772-1159T>G)
n.944T>G
17g.46023959G>ACA399984262MAPTc.1027G>A (p.Glu343Lys)
c.940G>A (p.Glu314Lys)
c.1114G>A (p.Glu372Lys)
n.340G>A
n.298G>A
n.532G>A
c.2290G>A (p.Glu764Lys)
c.1999G>A (p.Glu667Lys)
c.934G>A (p.Glu312Lys)
c.1063G>A (p.Glu355Lys)
c.2065G>A (p.Glu689Lys)
c.847G>A (p.Glu283Lys)
c.2119G>A (p.Glu707Lys)
c.1021G>A (p.Glu341Lys)
n.6306G>A
c.2377G>A (p.Glu793Lys)
c.2284G>A (p.Glu762Lys)
c.2203G>A (p.Glu735Lys)
c.2179G>A (p.Glu727Lys)
c.2086G>A (p.Glu696Lys)
c.1312G>A (p.Glu438Lys)
c.1225G>A (p.Glu409Lys)
c.1138G>A (p.Glu380Lys)
c.772-1158G>A (n.772-1158G>A)
n.945G>A
17g.46023959G>CCA399984263MAPTc.1027G>C (p.Glu343Gln)
c.940G>C (p.Glu314Gln)
c.1114G>C (p.Glu372Gln)
n.340G>C
n.298G>C
n.532G>C
c.2290G>C (p.Glu764Gln)
c.1999G>C (p.Glu667Gln)
c.934G>C (p.Glu312Gln)
c.1063G>C (p.Glu355Gln)
c.2065G>C (p.Glu689Gln)
c.847G>C (p.Glu283Gln)
c.2119G>C (p.Glu707Gln)
c.1021G>C (p.Glu341Gln)
n.6306G>C
c.2377G>C (p.Glu793Gln)
c.2284G>C (p.Glu762Gln)
c.2203G>C (p.Glu735Gln)
c.2179G>C (p.Glu727Gln)
c.2086G>C (p.Glu696Gln)
c.1312G>C (p.Glu438Gln)
c.1225G>C (p.Glu409Gln)
c.1138G>C (p.Glu380Gln)
c.772-1158G>C (n.772-1158G>C)
n.945G>C
17g.46023959G>TCA399984264MAPTc.1027G>T (p.Glu343Ter)
c.940G>T (p.Glu314Ter)
c.1114G>T (p.Glu372Ter)
n.340G>T
n.298G>T
n.532G>T
c.2290G>T (p.Glu764Ter)
c.1999G>T (p.Glu667Ter)
c.934G>T (p.Glu312Ter)
c.1063G>T (p.Glu355Ter)
c.2065G>T (p.Glu689Ter)
c.847G>T (p.Glu283Ter)
c.2119G>T (p.Glu707Ter)
c.1021G>T (p.Glu341Ter)
n.6306G>T
c.2377G>T (p.Glu793Ter)
c.2284G>T (p.Glu762Ter)
c.2203G>T (p.Glu735Ter)
c.2179G>T (p.Glu727Ter)
c.2086G>T (p.Glu696Ter)
c.1312G>T (p.Glu438Ter)
c.1225G>T (p.Glu409Ter)
c.1138G>T (p.Glu380Ter)
c.772-1158G>T (n.772-1158G>T)
n.945G>T
17g.46023960A>CCA399984266MAPTc.1028A>C (p.Glu343Ala)
c.941A>C (p.Glu314Ala)
c.1115A>C (p.Glu372Ala)
n.341A>C
n.299A>C
n.533A>C
c.2291A>C (p.Glu764Ala)
c.2000A>C (p.Glu667Ala)
c.935A>C (p.Glu312Ala)
c.1064A>C (p.Glu355Ala)
c.2066A>C (p.Glu689Ala)
c.848A>C (p.Glu283Ala)
c.2120A>C (p.Glu707Ala)
c.1022A>C (p.Glu341Ala)
n.6307A>C
c.2378A>C (p.Glu793Ala)
c.2285A>C (p.Glu762Ala)
c.2204A>C (p.Glu735Ala)
c.2180A>C (p.Glu727Ala)
c.2087A>C (p.Glu696Ala)
c.1313A>C (p.Glu438Ala)
c.1226A>C (p.Glu409Ala)
c.1139A>C (p.Glu380Ala)
c.772-1157A>C (n.772-1157A>C)
n.946A>C
17g.46023960A>GCA399984267MAPTc.1028A>G (p.Glu343Gly)
c.941A>G (p.Glu314Gly)
c.1115A>G (p.Glu372Gly)
n.341A>G
n.299A>G
n.533A>G
c.2291A>G (p.Glu764Gly)
c.2000A>G (p.Glu667Gly)
c.935A>G (p.Glu312Gly)
c.1064A>G (p.Glu355Gly)
c.2066A>G (p.Glu689Gly)
c.848A>G (p.Glu283Gly)
c.2120A>G (p.Glu707Gly)
c.1022A>G (p.Glu341Gly)
n.6307A>G
c.2378A>G (p.Glu793Gly)
c.2285A>G (p.Glu762Gly)
c.2204A>G (p.Glu735Gly)
c.2180A>G (p.Glu727Gly)
c.2087A>G (p.Glu696Gly)
c.1313A>G (p.Glu438Gly)
c.1226A>G (p.Glu409Gly)
c.1139A>G (p.Glu380Gly)
c.772-1157A>G (n.772-1157A>G)
n.946A>G
17g.46023960A>TCA399984265MAPTc.1028A>T (p.Glu343Val)
c.941A>T (p.Glu314Val)
c.1115A>T (p.Glu372Val)
n.341A>T
n.299A>T
n.533A>T
c.2291A>T (p.Glu764Val)
c.2000A>T (p.Glu667Val)
c.935A>T (p.Glu312Val)
c.1064A>T (p.Glu355Val)
c.2066A>T (p.Glu689Val)
c.848A>T (p.Glu283Val)
c.2120A>T (p.Glu707Val)
c.1022A>T (p.Glu341Val)
n.6307A>T
c.2378A>T (p.Glu793Val)
c.2285A>T (p.Glu762Val)
c.2204A>T (p.Glu735Val)
c.2180A>T (p.Glu727Val)
c.2087A>T (p.Glu696Val)
c.1313A>T (p.Glu438Val)
c.1226A>T (p.Glu409Val)
c.1139A>T (p.Glu380Val)
c.772-1157A>T (n.772-1157A>T)
n.946A>T
17g.46023961A>CCA399984268MAPTc.1029A>C (p.Glu343Asp)
c.942A>C (p.Glu314Asp)
c.1116A>C (p.Glu372Asp)
n.342A>C
n.300A>C
n.534A>C
c.2292A>C (p.Glu764Asp)
c.2001A>C (p.Glu667Asp)
c.936A>C (p.Glu312Asp)
c.1065A>C (p.Glu355Asp)
c.2067A>C (p.Glu689Asp)
c.849A>C (p.Glu283Asp)
c.2121A>C (p.Glu707Asp)
c.1023A>C (p.Glu341Asp)
n.6308A>C
c.2379A>C (p.Glu793Asp)
c.2286A>C (p.Glu762Asp)
c.2205A>C (p.Glu735Asp)
c.2181A>C (p.Glu727Asp)
c.2088A>C (p.Glu696Asp)
c.1314A>C (p.Glu438Asp)
c.1227A>C (p.Glu409Asp)
c.1140A>C (p.Glu380Asp)
c.772-1156A>C (n.772-1156A>C)
n.947A>C
17g.46023961A>GCA500371384MAPTc.1029A>G (p.Glu343=)
c.942A>G (p.Glu314=)
c.1116A>G (p.Glu372=)
n.342A>G
n.300A>G
n.534A>G
c.2292A>G (p.Glu764=)
c.2001A>G (p.Glu667=)
c.936A>G (p.Glu312=)
c.1065A>G (p.Glu355=)
c.2067A>G (p.Glu689=)
c.849A>G (p.Glu283=)
c.2121A>G (p.Glu707=)
c.1023A>G (p.Glu341=)
n.6308A>G
c.2379A>G (p.Glu793=)
c.2286A>G (p.Glu762=)
c.2205A>G (p.Glu735=)
c.2181A>G (p.Glu727=)
c.2088A>G (p.Glu696=)
c.1314A>G (p.Glu438=)
c.1227A>G (p.Glu409=)
c.1140A>G (p.Glu380=)
c.772-1156A>G (n.772-1156A>G)
n.947A>G
17g.46023961A>TCA399984269MAPTc.1029A>T (p.Glu343Asp)
c.942A>T (p.Glu314Asp)
c.1116A>T (p.Glu372Asp)
n.342A>T
n.300A>T
n.534A>T
c.2292A>T (p.Glu764Asp)
c.2001A>T (p.Glu667Asp)
c.936A>T (p.Glu312Asp)
c.1065A>T (p.Glu355Asp)
c.2067A>T (p.Glu689Asp)
c.849A>T (p.Glu283Asp)
c.2121A>T (p.Glu707Asp)
c.1023A>T (p.Glu341Asp)
n.6308A>T
c.2379A>T (p.Glu793Asp)
c.2286A>T (p.Glu762Asp)
c.2205A>T (p.Glu735Asp)
c.2181A>T (p.Glu727Asp)
c.2088A>T (p.Glu696Asp)
c.1314A>T (p.Glu438Asp)
c.1227A>T (p.Glu409Asp)
c.1140A>T (p.Glu380Asp)
c.772-1156A>T (n.772-1156A>T)
n.947A>T
17g.46023962A>CCA399984270MAPTc.1030A>C (p.Thr344Pro)
c.943A>C (p.Thr315Pro)
c.1117A>C (p.Thr373Pro)
n.343A>C
n.301A>C
n.535A>C
c.2293A>C (p.Thr765Pro)
c.2002A>C (p.Thr668Pro)
c.937A>C (p.Thr313Pro)
c.1066A>C (p.Thr356Pro)
c.2068A>C (p.Thr690Pro)
c.850A>C (p.Thr284Pro)
c.2122A>C (p.Thr708Pro)
c.1024A>C (p.Thr342Pro)
n.6309A>C
c.2380A>C (p.Thr794Pro)
c.2287A>C (p.Thr763Pro)
c.2206A>C (p.Thr736Pro)
c.2182A>C (p.Thr728Pro)
c.2089A>C (p.Thr697Pro)
c.1315A>C (p.Thr439Pro)
c.1228A>C (p.Thr410Pro)
c.1141A>C (p.Thr381Pro)
c.772-1155A>C (n.772-1155A>C)
n.948A>C
17g.46023962A>GCA399984271MAPTc.1030A>G (p.Thr344Ala)
c.943A>G (p.Thr315Ala)
c.1117A>G (p.Thr373Ala)
n.343A>G
n.301A>G
n.535A>G
c.2293A>G (p.Thr765Ala)
c.2002A>G (p.Thr668Ala)
c.937A>G (p.Thr313Ala)
c.1066A>G (p.Thr356Ala)
c.2068A>G (p.Thr690Ala)
c.850A>G (p.Thr284Ala)
c.2122A>G (p.Thr708Ala)
c.1024A>G (p.Thr342Ala)
n.6309A>G
c.2380A>G (p.Thr794Ala)
c.2287A>G (p.Thr763Ala)
c.2206A>G (p.Thr736Ala)
c.2182A>G (p.Thr728Ala)
c.2089A>G (p.Thr697Ala)
c.1315A>G (p.Thr439Ala)
c.1228A>G (p.Thr410Ala)
c.1141A>G (p.Thr381Ala)
c.772-1155A>G (n.772-1155A>G)
n.948A>G
17g.46023962A>TCA399984272MAPTc.1030A>T (p.Thr344Ser)
c.943A>T (p.Thr315Ser)
c.1117A>T (p.Thr373Ser)
n.343A>T
n.301A>T
n.535A>T
c.2293A>T (p.Thr765Ser)
c.2002A>T (p.Thr668Ser)
c.937A>T (p.Thr313Ser)
c.1066A>T (p.Thr356Ser)
c.2068A>T (p.Thr690Ser)
c.850A>T (p.Thr284Ser)
c.2122A>T (p.Thr708Ser)
c.1024A>T (p.Thr342Ser)
n.6309A>T
c.2380A>T (p.Thr794Ser)
c.2287A>T (p.Thr763Ser)
c.2206A>T (p.Thr736Ser)
c.2182A>T (p.Thr728Ser)
c.2089A>T (p.Thr697Ser)
c.1315A>T (p.Thr439Ser)
c.1228A>T (p.Thr410Ser)
c.1141A>T (p.Thr381Ser)
c.772-1155A>T (n.772-1155A>T)
n.948A>T
17g.46023963C>ACA399984273MAPTc.1031C>A (p.Thr344Asn)
c.944C>A (p.Thr315Asn)
c.1118C>A (p.Thr373Asn)
n.344C>A
n.302C>A
n.536C>A
c.2294C>A (p.Thr765Asn)
c.2003C>A (p.Thr668Asn)
c.938C>A (p.Thr313Asn)
c.1067C>A (p.Thr356Asn)
c.2069C>A (p.Thr690Asn)
c.851C>A (p.Thr284Asn)
c.2123C>A (p.Thr708Asn)
c.1025C>A (p.Thr342Asn)
n.6310C>A
c.2381C>A (p.Thr794Asn)
c.2288C>A (p.Thr763Asn)
c.2207C>A (p.Thr736Asn)
c.2183C>A (p.Thr728Asn)
c.2090C>A (p.Thr697Asn)
c.1316C>A (p.Thr439Asn)
c.1229C>A (p.Thr410Asn)
c.1142C>A (p.Thr381Asn)
c.772-1154C>A (n.772-1154C>A)
n.949C>A
17g.46023963C=CA2262106900MAPTc.1031C= (p.Thr344=)
c.944C= (p.Thr315=)
c.1118C= (p.Thr373=)
n.344C=
n.302C=
n.536C=
c.2294C= (p.Thr765=)
c.2003C= (p.Thr668=)
c.938C= (p.Thr313=)
c.1067C= (p.Thr356=)
c.2069C= (p.Thr690=)
c.851C= (p.Thr284=)
c.2123C= (p.Thr708=)
c.1025C= (p.Thr342=)
n.6310C=
c.2381C= (p.Thr794=)
c.2288C= (p.Thr763=)
c.2207C= (p.Thr736=)
c.2183C= (p.Thr728=)
c.2090C= (p.Thr697=)
c.1316C= (p.Thr439=)
c.1229C= (p.Thr410=)
c.1142C= (p.Thr381=)
c.772-1154C= (n.772-1154C=)
n.949C=
17g.46023963C>GCA399984274MAPTc.1031C>G (p.Thr344Ser)
c.944C>G (p.Thr315Ser)
c.1118C>G (p.Thr373Ser)
n.344C>G
n.302C>G
n.536C>G
c.2294C>G (p.Thr765Ser)
c.2003C>G (p.Thr668Ser)
c.938C>G (p.Thr313Ser)
c.1067C>G (p.Thr356Ser)
c.2069C>G (p.Thr690Ser)
c.851C>G (p.Thr284Ser)
c.2123C>G (p.Thr708Ser)
c.1025C>G (p.Thr342Ser)
n.6310C>G
c.2381C>G (p.Thr794Ser)
c.2288C>G (p.Thr763Ser)
c.2207C>G (p.Thr736Ser)
c.2183C>G (p.Thr728Ser)
c.2090C>G (p.Thr697Ser)
c.1316C>G (p.Thr439Ser)
c.1229C>G (p.Thr410Ser)
c.1142C>G (p.Thr381Ser)
c.772-1154C>G (n.772-1154C>G)
n.949C>G
17g.46023963C>TCA399984275MAPTc.1031C>T (p.Thr344Ile)
c.944C>T (p.Thr315Ile)
c.1118C>T (p.Thr373Ile)
n.344C>T
n.302C>T
n.536C>T
c.2294C>T (p.Thr765Ile)
c.2003C>T (p.Thr668Ile)
c.938C>T (p.Thr313Ile)
c.1067C>T (p.Thr356Ile)
c.2069C>T (p.Thr690Ile)
c.851C>T (p.Thr284Ile)
c.2123C>T (p.Thr708Ile)
c.1025C>T (p.Thr342Ile)
n.6310C>T
c.2381C>T (p.Thr794Ile)
c.2288C>T (p.Thr763Ile)
c.2207C>T (p.Thr736Ile)
c.2183C>T (p.Thr728Ile)
c.2090C>T (p.Thr697Ile)
c.1316C>T (p.Thr439Ile)
c.1229C>T (p.Thr410Ile)
c.1142C>T (p.Thr381Ile)
c.772-1154C>T (n.772-1154C>T)
n.949C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46023964C>ACA500371386MAPTc.1032C>A (p.Thr344=)
c.945C>A (p.Thr315=)
c.1119C>A (p.Thr373=)
n.345C>A
n.303C>A
n.537C>A
c.2295C>A (p.Thr765=)
c.2004C>A (p.Thr668=)
c.939C>A (p.Thr313=)
c.1068C>A (p.Thr356=)
c.2070C>A (p.Thr690=)
c.852C>A (p.Thr284=)
c.2124C>A (p.Thr708=)
c.1026C>A (p.Thr342=)
n.6311C>A
c.2382C>A (p.Thr794=)
c.2289C>A (p.Thr763=)
c.2208C>A (p.Thr736=)
c.2184C>A (p.Thr728=)
c.2091C>A (p.Thr697=)
c.1317C>A (p.Thr439=)
c.1230C>A (p.Thr410=)
c.1143C>A (p.Thr381=)
c.772-1153C>A (n.772-1153C>A)
n.950C>A
17g.46023964C>GCA500371387MAPTc.1032C>G (p.Thr344=)
c.945C>G (p.Thr315=)
c.1119C>G (p.Thr373=)
n.345C>G
n.303C>G
n.537C>G
c.2295C>G (p.Thr765=)
c.2004C>G (p.Thr668=)
c.939C>G (p.Thr313=)
c.1068C>G (p.Thr356=)
c.2070C>G (p.Thr690=)
c.852C>G (p.Thr284=)
c.2124C>G (p.Thr708=)
c.1026C>G (p.Thr342=)
n.6311C>G
c.2382C>G (p.Thr794=)
c.2289C>G (p.Thr763=)
c.2208C>G (p.Thr736=)
c.2184C>G (p.Thr728=)
c.2091C>G (p.Thr697=)
c.1317C>G (p.Thr439=)
c.1230C>G (p.Thr410=)
c.1143C>G (p.Thr381=)
c.772-1153C>G (n.772-1153C>G)
n.950C>G
17g.46023964C>TCA500371385MAPTc.1032C>T (p.Thr344=)
c.945C>T (p.Thr315=)
c.1119C>T (p.Thr373=)
n.345C>T
n.303C>T
n.537C>T
c.2295C>T (p.Thr765=)
c.2004C>T (p.Thr668=)
c.939C>T (p.Thr313=)
c.1068C>T (p.Thr356=)
c.2070C>T (p.Thr690=)
c.852C>T (p.Thr284=)
c.2124C>T (p.Thr708=)
c.1026C>T (p.Thr342=)
n.6311C>T
c.2382C>T (p.Thr794=)
c.2289C>T (p.Thr763=)
c.2208C>T (p.Thr736=)
c.2184C>T (p.Thr728=)
c.2091C>T (p.Thr697=)
c.1317C>T (p.Thr439=)
c.1230C>T (p.Thr410=)
c.1143C>T (p.Thr381=)
c.772-1153C>T (n.772-1153C>T)
n.950C>T
17g.46023965C>ACA399984276MAPTc.1033C>A (p.His345Asn)
c.946C>A (p.His316Asn)
c.1120C>A (p.His374Asn)
n.346C>A
n.304C>A
n.538C>A
c.2296C>A (p.His766Asn)
c.2005C>A (p.His669Asn)
c.940C>A (p.His314Asn)
c.1069C>A (p.His357Asn)
c.2071C>A (p.His691Asn)
c.853C>A (p.His285Asn)
c.2125C>A (p.His709Asn)
c.1027C>A (p.His343Asn)
n.6312C>A
c.2383C>A (p.His795Asn)
c.2290C>A (p.His764Asn)
c.2209C>A (p.His737Asn)
c.2185C>A (p.His729Asn)
c.2092C>A (p.His698Asn)
c.1318C>A (p.His440Asn)
c.1231C>A (p.His411Asn)
c.1144C>A (p.His382Asn)
c.772-1152C>A (n.772-1152C>A)
n.951C>A
17g.46023965C>GCA399984277MAPTc.1033C>G (p.His345Asp)
c.946C>G (p.His316Asp)
c.1120C>G (p.His374Asp)
n.346C>G
n.304C>G
n.538C>G
c.2296C>G (p.His766Asp)
c.2005C>G (p.His669Asp)
c.940C>G (p.His314Asp)
c.1069C>G (p.His357Asp)
c.2071C>G (p.His691Asp)
c.853C>G (p.His285Asp)
c.2125C>G (p.His709Asp)
c.1027C>G (p.His343Asp)
n.6312C>G
c.2383C>G (p.His795Asp)
c.2290C>G (p.His764Asp)
c.2209C>G (p.His737Asp)
c.2185C>G (p.His729Asp)
c.2092C>G (p.His698Asp)
c.1318C>G (p.His440Asp)
c.1231C>G (p.His411Asp)
c.1144C>G (p.His382Asp)
c.772-1152C>G (n.772-1152C>G)
n.951C>G
17g.46023965C>TCA399984278MAPTc.1033C>T (p.His345Tyr)
c.946C>T (p.His316Tyr)
c.1120C>T (p.His374Tyr)
n.346C>T
n.304C>T
n.538C>T
c.2296C>T (p.His766Tyr)
c.2005C>T (p.His669Tyr)
c.940C>T (p.His314Tyr)
c.1069C>T (p.His357Tyr)
c.2071C>T (p.His691Tyr)
c.853C>T (p.His285Tyr)
c.2125C>T (p.His709Tyr)
c.1027C>T (p.His343Tyr)
n.6312C>T
c.2383C>T (p.His795Tyr)
c.2290C>T (p.His764Tyr)
c.2209C>T (p.His737Tyr)
c.2185C>T (p.His729Tyr)
c.2092C>T (p.His698Tyr)
c.1318C>T (p.His440Tyr)
c.1231C>T (p.His411Tyr)
c.1144C>T (p.His382Tyr)
c.772-1152C>T (n.772-1152C>T)
n.951C>T
17g.46023966A>CCA399984279MAPTc.1034A>C (p.His345Pro)
c.947A>C (p.His316Pro)
c.1121A>C (p.His374Pro)
n.347A>C
n.305A>C
n.539A>C
c.2297A>C (p.His766Pro)
c.2006A>C (p.His669Pro)
c.941A>C (p.His314Pro)
c.1070A>C (p.His357Pro)
c.2072A>C (p.His691Pro)
c.854A>C (p.His285Pro)
c.2126A>C (p.His709Pro)
c.1028A>C (p.His343Pro)
n.6313A>C
c.2384A>C (p.His795Pro)
c.2291A>C (p.His764Pro)
c.2210A>C (p.His737Pro)
c.2186A>C (p.His729Pro)
c.2093A>C (p.His698Pro)
c.1319A>C (p.His440Pro)
c.1232A>C (p.His411Pro)
c.1145A>C (p.His382Pro)
c.772-1151A>C (n.772-1151A>C)
n.952A>C
17g.46023966A>GCA399984280MAPTc.1034A>G (p.His345Arg)
c.947A>G (p.His316Arg)
c.1121A>G (p.His374Arg)
n.347A>G
n.305A>G
n.539A>G
c.2297A>G (p.His766Arg)
c.2006A>G (p.His669Arg)
c.941A>G (p.His314Arg)
c.1070A>G (p.His357Arg)
c.2072A>G (p.His691Arg)
c.854A>G (p.His285Arg)
c.2126A>G (p.His709Arg)
c.1028A>G (p.His343Arg)
n.6313A>G
c.2384A>G (p.His795Arg)
c.2291A>G (p.His764Arg)
c.2210A>G (p.His737Arg)
c.2186A>G (p.His729Arg)
c.2093A>G (p.His698Arg)
c.1319A>G (p.His440Arg)
c.1232A>G (p.His411Arg)
c.1145A>G (p.His382Arg)
c.772-1151A>G (n.772-1151A>G)
n.952A>G
17g.46023966A>TCA399984281MAPTc.1034A>T (p.His345Leu)
c.947A>T (p.His316Leu)
c.1121A>T (p.His374Leu)
n.347A>T
n.305A>T
n.539A>T
c.2297A>T (p.His766Leu)
c.2006A>T (p.His669Leu)
c.941A>T (p.His314Leu)
c.1070A>T (p.His357Leu)
c.2072A>T (p.His691Leu)
c.854A>T (p.His285Leu)
c.2126A>T (p.His709Leu)
c.1028A>T (p.His343Leu)
n.6313A>T
c.2384A>T (p.His795Leu)
c.2291A>T (p.His764Leu)
c.2210A>T (p.His737Leu)
c.2186A>T (p.His729Leu)
c.2093A>T (p.His698Leu)
c.1319A>T (p.His440Leu)
c.1232A>T (p.His411Leu)
c.1145A>T (p.His382Leu)
c.772-1151A>T (n.772-1151A>T)
n.952A>T
17g.46023967C>ACA399984282MAPTc.1035C>A (p.His345Gln)
c.948C>A (p.His316Gln)
c.1122C>A (p.His374Gln)
n.348C>A
n.306C>A
n.540C>A
c.2298C>A (p.His766Gln)
c.2007C>A (p.His669Gln)
c.942C>A (p.His314Gln)
c.1071C>A (p.His357Gln)
c.2073C>A (p.His691Gln)
c.855C>A (p.His285Gln)
c.2127C>A (p.His709Gln)
c.1029C>A (p.His343Gln)
n.6314C>A
c.2385C>A (p.His795Gln)
c.2292C>A (p.His764Gln)
c.2211C>A (p.His737Gln)
c.2187C>A (p.His729Gln)
c.2094C>A (p.His698Gln)
c.1320C>A (p.His440Gln)
c.1233C>A (p.His411Gln)
c.1146C>A (p.His382Gln)
c.772-1150C>A (n.772-1150C>A)
n.953C>A
17g.46023967C>GCA399984283MAPTc.1035C>G (p.His345Gln)
c.948C>G (p.His316Gln)
c.1122C>G (p.His374Gln)
n.348C>G
n.306C>G
n.540C>G
c.2298C>G (p.His766Gln)
c.2007C>G (p.His669Gln)
c.942C>G (p.His314Gln)
c.1071C>G (p.His357Gln)
c.2073C>G (p.His691Gln)
c.855C>G (p.His285Gln)
c.2127C>G (p.His709Gln)
c.1029C>G (p.His343Gln)
n.6314C>G
c.2385C>G (p.His795Gln)
c.2292C>G (p.His764Gln)
c.2211C>G (p.His737Gln)
c.2187C>G (p.His729Gln)
c.2094C>G (p.His698Gln)
c.1320C>G (p.His440Gln)
c.1233C>G (p.His411Gln)
c.1146C>G (p.His382Gln)
c.772-1150C>G (n.772-1150C>G)
n.953C>G
17g.46023967C>TCA500371388MAPTc.1035C>T (p.His345=)
c.948C>T (p.His316=)
c.1122C>T (p.His374=)
n.348C>T
n.306C>T
n.540C>T
c.2298C>T (p.His766=)
c.2007C>T (p.His669=)
c.942C>T (p.His314=)
c.1071C>T (p.His357=)
c.2073C>T (p.His691=)
c.855C>T (p.His285=)
c.2127C>T (p.His709=)
c.1029C>T (p.His343=)
n.6314C>T
c.2385C>T (p.His795=)
c.2292C>T (p.His764=)
c.2211C>T (p.His737=)
c.2187C>T (p.His729=)
c.2094C>T (p.His698=)
c.1320C>T (p.His440=)
c.1233C>T (p.His411=)
c.1146C>T (p.His382=)
c.772-1150C>T (n.772-1150C>T)
n.953C>T
17g.46023968A>CCA399984284MAPTc.1036A>C (p.Lys346Gln)
c.949A>C (p.Lys317Gln)
c.1123A>C (p.Lys375Gln)
n.349A>C
n.307A>C
n.541A>C
c.2299A>C (p.Lys767Gln)
c.2008A>C (p.Lys670Gln)
c.943A>C (p.Lys315Gln)
c.1072A>C (p.Lys358Gln)
c.2074A>C (p.Lys692Gln)
c.856A>C (p.Lys286Gln)
c.2128A>C (p.Lys710Gln)
c.1030A>C (p.Lys344Gln)
n.6315A>C
c.2386A>C (p.Lys796Gln)
c.2293A>C (p.Lys765Gln)
c.2212A>C (p.Lys738Gln)
c.2188A>C (p.Lys730Gln)
c.2095A>C (p.Lys699Gln)
c.1321A>C (p.Lys441Gln)
c.1234A>C (p.Lys412Gln)
c.1147A>C (p.Lys383Gln)
c.772-1149A>C (n.772-1149A>C)
n.954A>C
17g.46023968A>GCA399984285MAPTc.1036A>G (p.Lys346Glu)
c.949A>G (p.Lys317Glu)
c.1123A>G (p.Lys375Glu)
n.349A>G
n.307A>G
n.541A>G
c.2299A>G (p.Lys767Glu)
c.2008A>G (p.Lys670Glu)
c.943A>G (p.Lys315Glu)
c.1072A>G (p.Lys358Glu)
c.2074A>G (p.Lys692Glu)
c.856A>G (p.Lys286Glu)
c.2128A>G (p.Lys710Glu)
c.1030A>G (p.Lys344Glu)
n.6315A>G
c.2386A>G (p.Lys796Glu)
c.2293A>G (p.Lys765Glu)
c.2212A>G (p.Lys738Glu)
c.2188A>G (p.Lys730Glu)
c.2095A>G (p.Lys699Glu)
c.1321A>G (p.Lys441Glu)
c.1234A>G (p.Lys412Glu)
c.1147A>G (p.Lys383Glu)
c.772-1149A>G (n.772-1149A>G)
n.954A>G
17g.46023968A>TCA399984286MAPTc.1036A>T (p.Lys346Ter)
c.949A>T (p.Lys317Ter)
c.1123A>T (p.Lys375Ter)
n.349A>T
n.307A>T
n.541A>T
c.2299A>T (p.Lys767Ter)
c.2008A>T (p.Lys670Ter)
c.943A>T (p.Lys315Ter)
c.1072A>T (p.Lys358Ter)
c.2074A>T (p.Lys692Ter)
c.856A>T (p.Lys286Ter)
c.2128A>T (p.Lys710Ter)
c.1030A>T (p.Lys344Ter)
n.6315A>T
c.2386A>T (p.Lys796Ter)
c.2293A>T (p.Lys765Ter)
c.2212A>T (p.Lys738Ter)
c.2188A>T (p.Lys730Ter)
c.2095A>T (p.Lys699Ter)
c.1321A>T (p.Lys441Ter)
c.1234A>T (p.Lys412Ter)
c.1147A>T (p.Lys383Ter)
c.772-1149A>T (n.772-1149A>T)
n.954A>T
17g.46023969A>CCA399984287MAPTc.1037A>C (p.Lys346Thr)
c.950A>C (p.Lys317Thr)
c.1124A>C (p.Lys375Thr)
n.350A>C
n.308A>C
n.542A>C
c.2300A>C (p.Lys767Thr)
c.2009A>C (p.Lys670Thr)
c.944A>C (p.Lys315Thr)
c.1073A>C (p.Lys358Thr)
c.2075A>C (p.Lys692Thr)
c.857A>C (p.Lys286Thr)
c.2129A>C (p.Lys710Thr)
c.1031A>C (p.Lys344Thr)
n.6316A>C
c.2387A>C (p.Lys796Thr)
c.2294A>C (p.Lys765Thr)
c.2213A>C (p.Lys738Thr)
c.2189A>C (p.Lys730Thr)
c.2096A>C (p.Lys699Thr)
c.1322A>C (p.Lys441Thr)
c.1235A>C (p.Lys412Thr)
c.1148A>C (p.Lys383Thr)
c.772-1148A>C (n.772-1148A>C)
n.955A>C
17g.46023969A>GCA399984288MAPTc.1037A>G (p.Lys346Arg)
c.950A>G (p.Lys317Arg)
c.1124A>G (p.Lys375Arg)
n.350A>G
n.308A>G
n.542A>G
c.2300A>G (p.Lys767Arg)
c.2009A>G (p.Lys670Arg)
c.944A>G (p.Lys315Arg)
c.1073A>G (p.Lys358Arg)
c.2075A>G (p.Lys692Arg)
c.857A>G (p.Lys286Arg)
c.2129A>G (p.Lys710Arg)
c.1031A>G (p.Lys344Arg)
n.6316A>G
c.2387A>G (p.Lys796Arg)
c.2294A>G (p.Lys765Arg)
c.2213A>G (p.Lys738Arg)
c.2189A>G (p.Lys730Arg)
c.2096A>G (p.Lys699Arg)
c.1322A>G (p.Lys441Arg)
c.1235A>G (p.Lys412Arg)
c.1148A>G (p.Lys383Arg)
c.772-1148A>G (n.772-1148A>G)
n.955A>G
 gnomAD v4
17g.46023969A>TCA399984289MAPTc.1037A>T (p.Lys346Met)
c.950A>T (p.Lys317Met)
c.1124A>T (p.Lys375Met)
n.350A>T
n.308A>T
n.542A>T
c.2300A>T (p.Lys767Met)
c.2009A>T (p.Lys670Met)
c.944A>T (p.Lys315Met)
c.1073A>T (p.Lys358Met)
c.2075A>T (p.Lys692Met)
c.857A>T (p.Lys286Met)
c.2129A>T (p.Lys710Met)
c.1031A>T (p.Lys344Met)
n.6316A>T
c.2387A>T (p.Lys796Met)
c.2294A>T (p.Lys765Met)
c.2213A>T (p.Lys738Met)
c.2189A>T (p.Lys730Met)
c.2096A>T (p.Lys699Met)
c.1322A>T (p.Lys441Met)
c.1235A>T (p.Lys412Met)
c.1148A>T (p.Lys383Met)
c.772-1148A>T (n.772-1148A>T)
n.955A>T
17g.46023970G>ACA500371389MAPTc.1038G>A (p.Lys346=)
c.951G>A (p.Lys317=)
c.1125G>A (p.Lys375=)
n.351G>A
n.309G>A
n.543G>A
c.2301G>A (p.Lys767=)
c.2010G>A (p.Lys670=)
c.945G>A (p.Lys315=)
c.1074G>A (p.Lys358=)
c.2076G>A (p.Lys692=)
c.858G>A (p.Lys286=)
c.2130G>A (p.Lys710=)
c.1032G>A (p.Lys344=)
n.6317G>A
c.2388G>A (p.Lys796=)
c.2295G>A (p.Lys765=)
c.2214G>A (p.Lys738=)
c.2190G>A (p.Lys730=)
c.2097G>A (p.Lys699=)
c.1323G>A (p.Lys441=)
c.1236G>A (p.Lys412=)
c.1149G>A (p.Lys383=)
c.772-1147G>A (n.772-1147G>A)
n.956G>A
 gnomAD v4
17g.46023970G>CCA399984290MAPTc.1038G>C (p.Lys346Asn)
c.951G>C (p.Lys317Asn)
c.1125G>C (p.Lys375Asn)
n.351G>C
n.309G>C
n.543G>C
c.2301G>C (p.Lys767Asn)
c.2010G>C (p.Lys670Asn)
c.945G>C (p.Lys315Asn)
c.1074G>C (p.Lys358Asn)
c.2076G>C (p.Lys692Asn)
c.858G>C (p.Lys286Asn)
c.2130G>C (p.Lys710Asn)
c.1032G>C (p.Lys344Asn)
n.6317G>C
c.2388G>C (p.Lys796Asn)
c.2295G>C (p.Lys765Asn)
c.2214G>C (p.Lys738Asn)
c.2190G>C (p.Lys730Asn)
c.2097G>C (p.Lys699Asn)
c.1323G>C (p.Lys441Asn)
c.1236G>C (p.Lys412Asn)
c.1149G>C (p.Lys383Asn)
c.772-1147G>C (n.772-1147G>C)
n.956G>C
17g.46023970G>TCA399984291MAPTc.1038G>T (p.Lys346Asn)
c.951G>T (p.Lys317Asn)
c.1125G>T (p.Lys375Asn)
n.351G>T
n.309G>T
n.543G>T
c.2301G>T (p.Lys767Asn)
c.2010G>T (p.Lys670Asn)
c.945G>T (p.Lys315Asn)
c.1074G>T (p.Lys358Asn)
c.2076G>T (p.Lys692Asn)
c.858G>T (p.Lys286Asn)
c.2130G>T (p.Lys710Asn)
c.1032G>T (p.Lys344Asn)
n.6317G>T
c.2388G>T (p.Lys796Asn)
c.2295G>T (p.Lys765Asn)
c.2214G>T (p.Lys738Asn)
c.2190G>T (p.Lys730Asn)
c.2097G>T (p.Lys699Asn)
c.1323G>T (p.Lys441Asn)
c.1236G>T (p.Lys412Asn)
c.1149G>T (p.Lys383Asn)
c.772-1147G>T (n.772-1147G>T)
n.956G>T
17g.46023971C>ACA399984292MAPTc.1039C>A (p.Leu347Met)
c.952C>A (p.Leu318Met)
c.1126C>A (p.Leu376Met)
n.352C>A
n.310C>A
n.544C>A
c.2302C>A (p.Leu768Met)
c.2011C>A (p.Leu671Met)
c.946C>A (p.Leu316Met)
c.1075C>A (p.Leu359Met)
c.2077C>A (p.Leu693Met)
c.859C>A (p.Leu287Met)
c.2131C>A (p.Leu711Met)
c.1033C>A (p.Leu345Met)
n.6318C>A
c.2389C>A (p.Leu797Met)
c.2296C>A (p.Leu766Met)
c.2215C>A (p.Leu739Met)
c.2191C>A (p.Leu731Met)
c.2098C>A (p.Leu700Met)
c.1324C>A (p.Leu442Met)
c.1237C>A (p.Leu413Met)
c.1150C>A (p.Leu384Met)
c.772-1146C>A (n.772-1146C>A)
n.957C>A
17g.46023971C=CA2262106901MAPTc.1039C= (p.Leu347=)
c.952C= (p.Leu318=)
c.1126C= (p.Leu376=)
n.352C=
n.310C=
n.544C=
c.2302C= (p.Leu768=)
c.2011C= (p.Leu671=)
c.946C= (p.Leu316=)
c.1075C= (p.Leu359=)
c.2077C= (p.Leu693=)
c.859C= (p.Leu287=)
c.2131C= (p.Leu711=)
c.1033C= (p.Leu345=)
n.6318C=
c.2389C= (p.Leu797=)
c.2296C= (p.Leu766=)
c.2215C= (p.Leu739=)
c.2191C= (p.Leu731=)
c.2098C= (p.Leu700=)
c.1324C= (p.Leu442=)
c.1237C= (p.Leu413=)
c.1150C= (p.Leu384=)
c.772-1146C= (n.772-1146C=)
n.957C=
17g.46023971C>GCA399984293MAPTc.1039C>G (p.Leu347Val)
c.952C>G (p.Leu318Val)
c.1126C>G (p.Leu376Val)
n.352C>G
n.310C>G
n.544C>G
c.2302C>G (p.Leu768Val)
c.2011C>G (p.Leu671Val)
c.946C>G (p.Leu316Val)
c.1075C>G (p.Leu359Val)
c.2077C>G (p.Leu693Val)
c.859C>G (p.Leu287Val)
c.2131C>G (p.Leu711Val)
c.1033C>G (p.Leu345Val)
n.6318C>G
c.2389C>G (p.Leu797Val)
c.2296C>G (p.Leu766Val)
c.2215C>G (p.Leu739Val)
c.2191C>G (p.Leu731Val)
c.2098C>G (p.Leu700Val)
c.1324C>G (p.Leu442Val)
c.1237C>G (p.Leu413Val)
c.1150C>G (p.Leu384Val)
c.772-1146C>G (n.772-1146C>G)
n.957C>G
 ClinVar dbSNP
17g.46023971C>TCA500371390MAPTc.1039C>T (p.Leu347=)
c.952C>T (p.Leu318=)
c.1126C>T (p.Leu376=)
n.352C>T
n.310C>T
n.544C>T
c.2302C>T (p.Leu768=)
c.2011C>T (p.Leu671=)
c.946C>T (p.Leu316=)
c.1075C>T (p.Leu359=)
c.2077C>T (p.Leu693=)
c.859C>T (p.Leu287=)
c.2131C>T (p.Leu711=)
c.1033C>T (p.Leu345=)
n.6318C>T
c.2389C>T (p.Leu797=)
c.2296C>T (p.Leu766=)
c.2215C>T (p.Leu739=)
c.2191C>T (p.Leu731=)
c.2098C>T (p.Leu700=)
c.1324C>T (p.Leu442=)
c.1237C>T (p.Leu413=)
c.1150C>T (p.Leu384=)
c.772-1146C>T (n.772-1146C>T)
n.957C>T
 dbSNP gnomAD v4
17g.46023972T>ACA399984294MAPTc.1040T>A (p.Leu347Gln)
c.953T>A (p.Leu318Gln)
c.1127T>A (p.Leu376Gln)
n.353T>A
n.311T>A
n.545T>A
c.2303T>A (p.Leu768Gln)
c.2012T>A (p.Leu671Gln)
c.947T>A (p.Leu316Gln)
c.1076T>A (p.Leu359Gln)
c.2078T>A (p.Leu693Gln)
c.860T>A (p.Leu287Gln)
c.2132T>A (p.Leu711Gln)
c.1034T>A (p.Leu345Gln)
n.6319T>A
c.2390T>A (p.Leu797Gln)
c.2297T>A (p.Leu766Gln)
c.2216T>A (p.Leu739Gln)
c.2192T>A (p.Leu731Gln)
c.2099T>A (p.Leu700Gln)
c.1325T>A (p.Leu442Gln)
c.1238T>A (p.Leu413Gln)
c.1151T>A (p.Leu384Gln)
c.772-1145T>A (n.772-1145T>A)
n.958T>A
 gnomAD v4
17g.46023972T>CCA399984295MAPTc.1040T>C (p.Leu347Pro)
c.953T>C (p.Leu318Pro)
c.1127T>C (p.Leu376Pro)
n.353T>C
n.311T>C
n.545T>C
c.2303T>C (p.Leu768Pro)
c.2012T>C (p.Leu671Pro)
c.947T>C (p.Leu316Pro)
c.1076T>C (p.Leu359Pro)
c.2078T>C (p.Leu693Pro)
c.860T>C (p.Leu287Pro)
c.2132T>C (p.Leu711Pro)
c.1034T>C (p.Leu345Pro)
n.6319T>C
c.2390T>C (p.Leu797Pro)
c.2297T>C (p.Leu766Pro)
c.2216T>C (p.Leu739Pro)
c.2192T>C (p.Leu731Pro)
c.2099T>C (p.Leu700Pro)
c.1325T>C (p.Leu442Pro)
c.1238T>C (p.Leu413Pro)
c.1151T>C (p.Leu384Pro)
c.772-1145T>C (n.772-1145T>C)
n.958T>C
17g.46023972T>GCA399984296MAPTc.1040T>G (p.Leu347Arg)
c.953T>G (p.Leu318Arg)
c.1127T>G (p.Leu376Arg)
n.353T>G
n.311T>G
n.545T>G
c.2303T>G (p.Leu768Arg)
c.2012T>G (p.Leu671Arg)
c.947T>G (p.Leu316Arg)
c.1076T>G (p.Leu359Arg)
c.2078T>G (p.Leu693Arg)
c.860T>G (p.Leu287Arg)
c.2132T>G (p.Leu711Arg)
c.1034T>G (p.Leu345Arg)
n.6319T>G
c.2390T>G (p.Leu797Arg)
c.2297T>G (p.Leu766Arg)
c.2216T>G (p.Leu739Arg)
c.2192T>G (p.Leu731Arg)
c.2099T>G (p.Leu700Arg)
c.1325T>G (p.Leu442Arg)
c.1238T>G (p.Leu413Arg)
c.1151T>G (p.Leu384Arg)
c.772-1145T>G (n.772-1145T>G)
n.958T>G
17g.46023973G>ACA500371393MAPTc.1041G>A (p.Leu347=)
c.954G>A (p.Leu318=)
c.1128G>A (p.Leu376=)
n.354G>A
n.312G>A
n.546G>A
c.2304G>A (p.Leu768=)
c.2013G>A (p.Leu671=)
c.948G>A (p.Leu316=)
c.1077G>A (p.Leu359=)
c.2079G>A (p.Leu693=)
c.861G>A (p.Leu287=)
c.2133G>A (p.Leu711=)
c.1035G>A (p.Leu345=)
n.6320G>A
c.2391G>A (p.Leu797=)
c.2298G>A (p.Leu766=)
c.2217G>A (p.Leu739=)
c.2193G>A (p.Leu731=)
c.2100G>A (p.Leu700=)
c.1326G>A (p.Leu442=)
c.1239G>A (p.Leu413=)
c.1152G>A (p.Leu384=)
c.772-1144G>A (n.772-1144G>A)
n.959G>A
17g.46023973G>CCA500371392MAPTc.1041G>C (p.Leu347=)
c.954G>C (p.Leu318=)
c.1128G>C (p.Leu376=)
n.354G>C
n.312G>C
n.546G>C
c.2304G>C (p.Leu768=)
c.2013G>C (p.Leu671=)
c.948G>C (p.Leu316=)
c.1077G>C (p.Leu359=)
c.2079G>C (p.Leu693=)
c.861G>C (p.Leu287=)
c.2133G>C (p.Leu711=)
c.1035G>C (p.Leu345=)
n.6320G>C
c.2391G>C (p.Leu797=)
c.2298G>C (p.Leu766=)
c.2217G>C (p.Leu739=)
c.2193G>C (p.Leu731=)
c.2100G>C (p.Leu700=)
c.1326G>C (p.Leu442=)
c.1239G>C (p.Leu413=)
c.1152G>C (p.Leu384=)
c.772-1144G>C (n.772-1144G>C)
n.959G>C
17g.46023973G>TCA500371391MAPTc.1041G>T (p.Leu347=)
c.954G>T (p.Leu318=)
c.1128G>T (p.Leu376=)
n.354G>T
n.312G>T
n.546G>T
c.2304G>T (p.Leu768=)
c.2013G>T (p.Leu671=)
c.948G>T (p.Leu316=)
c.1077G>T (p.Leu359=)
c.2079G>T (p.Leu693=)
c.861G>T (p.Leu287=)
c.2133G>T (p.Leu711=)
c.1035G>T (p.Leu345=)
n.6320G>T
c.2391G>T (p.Leu797=)
c.2298G>T (p.Leu766=)
c.2217G>T (p.Leu739=)
c.2193G>T (p.Leu731=)
c.2100G>T (p.Leu700=)
c.1326G>T (p.Leu442=)
c.1239G>T (p.Leu413=)
c.1152G>T (p.Leu384=)
c.772-1144G>T (n.772-1144G>T)
n.959G>T
17g.46023974A>CCA399984299MAPTc.1042A>C (p.Thr348Pro)
c.955A>C (p.Thr319Pro)
c.1129A>C (p.Thr377Pro)
n.355A>C
n.313A>C
n.547A>C
c.2305A>C (p.Thr769Pro)
c.2014A>C (p.Thr672Pro)
c.949A>C (p.Thr317Pro)
c.1078A>C (p.Thr360Pro)
c.2080A>C (p.Thr694Pro)
c.862A>C (p.Thr288Pro)
c.2134A>C (p.Thr712Pro)
c.1036A>C (p.Thr346Pro)
n.6321A>C
c.2392A>C (p.Thr798Pro)
c.2299A>C (p.Thr767Pro)
c.2218A>C (p.Thr740Pro)
c.2194A>C (p.Thr732Pro)
c.2101A>C (p.Thr701Pro)
c.1327A>C (p.Thr443Pro)
c.1240A>C (p.Thr414Pro)
c.1153A>C (p.Thr385Pro)
c.772-1143A>C (n.772-1143A>C)
n.960A>C
17g.46023974A>GCA399984298MAPTc.1042A>G (p.Thr348Ala)
c.955A>G (p.Thr319Ala)
c.1129A>G (p.Thr377Ala)
n.355A>G
n.313A>G
n.547A>G
c.2305A>G (p.Thr769Ala)
c.2014A>G (p.Thr672Ala)
c.949A>G (p.Thr317Ala)
c.1078A>G (p.Thr360Ala)
c.2080A>G (p.Thr694Ala)
c.862A>G (p.Thr288Ala)
c.2134A>G (p.Thr712Ala)
c.1036A>G (p.Thr346Ala)
n.6321A>G
c.2392A>G (p.Thr798Ala)
c.2299A>G (p.Thr767Ala)
c.2218A>G (p.Thr740Ala)
c.2194A>G (p.Thr732Ala)
c.2101A>G (p.Thr701Ala)
c.1327A>G (p.Thr443Ala)
c.1240A>G (p.Thr414Ala)
c.1153A>G (p.Thr385Ala)
c.772-1143A>G (n.772-1143A>G)
n.960A>G
17g.46023974A>TCA399984297MAPTc.1042A>T (p.Thr348Ser)
c.955A>T (p.Thr319Ser)
c.1129A>T (p.Thr377Ser)
n.355A>T
n.313A>T
n.547A>T
c.2305A>T (p.Thr769Ser)
c.2014A>T (p.Thr672Ser)
c.949A>T (p.Thr317Ser)
c.1078A>T (p.Thr360Ser)
c.2080A>T (p.Thr694Ser)
c.862A>T (p.Thr288Ser)
c.2134A>T (p.Thr712Ser)
c.1036A>T (p.Thr346Ser)
n.6321A>T
c.2392A>T (p.Thr798Ser)
c.2299A>T (p.Thr767Ser)
c.2218A>T (p.Thr740Ser)
c.2194A>T (p.Thr732Ser)
c.2101A>T (p.Thr701Ser)
c.1327A>T (p.Thr443Ser)
c.1240A>T (p.Thr414Ser)
c.1153A>T (p.Thr385Ser)
c.772-1143A>T (n.772-1143A>T)
n.960A>T
17g.46023975C>ACA399984300MAPTc.1043C>A (p.Thr348Asn)
c.956C>A (p.Thr319Asn)
c.1130C>A (p.Thr377Asn)
n.356C>A
n.314C>A
n.548C>A
c.2306C>A (p.Thr769Asn)
c.2015C>A (p.Thr672Asn)
c.950C>A (p.Thr317Asn)
c.1079C>A (p.Thr360Asn)
c.2081C>A (p.Thr694Asn)
c.863C>A (p.Thr288Asn)
c.2135C>A (p.Thr712Asn)
c.1037C>A (p.Thr346Asn)
n.6322C>A
c.2393C>A (p.Thr798Asn)
c.2300C>A (p.Thr767Asn)
c.2219C>A (p.Thr740Asn)
c.2195C>A (p.Thr732Asn)
c.2102C>A (p.Thr701Asn)
c.1328C>A (p.Thr443Asn)
c.1241C>A (p.Thr414Asn)
c.1154C>A (p.Thr385Asn)
c.772-1142C>A (n.772-1142C>A)
n.961C>A
17g.46023975C>GCA399984302MAPTc.1043C>G (p.Thr348Ser)
c.956C>G (p.Thr319Ser)
c.1130C>G (p.Thr377Ser)
n.356C>G
n.314C>G
n.548C>G
c.2306C>G (p.Thr769Ser)
c.2015C>G (p.Thr672Ser)
c.950C>G (p.Thr317Ser)
c.1079C>G (p.Thr360Ser)
c.2081C>G (p.Thr694Ser)
c.863C>G (p.Thr288Ser)
c.2135C>G (p.Thr712Ser)
c.1037C>G (p.Thr346Ser)
n.6322C>G
c.2393C>G (p.Thr798Ser)
c.2300C>G (p.Thr767Ser)
c.2219C>G (p.Thr740Ser)
c.2195C>G (p.Thr732Ser)
c.2102C>G (p.Thr701Ser)
c.1328C>G (p.Thr443Ser)
c.1241C>G (p.Thr414Ser)
c.1154C>G (p.Thr385Ser)
c.772-1142C>G (n.772-1142C>G)
n.961C>G
17g.46023975C>TCA399984301MAPTc.1043C>T (p.Thr348Ile)
c.956C>T (p.Thr319Ile)
c.1130C>T (p.Thr377Ile)
n.356C>T
n.314C>T
n.548C>T
c.2306C>T (p.Thr769Ile)
c.2015C>T (p.Thr672Ile)
c.950C>T (p.Thr317Ile)
c.1079C>T (p.Thr360Ile)
c.2081C>T (p.Thr694Ile)
c.863C>T (p.Thr288Ile)
c.2135C>T (p.Thr712Ile)
c.1037C>T (p.Thr346Ile)
n.6322C>T
c.2393C>T (p.Thr798Ile)
c.2300C>T (p.Thr767Ile)
c.2219C>T (p.Thr740Ile)
c.2195C>T (p.Thr732Ile)
c.2102C>T (p.Thr701Ile)
c.1328C>T (p.Thr443Ile)
c.1241C>T (p.Thr414Ile)
c.1154C>T (p.Thr385Ile)
c.772-1142C>T (n.772-1142C>T)
n.961C>T
17g.46023976C>ACA500371395MAPTc.1044C>A (p.Thr348=)
c.957C>A (p.Thr319=)
c.1131C>A (p.Thr377=)
n.357C>A
n.315C>A
n.549C>A
c.2307C>A (p.Thr769=)
c.2016C>A (p.Thr672=)
c.951C>A (p.Thr317=)
c.1080C>A (p.Thr360=)
c.2082C>A (p.Thr694=)
c.864C>A (p.Thr288=)
c.2136C>A (p.Thr712=)
c.1038C>A (p.Thr346=)
n.6323C>A
c.2394C>A (p.Thr798=)
c.2301C>A (p.Thr767=)
c.2220C>A (p.Thr740=)
c.2196C>A (p.Thr732=)
c.2103C>A (p.Thr701=)
c.1329C>A (p.Thr443=)
c.1242C>A (p.Thr414=)
c.1155C>A (p.Thr385=)
c.772-1141C>A (n.772-1141C>A)
n.962C>A
 dbSNP
17g.46023976C=CA2262106902MAPTc.1044C= (p.Thr348=)
c.957C= (p.Thr319=)
c.1131C= (p.Thr377=)
n.357C=
n.315C=
n.549C=
c.2307C= (p.Thr769=)
c.2016C= (p.Thr672=)
c.951C= (p.Thr317=)
c.1080C= (p.Thr360=)
c.2082C= (p.Thr694=)
c.864C= (p.Thr288=)
c.2136C= (p.Thr712=)
c.1038C= (p.Thr346=)
n.6323C=
c.2394C= (p.Thr798=)
c.2301C= (p.Thr767=)
c.2220C= (p.Thr740=)
c.2196C= (p.Thr732=)
c.2103C= (p.Thr701=)
c.1329C= (p.Thr443=)
c.1242C= (p.Thr414=)
c.1155C= (p.Thr385=)
c.772-1141C= (n.772-1141C=)
n.962C=
17g.46023976C>GCA500371396MAPTc.1044C>G (p.Thr348=)
c.957C>G (p.Thr319=)
c.1131C>G (p.Thr377=)
n.357C>G
n.315C>G
n.549C>G
c.2307C>G (p.Thr769=)
c.2016C>G (p.Thr672=)
c.951C>G (p.Thr317=)
c.1080C>G (p.Thr360=)
c.2082C>G (p.Thr694=)
c.864C>G (p.Thr288=)
c.2136C>G (p.Thr712=)
c.1038C>G (p.Thr346=)
n.6323C>G
c.2394C>G (p.Thr798=)
c.2301C>G (p.Thr767=)
c.2220C>G (p.Thr740=)
c.2196C>G (p.Thr732=)
c.2103C>G (p.Thr701=)
c.1329C>G (p.Thr443=)
c.1242C>G (p.Thr414=)
c.1155C>G (p.Thr385=)
c.772-1141C>G (n.772-1141C>G)
n.962C>G
17g.46023976C>TCA500371394MAPTc.1044C>T (p.Thr348=)
c.957C>T (p.Thr319=)
c.1131C>T (p.Thr377=)
n.357C>T
n.315C>T
n.549C>T
c.2307C>T (p.Thr769=)
c.2016C>T (p.Thr672=)
c.951C>T (p.Thr317=)
c.1080C>T (p.Thr360=)
c.2082C>T (p.Thr694=)
c.864C>T (p.Thr288=)
c.2136C>T (p.Thr712=)
c.1038C>T (p.Thr346=)
n.6323C>T
c.2394C>T (p.Thr798=)
c.2301C>T (p.Thr767=)
c.2220C>T (p.Thr740=)
c.2196C>T (p.Thr732=)
c.2103C>T (p.Thr701=)
c.1329C>T (p.Thr443=)
c.1242C>T (p.Thr414=)
c.1155C>T (p.Thr385=)
c.772-1141C>T (n.772-1141C>T)
n.962C>T
17g.46023977T>ACA399984303MAPTc.1045T>A (p.Phe349Ile)
c.958T>A (p.Phe320Ile)
c.1132T>A (p.Phe378Ile)
n.358T>A
n.316T>A
n.550T>A
c.2308T>A (p.Phe770Ile)
c.2017T>A (p.Phe673Ile)
c.952T>A (p.Phe318Ile)
c.1081T>A (p.Phe361Ile)
c.2083T>A (p.Phe695Ile)
c.865T>A (p.Phe289Ile)
c.2137T>A (p.Phe713Ile)
c.1039T>A (p.Phe347Ile)
n.6324T>A
c.2395T>A (p.Phe799Ile)
c.2302T>A (p.Phe768Ile)
c.2221T>A (p.Phe741Ile)
c.2197T>A (p.Phe733Ile)
c.2104T>A (p.Phe702Ile)
c.1330T>A (p.Phe444Ile)
c.1243T>A (p.Phe415Ile)
c.1156T>A (p.Phe386Ile)
c.772-1140T>A (n.772-1140T>A)
n.963T>A
17g.46023977T>CCA399984305MAPTc.1045T>C (p.Phe349Leu)
c.958T>C (p.Phe320Leu)
c.1132T>C (p.Phe378Leu)
n.358T>C
n.316T>C
n.550T>C
c.2308T>C (p.Phe770Leu)
c.2017T>C (p.Phe673Leu)
c.952T>C (p.Phe318Leu)
c.1081T>C (p.Phe361Leu)
c.2083T>C (p.Phe695Leu)
c.865T>C (p.Phe289Leu)
c.2137T>C (p.Phe713Leu)
c.1039T>C (p.Phe347Leu)
n.6324T>C
c.2395T>C (p.Phe799Leu)
c.2302T>C (p.Phe768Leu)
c.2221T>C (p.Phe741Leu)
c.2197T>C (p.Phe733Leu)
c.2104T>C (p.Phe702Leu)
c.1330T>C (p.Phe444Leu)
c.1243T>C (p.Phe415Leu)
c.1156T>C (p.Phe386Leu)
c.772-1140T>C (n.772-1140T>C)
n.963T>C
17g.46023977T>GCA399984304MAPTc.1045T>G (p.Phe349Val)
c.958T>G (p.Phe320Val)
c.1132T>G (p.Phe378Val)
n.358T>G
n.316T>G
n.550T>G
c.2308T>G (p.Phe770Val)
c.2017T>G (p.Phe673Val)
c.952T>G (p.Phe318Val)
c.1081T>G (p.Phe361Val)
c.2083T>G (p.Phe695Val)
c.865T>G (p.Phe289Val)
c.2137T>G (p.Phe713Val)
c.1039T>G (p.Phe347Val)
n.6324T>G
c.2395T>G (p.Phe799Val)
c.2302T>G (p.Phe768Val)
c.2221T>G (p.Phe741Val)
c.2197T>G (p.Phe733Val)
c.2104T>G (p.Phe702Val)
c.1330T>G (p.Phe444Val)
c.1243T>G (p.Phe415Val)
c.1156T>G (p.Phe386Val)
c.772-1140T>G (n.772-1140T>G)
n.963T>G
17g.46023978T>ACA399984306MAPTc.1046T>A (p.Phe349Tyr)
c.959T>A (p.Phe320Tyr)
c.1133T>A (p.Phe378Tyr)
n.359T>A
n.317T>A
n.551T>A
c.2309T>A (p.Phe770Tyr)
c.2018T>A (p.Phe673Tyr)
c.953T>A (p.Phe318Tyr)
c.1082T>A (p.Phe361Tyr)
c.2084T>A (p.Phe695Tyr)
c.866T>A (p.Phe289Tyr)
c.2138T>A (p.Phe713Tyr)
c.1040T>A (p.Phe347Tyr)
n.6325T>A
c.2396T>A (p.Phe799Tyr)
c.2303T>A (p.Phe768Tyr)
c.2222T>A (p.Phe741Tyr)
c.2198T>A (p.Phe733Tyr)
c.2105T>A (p.Phe702Tyr)
c.1331T>A (p.Phe444Tyr)
c.1244T>A (p.Phe415Tyr)
c.1157T>A (p.Phe386Tyr)
c.772-1139T>A (n.772-1139T>A)
n.964T>A
17g.46023978T>CCA399984307MAPTc.1046T>C (p.Phe349Ser)
c.959T>C (p.Phe320Ser)
c.1133T>C (p.Phe378Ser)
n.359T>C
n.317T>C
n.551T>C
c.2309T>C (p.Phe770Ser)
c.2018T>C (p.Phe673Ser)
c.953T>C (p.Phe318Ser)
c.1082T>C (p.Phe361Ser)
c.2084T>C (p.Phe695Ser)
c.866T>C (p.Phe289Ser)
c.2138T>C (p.Phe713Ser)
c.1040T>C (p.Phe347Ser)
n.6325T>C
c.2396T>C (p.Phe799Ser)
c.2303T>C (p.Phe768Ser)
c.2222T>C (p.Phe741Ser)
c.2198T>C (p.Phe733Ser)
c.2105T>C (p.Phe702Ser)
c.1331T>C (p.Phe444Ser)
c.1244T>C (p.Phe415Ser)
c.1157T>C (p.Phe386Ser)
c.772-1139T>C (n.772-1139T>C)
n.964T>C
17g.46023978T>GCA399984308MAPTc.1046T>G (p.Phe349Cys)
c.959T>G (p.Phe320Cys)
c.1133T>G (p.Phe378Cys)
n.359T>G
n.317T>G
n.551T>G
c.2309T>G (p.Phe770Cys)
c.2018T>G (p.Phe673Cys)
c.953T>G (p.Phe318Cys)
c.1082T>G (p.Phe361Cys)
c.2084T>G (p.Phe695Cys)
c.866T>G (p.Phe289Cys)
c.2138T>G (p.Phe713Cys)
c.1040T>G (p.Phe347Cys)
n.6325T>G
c.2396T>G (p.Phe799Cys)
c.2303T>G (p.Phe768Cys)
c.2222T>G (p.Phe741Cys)
c.2198T>G (p.Phe733Cys)
c.2105T>G (p.Phe702Cys)
c.1331T>G (p.Phe444Cys)
c.1244T>G (p.Phe415Cys)
c.1157T>G (p.Phe386Cys)
c.772-1139T>G (n.772-1139T>G)
n.964T>G
17g.46023979C>ACA399984309MAPTc.1047C>A (p.Phe349Leu)
c.960C>A (p.Phe320Leu)
c.1134C>A (p.Phe378Leu)
n.360C>A
n.318C>A
n.552C>A
c.2310C>A (p.Phe770Leu)
c.2019C>A (p.Phe673Leu)
c.954C>A (p.Phe318Leu)
c.1083C>A (p.Phe361Leu)
c.2085C>A (p.Phe695Leu)
c.867C>A (p.Phe289Leu)
c.2139C>A (p.Phe713Leu)
c.1041C>A (p.Phe347Leu)
n.6326C>A
c.2397C>A (p.Phe799Leu)
c.2304C>A (p.Phe768Leu)
c.2223C>A (p.Phe741Leu)
c.2199C>A (p.Phe733Leu)
c.2106C>A (p.Phe702Leu)
c.1332C>A (p.Phe444Leu)
c.1245C>A (p.Phe415Leu)
c.1158C>A (p.Phe386Leu)
c.772-1138C>A (n.772-1138C>A)
n.965C>A
17g.46023979C>GCA399984310MAPTc.1047C>G (p.Phe349Leu)
c.960C>G (p.Phe320Leu)
c.1134C>G (p.Phe378Leu)
n.360C>G
n.318C>G
n.552C>G
c.2310C>G (p.Phe770Leu)
c.2019C>G (p.Phe673Leu)
c.954C>G (p.Phe318Leu)
c.1083C>G (p.Phe361Leu)
c.2085C>G (p.Phe695Leu)
c.867C>G (p.Phe289Leu)
c.2139C>G (p.Phe713Leu)
c.1041C>G (p.Phe347Leu)
n.6326C>G
c.2397C>G (p.Phe799Leu)
c.2304C>G (p.Phe768Leu)
c.2223C>G (p.Phe741Leu)
c.2199C>G (p.Phe733Leu)
c.2106C>G (p.Phe702Leu)
c.1332C>G (p.Phe444Leu)
c.1245C>G (p.Phe415Leu)
c.1158C>G (p.Phe386Leu)
c.772-1138C>G (n.772-1138C>G)
n.965C>G
17g.46023979C>TCA500371397MAPTc.1047C>T (p.Phe349=)
c.960C>T (p.Phe320=)
c.1134C>T (p.Phe378=)
n.360C>T
n.318C>T
n.552C>T
c.2310C>T (p.Phe770=)
c.2019C>T (p.Phe673=)
c.954C>T (p.Phe318=)
c.1083C>T (p.Phe361=)
c.2085C>T (p.Phe695=)
c.867C>T (p.Phe289=)
c.2139C>T (p.Phe713=)
c.1041C>T (p.Phe347=)
n.6326C>T
c.2397C>T (p.Phe799=)
c.2304C>T (p.Phe768=)
c.2223C>T (p.Phe741=)
c.2199C>T (p.Phe733=)
c.2106C>T (p.Phe702=)
c.1332C>T (p.Phe444=)
c.1245C>T (p.Phe415=)
c.1158C>T (p.Phe386=)
c.772-1138C>T (n.772-1138C>T)
n.965C>T
17g.46023980C>ACA399984311MAPTc.1048C>A (p.Arg350Ser)
c.961C>A (p.Arg321Ser)
c.1135C>A (p.Arg379Ser)
n.361C>A
n.319C>A
n.553C>A
c.2311C>A (p.Arg771Ser)
c.2020C>A (p.Arg674Ser)
c.955C>A (p.Arg319Ser)
c.1084C>A (p.Arg362Ser)
c.2086C>A (p.Arg696Ser)
c.868C>A (p.Arg290Ser)
c.2140C>A (p.Arg714Ser)
c.1042C>A (p.Arg348Ser)
n.6327C>A
c.2398C>A (p.Arg800Ser)
c.2305C>A (p.Arg769Ser)
c.2224C>A (p.Arg742Ser)
c.2200C>A (p.Arg734Ser)
c.2107C>A (p.Arg703Ser)
c.1333C>A (p.Arg445Ser)
c.1246C>A (p.Arg416Ser)
c.1159C>A (p.Arg387Ser)
c.772-1137C>A (n.772-1137C>A)
n.966C>A
17g.46023980C=CA2262106903MAPTc.1048C= (p.Arg350=)
c.961C= (p.Arg321=)
c.1135C= (p.Arg379=)
n.361C=
n.319C=
n.553C=
c.2311C= (p.Arg771=)
c.2020C= (p.Arg674=)
c.955C= (p.Arg319=)
c.1084C= (p.Arg362=)
c.2086C= (p.Arg696=)
c.868C= (p.Arg290=)
c.2140C= (p.Arg714=)
c.1042C= (p.Arg348=)
n.6327C=
c.2398C= (p.Arg800=)
c.2305C= (p.Arg769=)
c.2224C= (p.Arg742=)
c.2200C= (p.Arg734=)
c.2107C= (p.Arg703=)
c.1333C= (p.Arg445=)
c.1246C= (p.Arg416=)
c.1159C= (p.Arg387=)
c.772-1137C= (n.772-1137C=)
n.966C=
17g.46023980C>GCA399984312MAPTc.1048C>G (p.Arg350Gly)
c.961C>G (p.Arg321Gly)
c.1135C>G (p.Arg379Gly)
n.361C>G
n.319C>G
n.553C>G
c.2311C>G (p.Arg771Gly)
c.2020C>G (p.Arg674Gly)
c.955C>G (p.Arg319Gly)
c.1084C>G (p.Arg362Gly)
c.2086C>G (p.Arg696Gly)
c.868C>G (p.Arg290Gly)
c.2140C>G (p.Arg714Gly)
c.1042C>G (p.Arg348Gly)
n.6327C>G
c.2398C>G (p.Arg800Gly)
c.2305C>G (p.Arg769Gly)
c.2224C>G (p.Arg742Gly)
c.2200C>G (p.Arg734Gly)
c.2107C>G (p.Arg703Gly)
c.1333C>G (p.Arg445Gly)
c.1246C>G (p.Arg416Gly)
c.1159C>G (p.Arg387Gly)
c.772-1137C>G (n.772-1137C>G)
n.966C>G
17g.46023980C>TCA8618247MAPTc.1048C>T (p.Arg350Cys)
c.961C>T (p.Arg321Cys)
c.1135C>T (p.Arg379Cys)
n.361C>T
n.319C>T
n.553C>T
c.2311C>T (p.Arg771Cys)
c.2020C>T (p.Arg674Cys)
c.955C>T (p.Arg319Cys)
c.1084C>T (p.Arg362Cys)
c.2086C>T (p.Arg696Cys)
c.868C>T (p.Arg290Cys)
c.2140C>T (p.Arg714Cys)
c.1042C>T (p.Arg348Cys)
n.6327C>T
c.2398C>T (p.Arg800Cys)
c.2305C>T (p.Arg769Cys)
c.2224C>T (p.Arg742Cys)
c.2200C>T (p.Arg734Cys)
c.2107C>T (p.Arg703Cys)
c.1333C>T (p.Arg445Cys)
c.1246C>T (p.Arg416Cys)
c.1159C>T (p.Arg387Cys)
c.772-1137C>T (n.772-1137C>T)
n.966C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.46023981G>ACA399984313MAPTc.1049G>A (p.Arg350His)
c.962G>A (p.Arg321His)
c.1136G>A (p.Arg379His)
n.362G>A
n.320G>A
n.554G>A
c.2312G>A (p.Arg771His)
c.2021G>A (p.Arg674His)
c.956G>A (p.Arg319His)
c.1085G>A (p.Arg362His)
c.2087G>A (p.Arg696His)
c.869G>A (p.Arg290His)
c.2141G>A (p.Arg714His)
c.1043G>A (p.Arg348His)
n.6328G>A
c.2399G>A (p.Arg800His)
c.2306G>A (p.Arg769His)
c.2225G>A (p.Arg742His)
c.2201G>A (p.Arg734His)
c.2108G>A (p.Arg703His)
c.1334G>A (p.Arg445His)
c.1247G>A (p.Arg416His)
c.1160G>A (p.Arg387His)
c.772-1136G>A (n.772-1136G>A)
n.967G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
17g.46023981G>CCA399984315MAPTc.1049G>C (p.Arg350Pro)
c.962G>C (p.Arg321Pro)
c.1136G>C (p.Arg379Pro)
n.362G>C
n.320G>C
n.554G>C
c.2312G>C (p.Arg771Pro)
c.2021G>C (p.Arg674Pro)
c.956G>C (p.Arg319Pro)
c.1085G>C (p.Arg362Pro)
c.2087G>C (p.Arg696Pro)
c.869G>C (p.Arg290Pro)
c.2141G>C (p.Arg714Pro)
c.1043G>C (p.Arg348Pro)
n.6328G>C
c.2399G>C (p.Arg800Pro)
c.2306G>C (p.Arg769Pro)
c.2225G>C (p.Arg742Pro)
c.2201G>C (p.Arg734Pro)
c.2108G>C (p.Arg703Pro)
c.1334G>C (p.Arg445Pro)
c.1247G>C (p.Arg416Pro)
c.1160G>C (p.Arg387Pro)
c.772-1136G>C (n.772-1136G>C)
n.967G>C
17g.46023981G=CA2262106904MAPTc.1049G= (p.Arg350=)
c.962G= (p.Arg321=)
c.1136G= (p.Arg379=)
n.362G=
n.320G=
n.554G=
c.2312G= (p.Arg771=)
c.2021G= (p.Arg674=)
c.956G= (p.Arg319=)
c.1085G= (p.Arg362=)
c.2087G= (p.Arg696=)
c.869G= (p.Arg290=)
c.2141G= (p.Arg714=)
c.1043G= (p.Arg348=)
n.6328G=
c.2399G= (p.Arg800=)
c.2306G= (p.Arg769=)
c.2225G= (p.Arg742=)
c.2201G= (p.Arg734=)
c.2108G= (p.Arg703=)
c.1334G= (p.Arg445=)
c.1247G= (p.Arg416=)
c.1160G= (p.Arg387=)
c.772-1136G= (n.772-1136G=)
n.967G=
17g.46023981G>TCA399984314MAPTc.1049G>T (p.Arg350Leu)
c.962G>T (p.Arg321Leu)
c.1136G>T (p.Arg379Leu)
n.362G>T
n.320G>T
n.554G>T
c.2312G>T (p.Arg771Leu)
c.2021G>T (p.Arg674Leu)
c.956G>T (p.Arg319Leu)
c.1085G>T (p.Arg362Leu)
c.2087G>T (p.Arg696Leu)
c.869G>T (p.Arg290Leu)
c.2141G>T (p.Arg714Leu)
c.1043G>T (p.Arg348Leu)
n.6328G>T
c.2399G>T (p.Arg800Leu)
c.2306G>T (p.Arg769Leu)
c.2225G>T (p.Arg742Leu)
c.2201G>T (p.Arg734Leu)
c.2108G>T (p.Arg703Leu)
c.1334G>T (p.Arg445Leu)
c.1247G>T (p.Arg416Leu)
c.1160G>T (p.Arg387Leu)
c.772-1136G>T (n.772-1136G>T)
n.967G>T
17g.46023982C>ACA500371399MAPTc.1050C>A (p.Arg350=)
c.963C>A (p.Arg321=)
c.1137C>A (p.Arg379=)
n.363C>A
n.321C>A
n.555C>A
c.2313C>A (p.Arg771=)
c.2022C>A (p.Arg674=)
c.957C>A (p.Arg319=)
c.1086C>A (p.Arg362=)
c.2088C>A (p.Arg696=)
c.870C>A (p.Arg290=)
c.2142C>A (p.Arg714=)
c.1044C>A (p.Arg348=)
n.6329C>A
c.2400C>A (p.Arg800=)
c.2307C>A (p.Arg769=)
c.2226C>A (p.Arg742=)
c.2202C>A (p.Arg734=)
c.2109C>A (p.Arg703=)
c.1335C>A (p.Arg445=)
c.1248C>A (p.Arg416=)
c.1161C>A (p.Arg387=)
c.772-1135C>A (n.772-1135C>A)
n.968C>A
 ClinVar dbSNP gnomAD v4
17g.46023982C=CA2262106905MAPTc.1050C= (p.Arg350=)
c.963C= (p.Arg321=)
c.1137C= (p.Arg379=)
n.363C=
n.321C=
n.555C=
c.2313C= (p.Arg771=)
c.2022C= (p.Arg674=)
c.957C= (p.Arg319=)
c.1086C= (p.Arg362=)
c.2088C= (p.Arg696=)
c.870C= (p.Arg290=)
c.2142C= (p.Arg714=)
c.1044C= (p.Arg348=)
n.6329C=
c.2400C= (p.Arg800=)
c.2307C= (p.Arg769=)
c.2226C= (p.Arg742=)
c.2202C= (p.Arg734=)
c.2109C= (p.Arg703=)
c.1335C= (p.Arg445=)
c.1248C= (p.Arg416=)
c.1161C= (p.Arg387=)
c.772-1135C= (n.772-1135C=)
n.968C=
17g.46023982C>GCA500371398MAPTc.1050C>G (p.Arg350=)
c.963C>G (p.Arg321=)
c.1137C>G (p.Arg379=)
n.363C>G
n.321C>G
n.555C>G
c.2313C>G (p.Arg771=)
c.2022C>G (p.Arg674=)
c.957C>G (p.Arg319=)
c.1086C>G (p.Arg362=)
c.2088C>G (p.Arg696=)
c.870C>G (p.Arg290=)
c.2142C>G (p.Arg714=)
c.1044C>G (p.Arg348=)
n.6329C>G
c.2400C>G (p.Arg800=)
c.2307C>G (p.Arg769=)
c.2226C>G (p.Arg742=)
c.2202C>G (p.Arg734=)
c.2109C>G (p.Arg703=)
c.1335C>G (p.Arg445=)
c.1248C>G (p.Arg416=)
c.1161C>G (p.Arg387=)
c.772-1135C>G (n.772-1135C>G)
n.968C>G
17g.46023982C>TCA8618248MAPTc.1050C>T (p.Arg350=)
c.963C>T (p.Arg321=)
c.1137C>T (p.Arg379=)
n.363C>T
n.321C>T
n.555C>T
c.2313C>T (p.Arg771=)
c.2022C>T (p.Arg674=)
c.957C>T (p.Arg319=)
c.1086C>T (p.Arg362=)
c.2088C>T (p.Arg696=)
c.870C>T (p.Arg290=)
c.2142C>T (p.Arg714=)
c.1044C>T (p.Arg348=)
n.6329C>T
c.2400C>T (p.Arg800=)
c.2307C>T (p.Arg769=)
c.2226C>T (p.Arg742=)
c.2202C>T (p.Arg734=)
c.2109C>T (p.Arg703=)
c.1335C>T (p.Arg445=)
c.1248C>T (p.Arg416=)
c.1161C>T (p.Arg387=)
c.772-1135C>T (n.772-1135C>T)
n.968C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46023983G>ACA399984316MAPTc.1051G>A (p.Glu351Lys)
c.964G>A (p.Glu322Lys)
c.1138G>A (p.Glu380Lys)
n.364G>A
n.322G>A
n.556G>A
c.2314G>A (p.Glu772Lys)
c.2023G>A (p.Glu675Lys)
c.958G>A (p.Glu320Lys)
c.1087G>A (p.Glu363Lys)
c.2089G>A (p.Glu697Lys)
c.871G>A (p.Glu291Lys)
c.2143G>A (p.Glu715Lys)
c.1045G>A (p.Glu349Lys)
n.6330G>A
c.2401G>A (p.Glu801Lys)
c.2308G>A (p.Glu770Lys)
c.2227G>A (p.Glu743Lys)
c.2203G>A (p.Glu735Lys)
c.2110G>A (p.Glu704Lys)
c.1336G>A (p.Glu446Lys)
c.1249G>A (p.Glu417Lys)
c.1162G>A (p.Glu388Lys)
c.772-1134G>A (n.772-1134G>A)
n.969G>A
 gnomAD v4
17g.46023983G>CCA399984317MAPTc.1051G>C (p.Glu351Gln)
c.964G>C (p.Glu322Gln)
c.1138G>C (p.Glu380Gln)
n.364G>C
n.322G>C
n.556G>C
c.2314G>C (p.Glu772Gln)
c.2023G>C (p.Glu675Gln)
c.958G>C (p.Glu320Gln)
c.1087G>C (p.Glu363Gln)
c.2089G>C (p.Glu697Gln)
c.871G>C (p.Glu291Gln)
c.2143G>C (p.Glu715Gln)
c.1045G>C (p.Glu349Gln)
n.6330G>C
c.2401G>C (p.Glu801Gln)
c.2308G>C (p.Glu770Gln)
c.2227G>C (p.Glu743Gln)
c.2203G>C (p.Glu735Gln)
c.2110G>C (p.Glu704Gln)
c.1336G>C (p.Glu446Gln)
c.1249G>C (p.Glu417Gln)
c.1162G>C (p.Glu388Gln)
c.772-1134G>C (n.772-1134G>C)
n.969G>C
17g.46023983G>TCA399984318MAPTc.1051G>T (p.Glu351Ter)
c.964G>T (p.Glu322Ter)
c.1138G>T (p.Glu380Ter)
n.364G>T
n.322G>T
n.556G>T
c.2314G>T (p.Glu772Ter)
c.2023G>T (p.Glu675Ter)
c.958G>T (p.Glu320Ter)
c.1087G>T (p.Glu363Ter)
c.2089G>T (p.Glu697Ter)
c.871G>T (p.Glu291Ter)
c.2143G>T (p.Glu715Ter)
c.1045G>T (p.Glu349Ter)
n.6330G>T
c.2401G>T (p.Glu801Ter)
c.2308G>T (p.Glu770Ter)
c.2227G>T (p.Glu743Ter)
c.2203G>T (p.Glu735Ter)
c.2110G>T (p.Glu704Ter)
c.1336G>T (p.Glu446Ter)
c.1249G>T (p.Glu417Ter)
c.1162G>T (p.Glu388Ter)
c.772-1134G>T (n.772-1134G>T)
n.969G>T
17g.46023984A>CCA399984319MAPTc.1052A>C (p.Glu351Ala)
c.965A>C (p.Glu322Ala)
c.1139A>C (p.Glu380Ala)
n.365A>C
n.323A>C
n.557A>C
c.2315A>C (p.Glu772Ala)
c.2024A>C (p.Glu675Ala)
c.959A>C (p.Glu320Ala)
c.1088A>C (p.Glu363Ala)
c.2090A>C (p.Glu697Ala)
c.872A>C (p.Glu291Ala)
c.2144A>C (p.Glu715Ala)
c.1046A>C (p.Glu349Ala)
n.6331A>C
c.2402A>C (p.Glu801Ala)
c.2309A>C (p.Glu770Ala)
c.2228A>C (p.Glu743Ala)
c.2204A>C (p.Glu735Ala)
c.2111A>C (p.Glu704Ala)
c.1337A>C (p.Glu446Ala)
c.1250A>C (p.Glu417Ala)
c.1163A>C (p.Glu388Ala)
c.772-1133A>C (n.772-1133A>C)
n.970A>C
17g.46023984A>GCA399984321MAPTc.1052A>G (p.Glu351Gly)
c.965A>G (p.Glu322Gly)
c.1139A>G (p.Glu380Gly)
n.365A>G
n.323A>G
n.557A>G
c.2315A>G (p.Glu772Gly)
c.2024A>G (p.Glu675Gly)
c.959A>G (p.Glu320Gly)
c.1088A>G (p.Glu363Gly)
c.2090A>G (p.Glu697Gly)
c.872A>G (p.Glu291Gly)
c.2144A>G (p.Glu715Gly)
c.1046A>G (p.Glu349Gly)
n.6331A>G
c.2402A>G (p.Glu801Gly)
c.2309A>G (p.Glu770Gly)
c.2228A>G (p.Glu743Gly)
c.2204A>G (p.Glu735Gly)
c.2111A>G (p.Glu704Gly)
c.1337A>G (p.Glu446Gly)
c.1250A>G (p.Glu417Gly)
c.1163A>G (p.Glu388Gly)
c.772-1133A>G (n.772-1133A>G)
n.970A>G
17g.46023984A>TCA399984320MAPTc.1052A>T (p.Glu351Val)
c.965A>T (p.Glu322Val)
c.1139A>T (p.Glu380Val)
n.365A>T
n.323A>T
n.557A>T
c.2315A>T (p.Glu772Val)
c.2024A>T (p.Glu675Val)
c.959A>T (p.Glu320Val)
c.1088A>T (p.Glu363Val)
c.2090A>T (p.Glu697Val)
c.872A>T (p.Glu291Val)
c.2144A>T (p.Glu715Val)
c.1046A>T (p.Glu349Val)
n.6331A>T
c.2402A>T (p.Glu801Val)
c.2309A>T (p.Glu770Val)
c.2228A>T (p.Glu743Val)
c.2204A>T (p.Glu735Val)
c.2111A>T (p.Glu704Val)
c.1337A>T (p.Glu446Val)
c.1250A>T (p.Glu417Val)
c.1163A>T (p.Glu388Val)
c.772-1133A>T (n.772-1133A>T)
n.970A>T
17g.46023985G>ACA500371400MAPTc.1053G>A (p.Glu351=)
c.966G>A (p.Glu322=)
c.1140G>A (p.Glu380=)
n.366G>A
n.324G>A
n.558G>A
c.2316G>A (p.Glu772=)
c.2025G>A (p.Glu675=)
c.960G>A (p.Glu320=)
c.1089G>A (p.Glu363=)
c.2091G>A (p.Glu697=)
c.873G>A (p.Glu291=)
c.2145G>A (p.Glu715=)
c.1047G>A (p.Glu349=)
n.6332G>A
c.2403G>A (p.Glu801=)
c.2310G>A (p.Glu770=)
c.2229G>A (p.Glu743=)
c.2205G>A (p.Glu735=)
c.2112G>A (p.Glu704=)
c.1338G>A (p.Glu446=)
c.1251G>A (p.Glu417=)
c.1164G>A (p.Glu388=)
c.772-1132G>A (n.772-1132G>A)
n.971G>A
17g.46023985G>CCA399984322MAPTc.1053G>C (p.Glu351Asp)
c.966G>C (p.Glu322Asp)
c.1140G>C (p.Glu380Asp)
n.366G>C
n.324G>C
n.558G>C
c.2316G>C (p.Glu772Asp)
c.2025G>C (p.Glu675Asp)
c.960G>C (p.Glu320Asp)
c.1089G>C (p.Glu363Asp)
c.2091G>C (p.Glu697Asp)
c.873G>C (p.Glu291Asp)
c.2145G>C (p.Glu715Asp)
c.1047G>C (p.Glu349Asp)
n.6332G>C
c.2403G>C (p.Glu801Asp)
c.2310G>C (p.Glu770Asp)
c.2229G>C (p.Glu743Asp)
c.2205G>C (p.Glu735Asp)
c.2112G>C (p.Glu704Asp)
c.1338G>C (p.Glu446Asp)
c.1251G>C (p.Glu417Asp)
c.1164G>C (p.Glu388Asp)
c.772-1132G>C (n.772-1132G>C)
n.971G>C
17g.46023985G>TCA399984323MAPTc.1053G>T (p.Glu351Asp)
c.966G>T (p.Glu322Asp)
c.1140G>T (p.Glu380Asp)
n.366G>T
n.324G>T
n.558G>T
c.2316G>T (p.Glu772Asp)
c.2025G>T (p.Glu675Asp)
c.960G>T (p.Glu320Asp)
c.1089G>T (p.Glu363Asp)
c.2091G>T (p.Glu697Asp)
c.873G>T (p.Glu291Asp)
c.2145G>T (p.Glu715Asp)
c.1047G>T (p.Glu349Asp)
n.6332G>T
c.2403G>T (p.Glu801Asp)
c.2310G>T (p.Glu770Asp)
c.2229G>T (p.Glu743Asp)
c.2205G>T (p.Glu735Asp)
c.2112G>T (p.Glu704Asp)
c.1338G>T (p.Glu446Asp)
c.1251G>T (p.Glu417Asp)
c.1164G>T (p.Glu388Asp)
c.772-1132G>T (n.772-1132G>T)
n.971G>T
17g.46023986A>CCA399984324MAPTc.1054A>C (p.Asn352His)
c.967A>C (p.Asn323His)
c.1141A>C (p.Asn381His)
n.367A>C
n.325A>C
n.559A>C
c.2317A>C (p.Asn773His)
c.2026A>C (p.Asn676His)
c.961A>C (p.Asn321His)
c.1090A>C (p.Asn364His)
c.2092A>C (p.Asn698His)
c.874A>C (p.Asn292His)
c.2146A>C (p.Asn716His)
c.1048A>C (p.Asn350His)
n.6333A>C
c.2404A>C (p.Asn802His)
c.2311A>C (p.Asn771His)
c.2230A>C (p.Asn744His)
c.2206A>C (p.Asn736His)
c.2113A>C (p.Asn705His)
c.1339A>C (p.Asn447His)
c.1252A>C (p.Asn418His)
c.1165A>C (p.Asn389His)
c.772-1131A>C (n.772-1131A>C)
n.972A>C
17g.46023986A>GCA399984325MAPTc.1054A>G (p.Asn352Asp)
c.967A>G (p.Asn323Asp)
c.1141A>G (p.Asn381Asp)
n.367A>G
n.325A>G
n.559A>G
c.2317A>G (p.Asn773Asp)
c.2026A>G (p.Asn676Asp)
c.961A>G (p.Asn321Asp)
c.1090A>G (p.Asn364Asp)
c.2092A>G (p.Asn698Asp)
c.874A>G (p.Asn292Asp)
c.2146A>G (p.Asn716Asp)
c.1048A>G (p.Asn350Asp)
n.6333A>G
c.2404A>G (p.Asn802Asp)
c.2311A>G (p.Asn771Asp)
c.2230A>G (p.Asn744Asp)
c.2206A>G (p.Asn736Asp)
c.2113A>G (p.Asn705Asp)
c.1339A>G (p.Asn447Asp)
c.1252A>G (p.Asn418Asp)
c.1165A>G (p.Asn389Asp)
c.772-1131A>G (n.772-1131A>G)
n.972A>G
17g.46023986A>TCA399984326MAPTc.1054A>T (p.Asn352Tyr)
c.967A>T (p.Asn323Tyr)
c.1141A>T (p.Asn381Tyr)
n.367A>T
n.325A>T
n.559A>T
c.2317A>T (p.Asn773Tyr)
c.2026A>T (p.Asn676Tyr)
c.961A>T (p.Asn321Tyr)
c.1090A>T (p.Asn364Tyr)
c.2092A>T (p.Asn698Tyr)
c.874A>T (p.Asn292Tyr)
c.2146A>T (p.Asn716Tyr)
c.1048A>T (p.Asn350Tyr)
n.6333A>T
c.2404A>T (p.Asn802Tyr)
c.2311A>T (p.Asn771Tyr)
c.2230A>T (p.Asn744Tyr)
c.2206A>T (p.Asn736Tyr)
c.2113A>T (p.Asn705Tyr)
c.1339A>T (p.Asn447Tyr)
c.1252A>T (p.Asn418Tyr)
c.1165A>T (p.Asn389Tyr)
c.772-1131A>T (n.772-1131A>T)
n.972A>T
17g.46023987A>CCA399984327MAPTc.1055A>C (p.Asn352Thr)
c.968A>C (p.Asn323Thr)
c.1142A>C (p.Asn381Thr)
n.368A>C
n.326A>C
n.560A>C
c.2318A>C (p.Asn773Thr)
c.2027A>C (p.Asn676Thr)
c.962A>C (p.Asn321Thr)
c.1091A>C (p.Asn364Thr)
c.2093A>C (p.Asn698Thr)
c.875A>C (p.Asn292Thr)
c.2147A>C (p.Asn716Thr)
c.1049A>C (p.Asn350Thr)
n.6334A>C
c.2405A>C (p.Asn802Thr)
c.2312A>C (p.Asn771Thr)
c.2231A>C (p.Asn744Thr)
c.2207A>C (p.Asn736Thr)
c.2114A>C (p.Asn705Thr)
c.1340A>C (p.Asn447Thr)
c.1253A>C (p.Asn418Thr)
c.1166A>C (p.Asn389Thr)
c.772-1130A>C (n.772-1130A>C)
n.973A>C
17g.46023987A>GCA399984328MAPTc.1055A>G (p.Asn352Ser)
c.968A>G (p.Asn323Ser)
c.1142A>G (p.Asn381Ser)
n.368A>G
n.326A>G
n.560A>G
c.2318A>G (p.Asn773Ser)
c.2027A>G (p.Asn676Ser)
c.962A>G (p.Asn321Ser)
c.1091A>G (p.Asn364Ser)
c.2093A>G (p.Asn698Ser)
c.875A>G (p.Asn292Ser)
c.2147A>G (p.Asn716Ser)
c.1049A>G (p.Asn350Ser)
n.6334A>G
c.2405A>G (p.Asn802Ser)
c.2312A>G (p.Asn771Ser)
c.2231A>G (p.Asn744Ser)
c.2207A>G (p.Asn736Ser)
c.2114A>G (p.Asn705Ser)
c.1340A>G (p.Asn447Ser)
c.1253A>G (p.Asn418Ser)
c.1166A>G (p.Asn389Ser)
c.772-1130A>G (n.772-1130A>G)
n.973A>G
17g.46023987A>TCA399984329MAPTc.1055A>T (p.Asn352Ile)
c.968A>T (p.Asn323Ile)
c.1142A>T (p.Asn381Ile)
n.368A>T
n.326A>T
n.560A>T
c.2318A>T (p.Asn773Ile)
c.2027A>T (p.Asn676Ile)
c.962A>T (p.Asn321Ile)
c.1091A>T (p.Asn364Ile)
c.2093A>T (p.Asn698Ile)
c.875A>T (p.Asn292Ile)
c.2147A>T (p.Asn716Ile)
c.1049A>T (p.Asn350Ile)
n.6334A>T
c.2405A>T (p.Asn802Ile)
c.2312A>T (p.Asn771Ile)
c.2231A>T (p.Asn744Ile)
c.2207A>T (p.Asn736Ile)
c.2114A>T (p.Asn705Ile)
c.1340A>T (p.Asn447Ile)
c.1253A>T (p.Asn418Ile)
c.1166A>T (p.Asn389Ile)
c.772-1130A>T (n.772-1130A>T)
n.973A>T
17g.46023988C>ACA399984330MAPTc.1056C>A (p.Asn352Lys)
c.969C>A (p.Asn323Lys)
c.1143C>A (p.Asn381Lys)
n.369C>A
n.327C>A
n.561C>A
c.2319C>A (p.Asn773Lys)
c.2028C>A (p.Asn676Lys)
c.963C>A (p.Asn321Lys)
c.1092C>A (p.Asn364Lys)
c.2094C>A (p.Asn698Lys)
c.876C>A (p.Asn292Lys)
c.2148C>A (p.Asn716Lys)
c.1050C>A (p.Asn350Lys)
n.6335C>A
c.2406C>A (p.Asn802Lys)
c.2313C>A (p.Asn771Lys)
c.2232C>A (p.Asn744Lys)
c.2208C>A (p.Asn736Lys)
c.2115C>A (p.Asn705Lys)
c.1341C>A (p.Asn447Lys)
c.1254C>A (p.Asn418Lys)
c.1167C>A (p.Asn389Lys)
c.772-1129C>A (n.772-1129C>A)
n.974C>A
17g.46023988C=CA2262106906MAPTc.1056C= (p.Asn352=)
c.969C= (p.Asn323=)
c.1143C= (p.Asn381=)
n.369C=
n.327C=
n.561C=
c.2319C= (p.Asn773=)
c.2028C= (p.Asn676=)
c.963C= (p.Asn321=)
c.1092C= (p.Asn364=)
c.2094C= (p.Asn698=)
c.876C= (p.Asn292=)
c.2148C= (p.Asn716=)
c.1050C= (p.Asn350=)
n.6335C=
c.2406C= (p.Asn802=)
c.2313C= (p.Asn771=)
c.2232C= (p.Asn744=)
c.2208C= (p.Asn736=)
c.2115C= (p.Asn705=)
c.1341C= (p.Asn447=)
c.1254C= (p.Asn418=)
c.1167C= (p.Asn389=)
c.772-1129C= (n.772-1129C=)
n.974C=
17g.46023988C>GCA399984331MAPTc.1056C>G (p.Asn352Lys)
c.969C>G (p.Asn323Lys)
c.1143C>G (p.Asn381Lys)
n.369C>G
n.327C>G
n.561C>G
c.2319C>G (p.Asn773Lys)
c.2028C>G (p.Asn676Lys)
c.963C>G (p.Asn321Lys)
c.1092C>G (p.Asn364Lys)
c.2094C>G (p.Asn698Lys)
c.876C>G (p.Asn292Lys)
c.2148C>G (p.Asn716Lys)
c.1050C>G (p.Asn350Lys)
n.6335C>G
c.2406C>G (p.Asn802Lys)
c.2313C>G (p.Asn771Lys)
c.2232C>G (p.Asn744Lys)
c.2208C>G (p.Asn736Lys)
c.2115C>G (p.Asn705Lys)
c.1341C>G (p.Asn447Lys)
c.1254C>G (p.Asn418Lys)
c.1167C>G (p.Asn389Lys)
c.772-1129C>G (n.772-1129C>G)
n.974C>G
17g.46023988C>TCA8618249MAPTc.1056C>T (p.Asn352=)
c.969C>T (p.Asn323=)
c.1143C>T (p.Asn381=)
n.369C>T
n.327C>T
n.561C>T
c.2319C>T (p.Asn773=)
c.2028C>T (p.Asn676=)
c.963C>T (p.Asn321=)
c.1092C>T (p.Asn364=)
c.2094C>T (p.Asn698=)
c.876C>T (p.Asn292=)
c.2148C>T (p.Asn716=)
c.1050C>T (p.Asn350=)
n.6335C>T
c.2406C>T (p.Asn802=)
c.2313C>T (p.Asn771=)
c.2232C>T (p.Asn744=)
c.2208C>T (p.Asn736=)
c.2115C>T (p.Asn705=)
c.1341C>T (p.Asn447=)
c.1254C>T (p.Asn418=)
c.1167C>T (p.Asn389=)
c.772-1129C>T (n.772-1129C>T)
n.974C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46023989G>ACA399984334MAPTc.1057G>A (p.Ala353Thr)
c.970G>A (p.Ala324Thr)
c.1144G>A (p.Ala382Thr)
n.370G>A
n.328G>A
n.562G>A
c.2320G>A (p.Ala774Thr)
c.2029G>A (p.Ala677Thr)
c.964G>A (p.Ala322Thr)
c.1093G>A (p.Ala365Thr)
c.2095G>A (p.Ala699Thr)
c.877G>A (p.Ala293Thr)
c.2149G>A (p.Ala717Thr)
c.1051G>A (p.Ala351Thr)
n.6336G>A
c.2407G>A (p.Ala803Thr)
c.2314G>A (p.Ala772Thr)
c.2233G>A (p.Ala745Thr)
c.2209G>A (p.Ala737Thr)
c.2116G>A (p.Ala706Thr)
c.1342G>A (p.Ala448Thr)
c.1255G>A (p.Ala419Thr)
c.1168G>A (p.Ala390Thr)
c.772-1128G>A (n.772-1128G>A)
n.975G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46023989G>CCA399984332MAPTc.1057G>C (p.Ala353Pro)
c.970G>C (p.Ala324Pro)
c.1144G>C (p.Ala382Pro)
n.370G>C
n.328G>C
n.562G>C
c.2320G>C (p.Ala774Pro)
c.2029G>C (p.Ala677Pro)
c.964G>C (p.Ala322Pro)
c.1093G>C (p.Ala365Pro)
c.2095G>C (p.Ala699Pro)
c.877G>C (p.Ala293Pro)
c.2149G>C (p.Ala717Pro)
c.1051G>C (p.Ala351Pro)
n.6336G>C
c.2407G>C (p.Ala803Pro)
c.2314G>C (p.Ala772Pro)
c.2233G>C (p.Ala745Pro)
c.2209G>C (p.Ala737Pro)
c.2116G>C (p.Ala706Pro)
c.1342G>C (p.Ala448Pro)
c.1255G>C (p.Ala419Pro)
c.1168G>C (p.Ala390Pro)
c.772-1128G>C (n.772-1128G>C)
n.975G>C
17g.46023989G=CA2262106907MAPTc.1057G= (p.Ala353=)
c.970G= (p.Ala324=)
c.1144G= (p.Ala382=)
n.370G=
n.328G=
n.562G=
c.2320G= (p.Ala774=)
c.2029G= (p.Ala677=)
c.964G= (p.Ala322=)
c.1093G= (p.Ala365=)
c.2095G= (p.Ala699=)
c.877G= (p.Ala293=)
c.2149G= (p.Ala717=)
c.1051G= (p.Ala351=)
n.6336G=
c.2407G= (p.Ala803=)
c.2314G= (p.Ala772=)
c.2233G= (p.Ala745=)
c.2209G= (p.Ala737=)
c.2116G= (p.Ala706=)
c.1342G= (p.Ala448=)
c.1255G= (p.Ala419=)
c.1168G= (p.Ala390=)
c.772-1128G= (n.772-1128G=)
n.975G=
17g.46023989G>TCA399984333MAPTc.1057G>T (p.Ala353Ser)
c.970G>T (p.Ala324Ser)
c.1144G>T (p.Ala382Ser)
n.370G>T
n.328G>T
n.562G>T
c.2320G>T (p.Ala774Ser)
c.2029G>T (p.Ala677Ser)
c.964G>T (p.Ala322Ser)
c.1093G>T (p.Ala365Ser)
c.2095G>T (p.Ala699Ser)
c.877G>T (p.Ala293Ser)
c.2149G>T (p.Ala717Ser)
c.1051G>T (p.Ala351Ser)
n.6336G>T
c.2407G>T (p.Ala803Ser)
c.2314G>T (p.Ala772Ser)
c.2233G>T (p.Ala745Ser)
c.2209G>T (p.Ala737Ser)
c.2116G>T (p.Ala706Ser)
c.1342G>T (p.Ala448Ser)
c.1255G>T (p.Ala419Ser)
c.1168G>T (p.Ala390Ser)
c.772-1128G>T (n.772-1128G>T)
n.975G>T
17g.46023990C>ACA399984335MAPTc.1058C>A (p.Ala353Asp)
c.971C>A (p.Ala324Asp)
c.1145C>A (p.Ala382Asp)
n.371C>A
n.329C>A
n.563C>A
c.2321C>A (p.Ala774Asp)
c.2030C>A (p.Ala677Asp)
c.965C>A (p.Ala322Asp)
c.1094C>A (p.Ala365Asp)
c.2096C>A (p.Ala699Asp)
c.878C>A (p.Ala293Asp)
c.2150C>A (p.Ala717Asp)
c.1052C>A (p.Ala351Asp)
n.6337C>A
c.2408C>A (p.Ala803Asp)
c.2315C>A (p.Ala772Asp)
c.2234C>A (p.Ala745Asp)
c.2210C>A (p.Ala737Asp)
c.2117C>A (p.Ala706Asp)
c.1343C>A (p.Ala448Asp)
c.1256C>A (p.Ala419Asp)
c.1169C>A (p.Ala390Asp)
c.772-1127C>A (n.772-1127C>A)
n.976C>A
17g.46023990C=CA2262106908MAPTc.1058C= (p.Ala353=)
c.971C= (p.Ala324=)
c.1145C= (p.Ala382=)
n.371C=
n.329C=
n.563C=
c.2321C= (p.Ala774=)
c.2030C= (p.Ala677=)
c.965C= (p.Ala322=)
c.1094C= (p.Ala365=)
c.2096C= (p.Ala699=)
c.878C= (p.Ala293=)
c.2150C= (p.Ala717=)
c.1052C= (p.Ala351=)
n.6337C=
c.2408C= (p.Ala803=)
c.2315C= (p.Ala772=)
c.2234C= (p.Ala745=)
c.2210C= (p.Ala737=)
c.2117C= (p.Ala706=)
c.1343C= (p.Ala448=)
c.1256C= (p.Ala419=)
c.1169C= (p.Ala390=)
c.772-1127C= (n.772-1127C=)
n.976C=
17g.46023990C>GCA399984336MAPTc.1058C>G (p.Ala353Gly)
c.971C>G (p.Ala324Gly)
c.1145C>G (p.Ala382Gly)
n.371C>G
n.329C>G
n.563C>G
c.2321C>G (p.Ala774Gly)
c.2030C>G (p.Ala677Gly)
c.965C>G (p.Ala322Gly)
c.1094C>G (p.Ala365Gly)
c.2096C>G (p.Ala699Gly)
c.878C>G (p.Ala293Gly)
c.2150C>G (p.Ala717Gly)
c.1052C>G (p.Ala351Gly)
n.6337C>G
c.2408C>G (p.Ala803Gly)
c.2315C>G (p.Ala772Gly)
c.2234C>G (p.Ala745Gly)
c.2210C>G (p.Ala737Gly)
c.2117C>G (p.Ala706Gly)
c.1343C>G (p.Ala448Gly)
c.1256C>G (p.Ala419Gly)
c.1169C>G (p.Ala390Gly)
c.772-1127C>G (n.772-1127C>G)
n.976C>G
17g.46023990C>TCA399984337MAPTc.1058C>T (p.Ala353Val)
c.971C>T (p.Ala324Val)
c.1145C>T (p.Ala382Val)
n.371C>T
n.329C>T
n.563C>T
c.2321C>T (p.Ala774Val)
c.2030C>T (p.Ala677Val)
c.965C>T (p.Ala322Val)
c.1094C>T (p.Ala365Val)
c.2096C>T (p.Ala699Val)
c.878C>T (p.Ala293Val)
c.2150C>T (p.Ala717Val)
c.1052C>T (p.Ala351Val)
n.6337C>T
c.2408C>T (p.Ala803Val)
c.2315C>T (p.Ala772Val)
c.2234C>T (p.Ala745Val)
c.2210C>T (p.Ala737Val)
c.2117C>T (p.Ala706Val)
c.1343C>T (p.Ala448Val)
c.1256C>T (p.Ala419Val)
c.1169C>T (p.Ala390Val)
c.772-1127C>T (n.772-1127C>T)
n.976C>T
 dbSNP gnomAD v2
17g.46023991C>ACA500371402MAPTc.1059C>A (p.Ala353=)
c.972C>A (p.Ala324=)
c.1146C>A (p.Ala382=)
n.372C>A
n.330C>A
n.564C>A
c.2322C>A (p.Ala774=)
c.2031C>A (p.Ala677=)
c.966C>A (p.Ala322=)
c.1095C>A (p.Ala365=)
c.2097C>A (p.Ala699=)
c.879C>A (p.Ala293=)
c.2151C>A (p.Ala717=)
c.1053C>A (p.Ala351=)
n.6338C>A
c.2409C>A (p.Ala803=)
c.2316C>A (p.Ala772=)
c.2235C>A (p.Ala745=)
c.2211C>A (p.Ala737=)
c.2118C>A (p.Ala706=)
c.1344C>A (p.Ala448=)
c.1257C>A (p.Ala419=)
c.1170C>A (p.Ala390=)
c.772-1126C>A (n.772-1126C>A)
n.977C>A
17g.46023991C=CA2262106909MAPTc.1059C= (p.Ala353=)
c.972C= (p.Ala324=)
c.1146C= (p.Ala382=)
n.372C=
n.330C=
n.564C=
c.2322C= (p.Ala774=)
c.2031C= (p.Ala677=)
c.966C= (p.Ala322=)
c.1095C= (p.Ala365=)
c.2097C= (p.Ala699=)
c.879C= (p.Ala293=)
c.2151C= (p.Ala717=)
c.1053C= (p.Ala351=)
n.6338C=
c.2409C= (p.Ala803=)
c.2316C= (p.Ala772=)
c.2235C= (p.Ala745=)
c.2211C= (p.Ala737=)
c.2118C= (p.Ala706=)
c.1344C= (p.Ala448=)
c.1257C= (p.Ala419=)
c.1170C= (p.Ala390=)
c.772-1126C= (n.772-1126C=)
n.977C=
17g.46023991C>GCA500371404MAPTc.1059C>G (p.Ala353=)
c.972C>G (p.Ala324=)
c.1146C>G (p.Ala382=)
n.372C>G
n.330C>G
n.564C>G
c.2322C>G (p.Ala774=)
c.2031C>G (p.Ala677=)
c.966C>G (p.Ala322=)
c.1095C>G (p.Ala365=)
c.2097C>G (p.Ala699=)
c.879C>G (p.Ala293=)
c.2151C>G (p.Ala717=)
c.1053C>G (p.Ala351=)
n.6338C>G
c.2409C>G (p.Ala803=)
c.2316C>G (p.Ala772=)
c.2235C>G (p.Ala745=)
c.2211C>G (p.Ala737=)
c.2118C>G (p.Ala706=)
c.1344C>G (p.Ala448=)
c.1257C>G (p.Ala419=)
c.1170C>G (p.Ala390=)
c.772-1126C>G (n.772-1126C>G)
n.977C>G
 dbSNP
17g.46023991C>TCA500371403MAPTc.1059C>T (p.Ala353=)
c.972C>T (p.Ala324=)
c.1146C>T (p.Ala382=)
n.372C>T
n.330C>T
n.564C>T
c.2322C>T (p.Ala774=)
c.2031C>T (p.Ala677=)
c.966C>T (p.Ala322=)
c.1095C>T (p.Ala365=)
c.2097C>T (p.Ala699=)
c.879C>T (p.Ala293=)
c.2151C>T (p.Ala717=)
c.1053C>T (p.Ala351=)
n.6338C>T
c.2409C>T (p.Ala803=)
c.2316C>T (p.Ala772=)
c.2235C>T (p.Ala745=)
c.2211C>T (p.Ala737=)
c.2118C>T (p.Ala706=)
c.1344C>T (p.Ala448=)
c.1257C>T (p.Ala419=)
c.1170C>T (p.Ala390=)
c.772-1126C>T (n.772-1126C>T)
n.977C>T
 gnomAD v4
17g.46023992A=CA2262106910MAPTc.1060A= (p.Lys354=)
c.973A= (p.Lys325=)
c.1147A= (p.Lys383=)
n.373A=
n.331A=
n.565A=
c.2323A= (p.Lys775=)
c.2032A= (p.Lys678=)
c.967A= (p.Lys323=)
c.1096A= (p.Lys366=)
c.2098A= (p.Lys700=)
c.880A= (p.Lys294=)
c.2152A= (p.Lys718=)
c.1054A= (p.Lys352=)
n.6339A=
c.2410A= (p.Lys804=)
c.2317A= (p.Lys773=)
c.2236A= (p.Lys746=)
c.2212A= (p.Lys738=)
c.2119A= (p.Lys707=)
c.1345A= (p.Lys449=)
c.1258A= (p.Lys420=)
c.1171A= (p.Lys391=)
c.772-1125A= (n.772-1125A=)
n.978A=
17g.46023992A>CCA399984338MAPTc.1060A>C (p.Lys354Gln)
c.973A>C (p.Lys325Gln)
c.1147A>C (p.Lys383Gln)
n.373A>C
n.331A>C
n.565A>C
c.2323A>C (p.Lys775Gln)
c.2032A>C (p.Lys678Gln)
c.967A>C (p.Lys323Gln)
c.1096A>C (p.Lys366Gln)
c.2098A>C (p.Lys700Gln)
c.880A>C (p.Lys294Gln)
c.2152A>C (p.Lys718Gln)
c.1054A>C (p.Lys352Gln)
n.6339A>C
c.2410A>C (p.Lys804Gln)
c.2317A>C (p.Lys773Gln)
c.2236A>C (p.Lys746Gln)
c.2212A>C (p.Lys738Gln)
c.2119A>C (p.Lys707Gln)
c.1345A>C (p.Lys449Gln)
c.1258A>C (p.Lys420Gln)
c.1171A>C (p.Lys391Gln)
c.772-1125A>C (n.772-1125A>C)
n.978A>C
17g.46023992A>GCA8618250MAPTc.1060A>G (p.Lys354Glu)
c.973A>G (p.Lys325Glu)
c.1147A>G (p.Lys383Glu)
n.373A>G
n.331A>G
n.565A>G
c.2323A>G (p.Lys775Glu)
c.2032A>G (p.Lys678Glu)
c.967A>G (p.Lys323Glu)
c.1096A>G (p.Lys366Glu)
c.2098A>G (p.Lys700Glu)
c.880A>G (p.Lys294Glu)
c.2152A>G (p.Lys718Glu)
c.1054A>G (p.Lys352Glu)
n.6339A>G
c.2410A>G (p.Lys804Glu)
c.2317A>G (p.Lys773Glu)
c.2236A>G (p.Lys746Glu)
c.2212A>G (p.Lys738Glu)
c.2119A>G (p.Lys707Glu)
c.1345A>G (p.Lys449Glu)
c.1258A>G (p.Lys420Glu)
c.1171A>G (p.Lys391Glu)
c.772-1125A>G (n.772-1125A>G)
n.978A>G
 dbSNP ExAC gnomAD v2
17g.46023992A>TCA399984339MAPTc.1060A>T (p.Lys354Ter)
c.973A>T (p.Lys325Ter)
c.1147A>T (p.Lys383Ter)
n.373A>T
n.331A>T
n.565A>T
c.2323A>T (p.Lys775Ter)
c.2032A>T (p.Lys678Ter)
c.967A>T (p.Lys323Ter)
c.1096A>T (p.Lys366Ter)
c.2098A>T (p.Lys700Ter)
c.880A>T (p.Lys294Ter)
c.2152A>T (p.Lys718Ter)
c.1054A>T (p.Lys352Ter)
n.6339A>T
c.2410A>T (p.Lys804Ter)
c.2317A>T (p.Lys773Ter)
c.2236A>T (p.Lys746Ter)
c.2212A>T (p.Lys738Ter)
c.2119A>T (p.Lys707Ter)
c.1345A>T (p.Lys449Ter)
c.1258A>T (p.Lys420Ter)
c.1171A>T (p.Lys391Ter)
c.772-1125A>T (n.772-1125A>T)
n.978A>T
17g.46023993A>CCA399984342MAPTc.1061A>C (p.Lys354Thr)
c.974A>C (p.Lys325Thr)
c.1148A>C (p.Lys383Thr)
n.374A>C
n.332A>C
n.566A>C
c.2324A>C (p.Lys775Thr)
c.2033A>C (p.Lys678Thr)
c.968A>C (p.Lys323Thr)
c.1097A>C (p.Lys366Thr)
c.2099A>C (p.Lys700Thr)
c.881A>C (p.Lys294Thr)
c.2153A>C (p.Lys718Thr)
c.1055A>C (p.Lys352Thr)
n.6340A>C
c.2411A>C (p.Lys804Thr)
c.2318A>C (p.Lys773Thr)
c.2237A>C (p.Lys746Thr)
c.2213A>C (p.Lys738Thr)
c.2120A>C (p.Lys707Thr)
c.1346A>C (p.Lys449Thr)
c.1259A>C (p.Lys420Thr)
c.1172A>C (p.Lys391Thr)
c.772-1124A>C (n.772-1124A>C)
n.979A>C
17g.46023993A>GCA399984340MAPTc.1061A>G (p.Lys354Arg)
c.974A>G (p.Lys325Arg)
c.1148A>G (p.Lys383Arg)
n.374A>G
n.332A>G
n.566A>G
c.2324A>G (p.Lys775Arg)
c.2033A>G (p.Lys678Arg)
c.968A>G (p.Lys323Arg)
c.1097A>G (p.Lys366Arg)
c.2099A>G (p.Lys700Arg)
c.881A>G (p.Lys294Arg)
c.2153A>G (p.Lys718Arg)
c.1055A>G (p.Lys352Arg)
n.6340A>G
c.2411A>G (p.Lys804Arg)
c.2318A>G (p.Lys773Arg)
c.2237A>G (p.Lys746Arg)
c.2213A>G (p.Lys738Arg)
c.2120A>G (p.Lys707Arg)
c.1346A>G (p.Lys449Arg)
c.1259A>G (p.Lys420Arg)
c.1172A>G (p.Lys391Arg)
c.772-1124A>G (n.772-1124A>G)
n.979A>G
17g.46023993A>TCA399984341MAPTc.1061A>T (p.Lys354Ile)
c.974A>T (p.Lys325Ile)
c.1148A>T (p.Lys383Ile)
n.374A>T
n.332A>T
n.566A>T
c.2324A>T (p.Lys775Ile)
c.2033A>T (p.Lys678Ile)
c.968A>T (p.Lys323Ile)
c.1097A>T (p.Lys366Ile)
c.2099A>T (p.Lys700Ile)
c.881A>T (p.Lys294Ile)
c.2153A>T (p.Lys718Ile)
c.1055A>T (p.Lys352Ile)
n.6340A>T
c.2411A>T (p.Lys804Ile)
c.2318A>T (p.Lys773Ile)
c.2237A>T (p.Lys746Ile)
c.2213A>T (p.Lys738Ile)
c.2120A>T (p.Lys707Ile)
c.1346A>T (p.Lys449Ile)
c.1259A>T (p.Lys420Ile)
c.1172A>T (p.Lys391Ile)
c.772-1124A>T (n.772-1124A>T)
n.979A>T
17g.46023994A>CCA399984343MAPTc.1062A>C (p.Lys354Asn)
c.975A>C (p.Lys325Asn)
c.1149A>C (p.Lys383Asn)
n.375A>C
n.333A>C
n.567A>C
c.2325A>C (p.Lys775Asn)
c.2034A>C (p.Lys678Asn)
c.969A>C (p.Lys323Asn)
c.1098A>C (p.Lys366Asn)
c.2100A>C (p.Lys700Asn)
c.882A>C (p.Lys294Asn)
c.2154A>C (p.Lys718Asn)
c.1056A>C (p.Lys352Asn)
n.6341A>C
c.2412A>C (p.Lys804Asn)
c.2319A>C (p.Lys773Asn)
c.2238A>C (p.Lys746Asn)
c.2214A>C (p.Lys738Asn)
c.2121A>C (p.Lys707Asn)
c.1347A>C (p.Lys449Asn)
c.1260A>C (p.Lys420Asn)
c.1173A>C (p.Lys391Asn)
c.772-1123A>C (n.772-1123A>C)
n.980A>C
17g.46023994A>GCA500371406MAPTc.1062A>G (p.Lys354=)
c.975A>G (p.Lys325=)
c.1149A>G (p.Lys383=)
n.375A>G
n.333A>G
n.567A>G
c.2325A>G (p.Lys775=)
c.2034A>G (p.Lys678=)
c.969A>G (p.Lys323=)
c.1098A>G (p.Lys366=)
c.2100A>G (p.Lys700=)
c.882A>G (p.Lys294=)
c.2154A>G (p.Lys718=)
c.1056A>G (p.Lys352=)
n.6341A>G
c.2412A>G (p.Lys804=)
c.2319A>G (p.Lys773=)
c.2238A>G (p.Lys746=)
c.2214A>G (p.Lys738=)
c.2121A>G (p.Lys707=)
c.1347A>G (p.Lys449=)
c.1260A>G (p.Lys420=)
c.1173A>G (p.Lys391=)
c.772-1123A>G (n.772-1123A>G)
n.980A>G
17g.46023994A>TCA399984344MAPTc.1062A>T (p.Lys354Asn)
c.975A>T (p.Lys325Asn)
c.1149A>T (p.Lys383Asn)
n.375A>T
n.333A>T
n.567A>T
c.2325A>T (p.Lys775Asn)
c.2034A>T (p.Lys678Asn)
c.969A>T (p.Lys323Asn)
c.1098A>T (p.Lys366Asn)
c.2100A>T (p.Lys700Asn)
c.882A>T (p.Lys294Asn)
c.2154A>T (p.Lys718Asn)
c.1056A>T (p.Lys352Asn)
n.6341A>T
c.2412A>T (p.Lys804Asn)
c.2319A>T (p.Lys773Asn)
c.2238A>T (p.Lys746Asn)
c.2214A>T (p.Lys738Asn)
c.2121A>T (p.Lys707Asn)
c.1347A>T (p.Lys449Asn)
c.1260A>T (p.Lys420Asn)
c.1173A>T (p.Lys391Asn)
c.772-1123A>T (n.772-1123A>T)
n.980A>T
17g.46023995G>ACA399984345MAPTc.1063G>A (p.Ala355Thr)
c.976G>A (p.Ala326Thr)
c.1150G>A (p.Ala384Thr)
n.376G>A
n.334G>A
n.568G>A
c.2326G>A (p.Ala776Thr)
c.2035G>A (p.Ala679Thr)
c.970G>A (p.Ala324Thr)
c.1099G>A (p.Ala367Thr)
c.2101G>A (p.Ala701Thr)
c.883G>A (p.Ala295Thr)
c.2155G>A (p.Ala719Thr)
c.1057G>A (p.Ala353Thr)
n.6342G>A
c.2413G>A (p.Ala805Thr)
c.2320G>A (p.Ala774Thr)
c.2239G>A (p.Ala747Thr)
c.2215G>A (p.Ala739Thr)
c.2122G>A (p.Ala708Thr)
c.1348G>A (p.Ala450Thr)
c.1261G>A (p.Ala421Thr)
c.1174G>A (p.Ala392Thr)
c.772-1122G>A (n.772-1122G>A)
n.981G>A
17g.46023995G>CCA399984346MAPTc.1063G>C (p.Ala355Pro)
c.976G>C (p.Ala326Pro)
c.1150G>C (p.Ala384Pro)
n.376G>C
n.334G>C
n.568G>C
c.2326G>C (p.Ala776Pro)
c.2035G>C (p.Ala679Pro)
c.970G>C (p.Ala324Pro)
c.1099G>C (p.Ala367Pro)
c.2101G>C (p.Ala701Pro)
c.883G>C (p.Ala295Pro)
c.2155G>C (p.Ala719Pro)
c.1057G>C (p.Ala353Pro)
n.6342G>C
c.2413G>C (p.Ala805Pro)
c.2320G>C (p.Ala774Pro)
c.2239G>C (p.Ala747Pro)
c.2215G>C (p.Ala739Pro)
c.2122G>C (p.Ala708Pro)
c.1348G>C (p.Ala450Pro)
c.1261G>C (p.Ala421Pro)
c.1174G>C (p.Ala392Pro)
c.772-1122G>C (n.772-1122G>C)
n.981G>C
17g.46023995G>TCA399984347MAPTc.1063G>T (p.Ala355Ser)
c.976G>T (p.Ala326Ser)
c.1150G>T (p.Ala384Ser)
n.376G>T
n.334G>T
n.568G>T
c.2326G>T (p.Ala776Ser)
c.2035G>T (p.Ala679Ser)
c.970G>T (p.Ala324Ser)
c.1099G>T (p.Ala367Ser)
c.2101G>T (p.Ala701Ser)
c.883G>T (p.Ala295Ser)
c.2155G>T (p.Ala719Ser)
c.1057G>T (p.Ala353Ser)
n.6342G>T
c.2413G>T (p.Ala805Ser)
c.2320G>T (p.Ala774Ser)
c.2239G>T (p.Ala747Ser)
c.2215G>T (p.Ala739Ser)
c.2122G>T (p.Ala708Ser)
c.1348G>T (p.Ala450Ser)
c.1261G>T (p.Ala421Ser)
c.1174G>T (p.Ala392Ser)
c.772-1122G>T (n.772-1122G>T)
n.981G>T
17g.46023996C>ACA399984348MAPTc.1064C>A (p.Ala355Asp)
c.977C>A (p.Ala326Asp)
c.1151C>A (p.Ala384Asp)
n.377C>A
n.335C>A
n.569C>A
c.2327C>A (p.Ala776Asp)
c.2036C>A (p.Ala679Asp)
c.971C>A (p.Ala324Asp)
c.1100C>A (p.Ala367Asp)
c.2102C>A (p.Ala701Asp)
c.884C>A (p.Ala295Asp)
c.2156C>A (p.Ala719Asp)
c.1058C>A (p.Ala353Asp)
n.6343C>A
c.2414C>A (p.Ala805Asp)
c.2321C>A (p.Ala774Asp)
c.2240C>A (p.Ala747Asp)
c.2216C>A (p.Ala739Asp)
c.2123C>A (p.Ala708Asp)
c.1349C>A (p.Ala450Asp)
c.1262C>A (p.Ala421Asp)
c.1175C>A (p.Ala392Asp)
c.772-1121C>A (n.772-1121C>A)
n.982C>A
17g.46023996C>GCA399984350MAPTc.1064C>G (p.Ala355Gly)
c.977C>G (p.Ala326Gly)
c.1151C>G (p.Ala384Gly)
n.377C>G
n.335C>G
n.569C>G
c.2327C>G (p.Ala776Gly)
c.2036C>G (p.Ala679Gly)
c.971C>G (p.Ala324Gly)
c.1100C>G (p.Ala367Gly)
c.2102C>G (p.Ala701Gly)
c.884C>G (p.Ala295Gly)
c.2156C>G (p.Ala719Gly)
c.1058C>G (p.Ala353Gly)
n.6343C>G
c.2414C>G (p.Ala805Gly)
c.2321C>G (p.Ala774Gly)
c.2240C>G (p.Ala747Gly)
c.2216C>G (p.Ala739Gly)
c.2123C>G (p.Ala708Gly)
c.1349C>G (p.Ala450Gly)
c.1262C>G (p.Ala421Gly)
c.1175C>G (p.Ala392Gly)
c.772-1121C>G (n.772-1121C>G)
n.982C>G
17g.46023996C>TCA399984349MAPTc.1064C>T (p.Ala355Val)
c.977C>T (p.Ala326Val)
c.1151C>T (p.Ala384Val)
n.377C>T
n.335C>T
n.569C>T
c.2327C>T (p.Ala776Val)
c.2036C>T (p.Ala679Val)
c.971C>T (p.Ala324Val)
c.1100C>T (p.Ala367Val)
c.2102C>T (p.Ala701Val)
c.884C>T (p.Ala295Val)
c.2156C>T (p.Ala719Val)
c.1058C>T (p.Ala353Val)
n.6343C>T
c.2414C>T (p.Ala805Val)
c.2321C>T (p.Ala774Val)
c.2240C>T (p.Ala747Val)
c.2216C>T (p.Ala739Val)
c.2123C>T (p.Ala708Val)
c.1349C>T (p.Ala450Val)
c.1262C>T (p.Ala421Val)
c.1175C>T (p.Ala392Val)
c.772-1121C>T (n.772-1121C>T)
n.982C>T
17g.46023997C>ACA500371408MAPTc.1065C>A (p.Ala355=)
c.978C>A (p.Ala326=)
c.1152C>A (p.Ala384=)
n.378C>A
n.336C>A
n.570C>A
c.2328C>A (p.Ala776=)
c.2037C>A (p.Ala679=)
c.972C>A (p.Ala324=)
c.1101C>A (p.Ala367=)
c.2103C>A (p.Ala701=)
c.885C>A (p.Ala295=)
c.2157C>A (p.Ala719=)
c.1059C>A (p.Ala353=)
n.6344C>A
c.2415C>A (p.Ala805=)
c.2322C>A (p.Ala774=)
c.2241C>A (p.Ala747=)
c.2217C>A (p.Ala739=)
c.2124C>A (p.Ala708=)
c.1350C>A (p.Ala450=)
c.1263C>A (p.Ala421=)
c.1176C>A (p.Ala392=)
c.772-1120C>A (n.772-1120C>A)
n.983C>A
17g.46023997C>GCA500371407MAPTc.1065C>G (p.Ala355=)
c.978C>G (p.Ala326=)
c.1152C>G (p.Ala384=)
n.378C>G
n.336C>G
n.570C>G
c.2328C>G (p.Ala776=)
c.2037C>G (p.Ala679=)
c.972C>G (p.Ala324=)
c.1101C>G (p.Ala367=)
c.2103C>G (p.Ala701=)
c.885C>G (p.Ala295=)
c.2157C>G (p.Ala719=)
c.1059C>G (p.Ala353=)
n.6344C>G
c.2415C>G (p.Ala805=)
c.2322C>G (p.Ala774=)
c.2241C>G (p.Ala747=)
c.2217C>G (p.Ala739=)
c.2124C>G (p.Ala708=)
c.1350C>G (p.Ala450=)
c.1263C>G (p.Ala421=)
c.1176C>G (p.Ala392=)
c.772-1120C>G (n.772-1120C>G)
n.983C>G
17g.46023997C>TCA500371409MAPTc.1065C>T (p.Ala355=)
c.978C>T (p.Ala326=)
c.1152C>T (p.Ala384=)
n.378C>T
n.336C>T
n.570C>T
c.2328C>T (p.Ala776=)
c.2037C>T (p.Ala679=)
c.972C>T (p.Ala324=)
c.1101C>T (p.Ala367=)
c.2103C>T (p.Ala701=)
c.885C>T (p.Ala295=)
c.2157C>T (p.Ala719=)
c.1059C>T (p.Ala353=)
n.6344C>T
c.2415C>T (p.Ala805=)
c.2322C>T (p.Ala774=)
c.2241C>T (p.Ala747=)
c.2217C>T (p.Ala739=)
c.2124C>T (p.Ala708=)
c.1350C>T (p.Ala450=)
c.1263C>T (p.Ala421=)
c.1176C>T (p.Ala392=)
c.772-1120C>T (n.772-1120C>T)
n.983C>T
 ClinVar dbSNP
17g.46023998A=CA2262106911MAPTc.1066A= (p.Lys356=)
c.979A= (p.Lys327=)
c.1153A= (p.Lys385=)
n.379A=
n.337A=
n.571A=
c.2329A= (p.Lys777=)
c.2038A= (p.Lys680=)
c.973A= (p.Lys325=)
c.1102A= (p.Lys368=)
c.2104A= (p.Lys702=)
c.886A= (p.Lys296=)
c.2158A= (p.Lys720=)
c.1060A= (p.Lys354=)
n.6345A=
c.2416A= (p.Lys806=)
c.2323A= (p.Lys775=)
c.2242A= (p.Lys748=)
c.2218A= (p.Lys740=)
c.2125A= (p.Lys709=)
c.1351A= (p.Lys451=)
c.1264A= (p.Lys422=)
c.1177A= (p.Lys393=)
c.772-1119A= (n.772-1119A=)
n.984A=
17g.46023998A>CCA399984351MAPTc.1066A>C (p.Lys356Gln)
c.979A>C (p.Lys327Gln)
c.1153A>C (p.Lys385Gln)
n.379A>C
n.337A>C
n.571A>C
c.2329A>C (p.Lys777Gln)
c.2038A>C (p.Lys680Gln)
c.973A>C (p.Lys325Gln)
c.1102A>C (p.Lys368Gln)
c.2104A>C (p.Lys702Gln)
c.886A>C (p.Lys296Gln)
c.2158A>C (p.Lys720Gln)
c.1060A>C (p.Lys354Gln)
n.6345A>C
c.2416A>C (p.Lys806Gln)
c.2323A>C (p.Lys775Gln)
c.2242A>C (p.Lys748Gln)
c.2218A>C (p.Lys740Gln)
c.2125A>C (p.Lys709Gln)
c.1351A>C (p.Lys451Gln)
c.1264A>C (p.Lys422Gln)
c.1177A>C (p.Lys393Gln)
c.772-1119A>C (n.772-1119A>C)
n.984A>C
17g.46023998A>GCA8618251MAPTc.1066A>G (p.Lys356Glu)
c.979A>G (p.Lys327Glu)
c.1153A>G (p.Lys385Glu)
n.379A>G
n.337A>G
n.571A>G
c.2329A>G (p.Lys777Glu)
c.2038A>G (p.Lys680Glu)
c.973A>G (p.Lys325Glu)
c.1102A>G (p.Lys368Glu)
c.2104A>G (p.Lys702Glu)
c.886A>G (p.Lys296Glu)
c.2158A>G (p.Lys720Glu)
c.1060A>G (p.Lys354Glu)
n.6345A>G
c.2416A>G (p.Lys806Glu)
c.2323A>G (p.Lys775Glu)
c.2242A>G (p.Lys748Glu)
c.2218A>G (p.Lys740Glu)
c.2125A>G (p.Lys709Glu)
c.1351A>G (p.Lys451Glu)
c.1264A>G (p.Lys422Glu)
c.1177A>G (p.Lys393Glu)
c.772-1119A>G (n.772-1119A>G)
n.984A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46023998A>TCA399984352MAPTc.1066A>T (p.Lys356Ter)
c.979A>T (p.Lys327Ter)
c.1153A>T (p.Lys385Ter)
n.379A>T
n.337A>T
n.571A>T
c.2329A>T (p.Lys777Ter)
c.2038A>T (p.Lys680Ter)
c.973A>T (p.Lys325Ter)
c.1102A>T (p.Lys368Ter)
c.2104A>T (p.Lys702Ter)
c.886A>T (p.Lys296Ter)
c.2158A>T (p.Lys720Ter)
c.1060A>T (p.Lys354Ter)
n.6345A>T
c.2416A>T (p.Lys806Ter)
c.2323A>T (p.Lys775Ter)
c.2242A>T (p.Lys748Ter)
c.2218A>T (p.Lys740Ter)
c.2125A>T (p.Lys709Ter)
c.1351A>T (p.Lys451Ter)
c.1264A>T (p.Lys422Ter)
c.1177A>T (p.Lys393Ter)
c.772-1119A>T (n.772-1119A>T)
n.984A>T
17g.46023999A>CCA399984353MAPTc.1067A>C (p.Lys356Thr)
c.980A>C (p.Lys327Thr)
c.1154A>C (p.Lys385Thr)
n.380A>C
n.338A>C
n.572A>C
c.2330A>C (p.Lys777Thr)
c.2039A>C (p.Lys680Thr)
c.974A>C (p.Lys325Thr)
c.1103A>C (p.Lys368Thr)
c.2105A>C (p.Lys702Thr)
c.887A>C (p.Lys296Thr)
c.2159A>C (p.Lys720Thr)
c.1061A>C (p.Lys354Thr)
n.6346A>C
c.2417A>C (p.Lys806Thr)
c.2324A>C (p.Lys775Thr)
c.2243A>C (p.Lys748Thr)
c.2219A>C (p.Lys740Thr)
c.2126A>C (p.Lys709Thr)
c.1352A>C (p.Lys451Thr)
c.1265A>C (p.Lys422Thr)
c.1178A>C (p.Lys393Thr)
c.772-1118A>C (n.772-1118A>C)
n.985A>C
17g.46023999A>GCA399984354MAPTc.1067A>G (p.Lys356Arg)
c.980A>G (p.Lys327Arg)
c.1154A>G (p.Lys385Arg)
n.380A>G
n.338A>G
n.572A>G
c.2330A>G (p.Lys777Arg)
c.2039A>G (p.Lys680Arg)
c.974A>G (p.Lys325Arg)
c.1103A>G (p.Lys368Arg)
c.2105A>G (p.Lys702Arg)
c.887A>G (p.Lys296Arg)
c.2159A>G (p.Lys720Arg)
c.1061A>G (p.Lys354Arg)
n.6346A>G
c.2417A>G (p.Lys806Arg)
c.2324A>G (p.Lys775Arg)
c.2243A>G (p.Lys748Arg)
c.2219A>G (p.Lys740Arg)
c.2126A>G (p.Lys709Arg)
c.1352A>G (p.Lys451Arg)
c.1265A>G (p.Lys422Arg)
c.1178A>G (p.Lys393Arg)
c.772-1118A>G (n.772-1118A>G)
n.985A>G
17g.46023999A>TCA399984355MAPTc.1067A>T (p.Lys356Met)
c.980A>T (p.Lys327Met)
c.1154A>T (p.Lys385Met)
n.380A>T
n.338A>T
n.572A>T
c.2330A>T (p.Lys777Met)
c.2039A>T (p.Lys680Met)
c.974A>T (p.Lys325Met)
c.1103A>T (p.Lys368Met)
c.2105A>T (p.Lys702Met)
c.887A>T (p.Lys296Met)
c.2159A>T (p.Lys720Met)
c.1061A>T (p.Lys354Met)
n.6346A>T
c.2417A>T (p.Lys806Met)
c.2324A>T (p.Lys775Met)
c.2243A>T (p.Lys748Met)
c.2219A>T (p.Lys740Met)
c.2126A>T (p.Lys709Met)
c.1352A>T (p.Lys451Met)
c.1265A>T (p.Lys422Met)
c.1178A>T (p.Lys393Met)
c.772-1118A>T (n.772-1118A>T)
n.985A>T
17g.46024003_46024006delCA2638368845MAPTc.1071_1074del (p.Asp358ThrfsTer?)
c.984_987del (p.Asp329ThrfsTer?)
c.1158_1161del (p.Asp387ThrfsTer?)
n.384_387del
n.342_345del
n.576_579del
c.2334_2337del (p.Asp779ThrfsTer?)
c.2043_2046del (p.Asp682ThrfsTer?)
c.978_981del (p.Asp327ThrfsTer?)
c.1107_1110del (p.Asp370ThrfsTer?)
c.2109_2112del (p.Asp704ThrfsTer?)
c.891_894del (p.Asp298ThrfsTer?)
c.2163_2166del (p.Asp722ThrfsTer?)
c.1065_1068del (p.Asp356ThrfsTer?)
n.6350_6353del
c.2421_2424del (p.Asp808ThrfsTer?)
c.2328_2331del (p.Asp777ThrfsTer?)
c.2247_2250del (p.Asp750ThrfsTer?)
c.2223_2226del (p.Asp742ThrfsTer?)
c.2130_2133del (p.Asp711ThrfsTer?)
c.1356_1359del (p.Asp453ThrfsTer?)
c.1269_1272del (p.Asp424ThrfsTer?)
c.1182_1185del (p.Asp395ThrfsTer?)
c.772-1114_772-1111del (n.772-1114_772-1111del)
n.989_992del
 gnomAD v4
17g.46024000G>ACA500371413MAPTc.1068G>A (p.Lys356=)
c.981G>A (p.Lys327=)
c.1155G>A (p.Lys385=)
n.381G>A
n.339G>A
n.573G>A
c.2331G>A (p.Lys777=)
c.2040G>A (p.Lys680=)
c.975G>A (p.Lys325=)
c.1104G>A (p.Lys368=)
c.2106G>A (p.Lys702=)
c.888G>A (p.Lys296=)
c.2160G>A (p.Lys720=)
c.1062G>A (p.Lys354=)
n.6347G>A
c.2418G>A (p.Lys806=)
c.2325G>A (p.Lys775=)
c.2244G>A (p.Lys748=)
c.2220G>A (p.Lys740=)
c.2127G>A (p.Lys709=)
c.1353G>A (p.Lys451=)
c.1266G>A (p.Lys422=)
c.1179G>A (p.Lys393=)
c.772-1117G>A (n.772-1117G>A)
n.986G>A
17g.46024000G>CCA399984356MAPTc.1068G>C (p.Lys356Asn)
c.981G>C (p.Lys327Asn)
c.1155G>C (p.Lys385Asn)
n.381G>C
n.339G>C
n.573G>C
c.2331G>C (p.Lys777Asn)
c.2040G>C (p.Lys680Asn)
c.975G>C (p.Lys325Asn)
c.1104G>C (p.Lys368Asn)
c.2106G>C (p.Lys702Asn)
c.888G>C (p.Lys296Asn)
c.2160G>C (p.Lys720Asn)
c.1062G>C (p.Lys354Asn)
n.6347G>C
c.2418G>C (p.Lys806Asn)
c.2325G>C (p.Lys775Asn)
c.2244G>C (p.Lys748Asn)
c.2220G>C (p.Lys740Asn)
c.2127G>C (p.Lys709Asn)
c.1353G>C (p.Lys451Asn)
c.1266G>C (p.Lys422Asn)
c.1179G>C (p.Lys393Asn)
c.772-1117G>C (n.772-1117G>C)
n.986G>C
17g.46024000G>TCA399984357MAPTc.1068G>T (p.Lys356Asn)
c.981G>T (p.Lys327Asn)
c.1155G>T (p.Lys385Asn)
n.381G>T
n.339G>T
n.573G>T
c.2331G>T (p.Lys777Asn)
c.2040G>T (p.Lys680Asn)
c.975G>T (p.Lys325Asn)
c.1104G>T (p.Lys368Asn)
c.2106G>T (p.Lys702Asn)
c.888G>T (p.Lys296Asn)
c.2160G>T (p.Lys720Asn)
c.1062G>T (p.Lys354Asn)
n.6347G>T
c.2418G>T (p.Lys806Asn)
c.2325G>T (p.Lys775Asn)
c.2244G>T (p.Lys748Asn)
c.2220G>T (p.Lys740Asn)
c.2127G>T (p.Lys709Asn)
c.1353G>T (p.Lys451Asn)
c.1266G>T (p.Lys422Asn)
c.1179G>T (p.Lys393Asn)
c.772-1117G>T (n.772-1117G>T)
n.986G>T
17g.46024001A>CCA399984358MAPTc.1069A>C (p.Thr357Pro)
c.982A>C (p.Thr328Pro)
c.1156A>C (p.Thr386Pro)
n.382A>C
n.340A>C
n.574A>C
c.2332A>C (p.Thr778Pro)
c.2041A>C (p.Thr681Pro)
c.976A>C (p.Thr326Pro)
c.1105A>C (p.Thr369Pro)
c.2107A>C (p.Thr703Pro)
c.889A>C (p.Thr297Pro)
c.2161A>C (p.Thr721Pro)
c.1063A>C (p.Thr355Pro)
n.6348A>C
c.2419A>C (p.Thr807Pro)
c.2326A>C (p.Thr776Pro)
c.2245A>C (p.Thr749Pro)
c.2221A>C (p.Thr741Pro)
c.2128A>C (p.Thr710Pro)
c.1354A>C (p.Thr452Pro)
c.1267A>C (p.Thr423Pro)
c.1180A>C (p.Thr394Pro)
c.772-1116A>C (n.772-1116A>C)
n.987A>C
17g.46024001A>GCA399984359MAPTc.1069A>G (p.Thr357Ala)
c.982A>G (p.Thr328Ala)
c.1156A>G (p.Thr386Ala)
n.382A>G
n.340A>G
n.574A>G
c.2332A>G (p.Thr778Ala)
c.2041A>G (p.Thr681Ala)
c.976A>G (p.Thr326Ala)
c.1105A>G (p.Thr369Ala)
c.2107A>G (p.Thr703Ala)
c.889A>G (p.Thr297Ala)
c.2161A>G (p.Thr721Ala)
c.1063A>G (p.Thr355Ala)
n.6348A>G
c.2419A>G (p.Thr807Ala)
c.2326A>G (p.Thr776Ala)
c.2245A>G (p.Thr749Ala)
c.2221A>G (p.Thr741Ala)
c.2128A>G (p.Thr710Ala)
c.1354A>G (p.Thr452Ala)
c.1267A>G (p.Thr423Ala)
c.1180A>G (p.Thr394Ala)
c.772-1116A>G (n.772-1116A>G)
n.987A>G
17g.46024001A>TCA399984360MAPTc.1069A>T (p.Thr357Ser)
c.982A>T (p.Thr328Ser)
c.1156A>T (p.Thr386Ser)
n.382A>T
n.340A>T
n.574A>T
c.2332A>T (p.Thr778Ser)
c.2041A>T (p.Thr681Ser)
c.976A>T (p.Thr326Ser)
c.1105A>T (p.Thr369Ser)
c.2107A>T (p.Thr703Ser)
c.889A>T (p.Thr297Ser)
c.2161A>T (p.Thr721Ser)
c.1063A>T (p.Thr355Ser)
n.6348A>T
c.2419A>T (p.Thr807Ser)
c.2326A>T (p.Thr776Ser)
c.2245A>T (p.Thr749Ser)
c.2221A>T (p.Thr741Ser)
c.2128A>T (p.Thr710Ser)
c.1354A>T (p.Thr452Ser)
c.1267A>T (p.Thr423Ser)
c.1180A>T (p.Thr394Ser)
c.772-1116A>T (n.772-1116A>T)
n.987A>T
17g.46024002C>ACA399984361MAPTc.1070C>A (p.Thr357Lys)
c.983C>A (p.Thr328Lys)
c.1157C>A (p.Thr386Lys)
n.383C>A
n.341C>A
n.575C>A
c.2333C>A (p.Thr778Lys)
c.2042C>A (p.Thr681Lys)
c.977C>A (p.Thr326Lys)
c.1106C>A (p.Thr369Lys)
c.2108C>A (p.Thr703Lys)
c.890C>A (p.Thr297Lys)
c.2162C>A (p.Thr721Lys)
c.1064C>A (p.Thr355Lys)
n.6349C>A
c.2420C>A (p.Thr807Lys)
c.2327C>A (p.Thr776Lys)
c.2246C>A (p.Thr749Lys)
c.2222C>A (p.Thr741Lys)
c.2129C>A (p.Thr710Lys)
c.1355C>A (p.Thr452Lys)
c.1268C>A (p.Thr423Lys)
c.1181C>A (p.Thr394Lys)
c.772-1115C>A (n.772-1115C>A)
n.988C>A
17g.46024002C=CA2262106912MAPTc.1070C= (p.Thr357=)
c.983C= (p.Thr328=)
c.1157C= (p.Thr386=)
n.383C=
n.341C=
n.575C=
c.2333C= (p.Thr778=)
c.2042C= (p.Thr681=)
c.977C= (p.Thr326=)
c.1106C= (p.Thr369=)
c.2108C= (p.Thr703=)
c.890C= (p.Thr297=)
c.2162C= (p.Thr721=)
c.1064C= (p.Thr355=)
n.6349C=
c.2420C= (p.Thr807=)
c.2327C= (p.Thr776=)
c.2246C= (p.Thr749=)
c.2222C= (p.Thr741=)
c.2129C= (p.Thr710=)
c.1355C= (p.Thr452=)
c.1268C= (p.Thr423=)
c.1181C= (p.Thr394=)
c.772-1115C= (n.772-1115C=)
n.988C=
17g.46024002C>GCA399984363MAPTc.1070C>G (p.Thr357Arg)
c.983C>G (p.Thr328Arg)
c.1157C>G (p.Thr386Arg)
n.383C>G
n.341C>G
n.575C>G
c.2333C>G (p.Thr778Arg)
c.2042C>G (p.Thr681Arg)
c.977C>G (p.Thr326Arg)
c.1106C>G (p.Thr369Arg)
c.2108C>G (p.Thr703Arg)
c.890C>G (p.Thr297Arg)
c.2162C>G (p.Thr721Arg)
c.1064C>G (p.Thr355Arg)
n.6349C>G
c.2420C>G (p.Thr807Arg)
c.2327C>G (p.Thr776Arg)
c.2246C>G (p.Thr749Arg)
c.2222C>G (p.Thr741Arg)
c.2129C>G (p.Thr710Arg)
c.1355C>G (p.Thr452Arg)
c.1268C>G (p.Thr423Arg)
c.1181C>G (p.Thr394Arg)
c.772-1115C>G (n.772-1115C>G)
n.988C>G
 gnomAD v4
17g.46024002C>TCA399984362MAPTc.1070C>T (p.Thr357Ile)
c.983C>T (p.Thr328Ile)
c.1157C>T (p.Thr386Ile)
n.383C>T
n.341C>T
n.575C>T
c.2333C>T (p.Thr778Ile)
c.2042C>T (p.Thr681Ile)
c.977C>T (p.Thr326Ile)
c.1106C>T (p.Thr369Ile)
c.2108C>T (p.Thr703Ile)
c.890C>T (p.Thr297Ile)
c.2162C>T (p.Thr721Ile)
c.1064C>T (p.Thr355Ile)
n.6349C>T
c.2420C>T (p.Thr807Ile)
c.2327C>T (p.Thr776Ile)
c.2246C>T (p.Thr749Ile)
c.2222C>T (p.Thr741Ile)
c.2129C>T (p.Thr710Ile)
c.1355C>T (p.Thr452Ile)
c.1268C>T (p.Thr423Ile)
c.1181C>T (p.Thr394Ile)
c.772-1115C>T (n.772-1115C>T)
n.988C>T
 dbSNP gnomAD v2 gnomAD v4
17g.46024003A=CA2262106913MAPTc.1071A= (p.Thr357=)
c.984A= (p.Thr328=)
c.1158A= (p.Thr386=)
n.384A=
n.342A=
n.576A=
c.2334A= (p.Thr778=)
c.2043A= (p.Thr681=)
c.978A= (p.Thr326=)
c.1107A= (p.Thr369=)
c.2109A= (p.Thr703=)
c.891A= (p.Thr297=)
c.2163A= (p.Thr721=)
c.1065A= (p.Thr355=)
n.6350A=
c.2421A= (p.Thr807=)
c.2328A= (p.Thr776=)
c.2247A= (p.Thr749=)
c.2223A= (p.Thr741=)
c.2130A= (p.Thr710=)
c.1356A= (p.Thr452=)
c.1269A= (p.Thr423=)
c.1182A= (p.Thr394=)
c.772-1114A= (n.772-1114A=)
n.989A=
17g.46024003A>CCA500371417MAPTc.1071A>C (p.Thr357=)
c.984A>C (p.Thr328=)
c.1158A>C (p.Thr386=)
n.384A>C
n.342A>C
n.576A>C
c.2334A>C (p.Thr778=)
c.2043A>C (p.Thr681=)
c.978A>C (p.Thr326=)
c.1107A>C (p.Thr369=)
c.2109A>C (p.Thr703=)
c.891A>C (p.Thr297=)
c.2163A>C (p.Thr721=)
c.1065A>C (p.Thr355=)
n.6350A>C
c.2421A>C (p.Thr807=)
c.2328A>C (p.Thr776=)
c.2247A>C (p.Thr749=)
c.2223A>C (p.Thr741=)
c.2130A>C (p.Thr710=)
c.1356A>C (p.Thr452=)
c.1269A>C (p.Thr423=)
c.1182A>C (p.Thr394=)
c.772-1114A>C (n.772-1114A>C)
n.989A>C
17g.46024003A>GCA500371415MAPTc.1071A>G (p.Thr357=)
c.984A>G (p.Thr328=)
c.1158A>G (p.Thr386=)
n.384A>G
n.342A>G
n.576A>G
c.2334A>G (p.Thr778=)
c.2043A>G (p.Thr681=)
c.978A>G (p.Thr326=)
c.1107A>G (p.Thr369=)
c.2109A>G (p.Thr703=)
c.891A>G (p.Thr297=)
c.2163A>G (p.Thr721=)
c.1065A>G (p.Thr355=)
n.6350A>G
c.2421A>G (p.Thr807=)
c.2328A>G (p.Thr776=)
c.2247A>G (p.Thr749=)
c.2223A>G (p.Thr741=)
c.2130A>G (p.Thr710=)
c.1356A>G (p.Thr452=)
c.1269A>G (p.Thr423=)
c.1182A>G (p.Thr394=)
c.772-1114A>G (n.772-1114A>G)
n.989A>G
 dbSNP gnomAD v2
17g.46024003A>TCA500371416MAPTc.1071A>T (p.Thr357=)
c.984A>T (p.Thr328=)
c.1158A>T (p.Thr386=)
n.384A>T
n.342A>T
n.576A>T
c.2334A>T (p.Thr778=)
c.2043A>T (p.Thr681=)
c.978A>T (p.Thr326=)
c.1107A>T (p.Thr369=)
c.2109A>T (p.Thr703=)
c.891A>T (p.Thr297=)
c.2163A>T (p.Thr721=)
c.1065A>T (p.Thr355=)
n.6350A>T
c.2421A>T (p.Thr807=)
c.2328A>T (p.Thr776=)
c.2247A>T (p.Thr749=)
c.2223A>T (p.Thr741=)
c.2130A>T (p.Thr710=)
c.1356A>T (p.Thr452=)
c.1269A>T (p.Thr423=)
c.1182A>T (p.Thr394=)
c.772-1114A>T (n.772-1114A>T)
n.989A>T
17g.46024004G>ACA399984364MAPTc.1072G>A (p.Asp358Asn)
c.985G>A (p.Asp329Asn)
c.1159G>A (p.Asp387Asn)
n.385G>A
n.343G>A
n.577G>A
c.2335G>A (p.Asp779Asn)
c.2044G>A (p.Asp682Asn)
c.979G>A (p.Asp327Asn)
c.1108G>A (p.Asp370Asn)
c.2110G>A (p.Asp704Asn)
c.892G>A (p.Asp298Asn)
c.2164G>A (p.Asp722Asn)
c.1066G>A (p.Asp356Asn)
n.6351G>A
c.2422G>A (p.Asp808Asn)
c.2329G>A (p.Asp777Asn)
c.2248G>A (p.Asp750Asn)
c.2224G>A (p.Asp742Asn)
c.2131G>A (p.Asp711Asn)
c.1357G>A (p.Asp453Asn)
c.1270G>A (p.Asp424Asn)
c.1183G>A (p.Asp395Asn)
c.772-1113G>A (n.772-1113G>A)
n.990G>A
17g.46024004G>CCA399984366MAPTc.1072G>C (p.Asp358His)
c.985G>C (p.Asp329His)
c.1159G>C (p.Asp387His)
n.385G>C
n.343G>C
n.577G>C
c.2335G>C (p.Asp779His)
c.2044G>C (p.Asp682His)
c.979G>C (p.Asp327His)
c.1108G>C (p.Asp370His)
c.2110G>C (p.Asp704His)
c.892G>C (p.Asp298His)
c.2164G>C (p.Asp722His)
c.1066G>C (p.Asp356His)
n.6351G>C
c.2422G>C (p.Asp808His)
c.2329G>C (p.Asp777His)
c.2248G>C (p.Asp750His)
c.2224G>C (p.Asp742His)
c.2131G>C (p.Asp711His)
c.1357G>C (p.Asp453His)
c.1270G>C (p.Asp424His)
c.1183G>C (p.Asp395His)
c.772-1113G>C (n.772-1113G>C)
n.990G>C
17g.46024004G>TCA399984365MAPTc.1072G>T (p.Asp358Tyr)
c.985G>T (p.Asp329Tyr)
c.1159G>T (p.Asp387Tyr)
n.385G>T
n.343G>T
n.577G>T
c.2335G>T (p.Asp779Tyr)
c.2044G>T (p.Asp682Tyr)
c.979G>T (p.Asp327Tyr)
c.1108G>T (p.Asp370Tyr)
c.2110G>T (p.Asp704Tyr)
c.892G>T (p.Asp298Tyr)
c.2164G>T (p.Asp722Tyr)
c.1066G>T (p.Asp356Tyr)
n.6351G>T
c.2422G>T (p.Asp808Tyr)
c.2329G>T (p.Asp777Tyr)
c.2248G>T (p.Asp750Tyr)
c.2224G>T (p.Asp742Tyr)
c.2131G>T (p.Asp711Tyr)
c.1357G>T (p.Asp453Tyr)
c.1270G>T (p.Asp424Tyr)
c.1183G>T (p.Asp395Tyr)
c.772-1113G>T (n.772-1113G>T)
n.990G>T
17g.46024005A>CCA399984367MAPTc.1073A>C (p.Asp358Ala)
c.986A>C (p.Asp329Ala)
c.1160A>C (p.Asp387Ala)
n.386A>C
n.344A>C
n.578A>C
c.2336A>C (p.Asp779Ala)
c.2045A>C (p.Asp682Ala)
c.980A>C (p.Asp327Ala)
c.1109A>C (p.Asp370Ala)
c.2111A>C (p.Asp704Ala)
c.893A>C (p.Asp298Ala)
c.2165A>C (p.Asp722Ala)
c.1067A>C (p.Asp356Ala)
n.6352A>C
c.2423A>C (p.Asp808Ala)
c.2330A>C (p.Asp777Ala)
c.2249A>C (p.Asp750Ala)
c.2225A>C (p.Asp742Ala)
c.2132A>C (p.Asp711Ala)
c.1358A>C (p.Asp453Ala)
c.1271A>C (p.Asp424Ala)
c.1184A>C (p.Asp395Ala)
c.772-1112A>C (n.772-1112A>C)
n.991A>C
17g.46024005A>GCA399984368MAPTc.1073A>G (p.Asp358Gly)
c.986A>G (p.Asp329Gly)
c.1160A>G (p.Asp387Gly)
n.386A>G
n.344A>G
n.578A>G
c.2336A>G (p.Asp779Gly)
c.2045A>G (p.Asp682Gly)
c.980A>G (p.Asp327Gly)
c.1109A>G (p.Asp370Gly)
c.2111A>G (p.Asp704Gly)
c.893A>G (p.Asp298Gly)
c.2165A>G (p.Asp722Gly)
c.1067A>G (p.Asp356Gly)
n.6352A>G
c.2423A>G (p.Asp808Gly)
c.2330A>G (p.Asp777Gly)
c.2249A>G (p.Asp750Gly)
c.2225A>G (p.Asp742Gly)
c.2132A>G (p.Asp711Gly)
c.1358A>G (p.Asp453Gly)
c.1271A>G (p.Asp424Gly)
c.1184A>G (p.Asp395Gly)
c.772-1112A>G (n.772-1112A>G)
n.991A>G
17g.46024005A>TCA399984369MAPTc.1073A>T (p.Asp358Val)
c.986A>T (p.Asp329Val)
c.1160A>T (p.Asp387Val)
n.386A>T
n.344A>T
n.578A>T
c.2336A>T (p.Asp779Val)
c.2045A>T (p.Asp682Val)
c.980A>T (p.Asp327Val)
c.1109A>T (p.Asp370Val)
c.2111A>T (p.Asp704Val)
c.893A>T (p.Asp298Val)
c.2165A>T (p.Asp722Val)
c.1067A>T (p.Asp356Val)
n.6352A>T
c.2423A>T (p.Asp808Val)
c.2330A>T (p.Asp777Val)
c.2249A>T (p.Asp750Val)
c.2225A>T (p.Asp742Val)
c.2132A>T (p.Asp711Val)
c.1358A>T (p.Asp453Val)
c.1271A>T (p.Asp424Val)
c.1184A>T (p.Asp395Val)
c.772-1112A>T (n.772-1112A>T)
n.991A>T
17g.46024006C>ACA399984370MAPTc.1074C>A (p.Asp358Glu)
c.987C>A (p.Asp329Glu)
c.1161C>A (p.Asp387Glu)
n.387C>A
n.345C>A
n.579C>A
c.2337C>A (p.Asp779Glu)
c.2046C>A (p.Asp682Glu)
c.981C>A (p.Asp327Glu)
c.1110C>A (p.Asp370Glu)
c.2112C>A (p.Asp704Glu)
c.894C>A (p.Asp298Glu)
c.2166C>A (p.Asp722Glu)
c.1068C>A (p.Asp356Glu)
n.6353C>A
c.2424C>A (p.Asp808Glu)
c.2331C>A (p.Asp777Glu)
c.2250C>A (p.Asp750Glu)
c.2226C>A (p.Asp742Glu)
c.2133C>A (p.Asp711Glu)
c.1359C>A (p.Asp453Glu)
c.1272C>A (p.Asp424Glu)
c.1185C>A (p.Asp395Glu)
c.772-1111C>A (n.772-1111C>A)
n.992C>A
17g.46024006C=CA2262106914MAPTc.1074C= (p.Asp358=)
c.987C= (p.Asp329=)
c.1161C= (p.Asp387=)
n.387C=
n.345C=
n.579C=
c.2337C= (p.Asp779=)
c.2046C= (p.Asp682=)
c.981C= (p.Asp327=)
c.1110C= (p.Asp370=)
c.2112C= (p.Asp704=)
c.894C= (p.Asp298=)
c.2166C= (p.Asp722=)
c.1068C= (p.Asp356=)
n.6353C=
c.2424C= (p.Asp808=)
c.2331C= (p.Asp777=)
c.2250C= (p.Asp750=)
c.2226C= (p.Asp742=)
c.2133C= (p.Asp711=)
c.1359C= (p.Asp453=)
c.1272C= (p.Asp424=)
c.1185C= (p.Asp395=)
c.772-1111C= (n.772-1111C=)
n.992C=
17g.46024006C>GCA399984371MAPTc.1074C>G (p.Asp358Glu)
c.987C>G (p.Asp329Glu)
c.1161C>G (p.Asp387Glu)
n.387C>G
n.345C>G
n.579C>G
c.2337C>G (p.Asp779Glu)
c.2046C>G (p.Asp682Glu)
c.981C>G (p.Asp327Glu)
c.1110C>G (p.Asp370Glu)
c.2112C>G (p.Asp704Glu)
c.894C>G (p.Asp298Glu)
c.2166C>G (p.Asp722Glu)
c.1068C>G (p.Asp356Glu)
n.6353C>G
c.2424C>G (p.Asp808Glu)
c.2331C>G (p.Asp777Glu)
c.2250C>G (p.Asp750Glu)
c.2226C>G (p.Asp742Glu)
c.2133C>G (p.Asp711Glu)
c.1359C>G (p.Asp453Glu)
c.1272C>G (p.Asp424Glu)
c.1185C>G (p.Asp395Glu)
c.772-1111C>G (n.772-1111C>G)
n.992C>G
17g.46024006C>TCA8618252MAPTc.1074C>T (p.Asp358=)
c.987C>T (p.Asp329=)
c.1161C>T (p.Asp387=)
n.387C>T
n.345C>T
n.579C>T
c.2337C>T (p.Asp779=)
c.2046C>T (p.Asp682=)
c.981C>T (p.Asp327=)
c.1110C>T (p.Asp370=)
c.2112C>T (p.Asp704=)
c.894C>T (p.Asp298=)
c.2166C>T (p.Asp722=)
c.1068C>T (p.Asp356=)
n.6353C>T
c.2424C>T (p.Asp808=)
c.2331C>T (p.Asp777=)
c.2250C>T (p.Asp750=)
c.2226C>T (p.Asp742=)
c.2133C>T (p.Asp711=)
c.1359C>T (p.Asp453=)
c.1272C>T (p.Asp424=)
c.1185C>T (p.Asp395=)
c.772-1111C>T (n.772-1111C>T)
n.992C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46024007C>ACA399984372MAPTc.1075C>A (p.His359Asn)
c.988C>A (p.His330Asn)
c.1162C>A (p.His388Asn)
n.388C>A
n.346C>A
n.580C>A
c.2338C>A (p.His780Asn)
c.2047C>A (p.His683Asn)
c.982C>A (p.His328Asn)
c.1111C>A (p.His371Asn)
c.2113C>A (p.His705Asn)
c.895C>A (p.His299Asn)
c.2167C>A (p.His723Asn)
c.1069C>A (p.His357Asn)
n.6354C>A
c.2425C>A (p.His809Asn)
c.2332C>A (p.His778Asn)
c.2251C>A (p.His751Asn)
c.2227C>A (p.His743Asn)
c.2134C>A (p.His712Asn)
c.1360C>A (p.His454Asn)
c.1273C>A (p.His425Asn)
c.1186C>A (p.His396Asn)
c.772-1110C>A (n.772-1110C>A)
n.993C>A
17g.46024007C>GCA399984373MAPTc.1075C>G (p.His359Asp)
c.988C>G (p.His330Asp)
c.1162C>G (p.His388Asp)
n.388C>G
n.346C>G
n.580C>G
c.2338C>G (p.His780Asp)
c.2047C>G (p.His683Asp)
c.982C>G (p.His328Asp)
c.1111C>G (p.His371Asp)
c.2113C>G (p.His705Asp)
c.895C>G (p.His299Asp)
c.2167C>G (p.His723Asp)
c.1069C>G (p.His357Asp)
n.6354C>G
c.2425C>G (p.His809Asp)
c.2332C>G (p.His778Asp)
c.2251C>G (p.His751Asp)
c.2227C>G (p.His743Asp)
c.2134C>G (p.His712Asp)
c.1360C>G (p.His454Asp)
c.1273C>G (p.His425Asp)
c.1186C>G (p.His396Asp)
c.772-1110C>G (n.772-1110C>G)
n.993C>G
17g.46024007C>TCA399984374MAPTc.1075C>T (p.His359Tyr)
c.988C>T (p.His330Tyr)
c.1162C>T (p.His388Tyr)
n.388C>T
n.346C>T
n.580C>T
c.2338C>T (p.His780Tyr)
c.2047C>T (p.His683Tyr)
c.982C>T (p.His328Tyr)
c.1111C>T (p.His371Tyr)
c.2113C>T (p.His705Tyr)
c.895C>T (p.His299Tyr)
c.2167C>T (p.His723Tyr)
c.1069C>T (p.His357Tyr)
n.6354C>T
c.2425C>T (p.His809Tyr)
c.2332C>T (p.His778Tyr)
c.2251C>T (p.His751Tyr)
c.2227C>T (p.His743Tyr)
c.2134C>T (p.His712Tyr)
c.1360C>T (p.His454Tyr)
c.1273C>T (p.His425Tyr)
c.1186C>T (p.His396Tyr)
c.772-1110C>T (n.772-1110C>T)
n.993C>T
17g.46024008A>CCA399984375MAPTc.1076A>C (p.His359Pro)
c.989A>C (p.His330Pro)
c.1163A>C (p.His388Pro)
n.389A>C
n.347A>C
n.581A>C
c.2339A>C (p.His780Pro)
c.2048A>C (p.His683Pro)
c.983A>C (p.His328Pro)
c.1112A>C (p.His371Pro)
c.2114A>C (p.His705Pro)
c.896A>C (p.His299Pro)
c.2168A>C (p.His723Pro)
c.1070A>C (p.His357Pro)
n.6355A>C
c.2426A>C (p.His809Pro)
c.2333A>C (p.His778Pro)
c.2252A>C (p.His751Pro)
c.2228A>C (p.His743Pro)
c.2135A>C (p.His712Pro)
c.1361A>C (p.His454Pro)
c.1274A>C (p.His425Pro)
c.1187A>C (p.His396Pro)
c.772-1109A>C (n.772-1109A>C)
n.994A>C
17g.46024008A>GCA399984376MAPTc.1076A>G (p.His359Arg)
c.989A>G (p.His330Arg)
c.1163A>G (p.His388Arg)
n.389A>G
n.347A>G
n.581A>G
c.2339A>G (p.His780Arg)
c.2048A>G (p.His683Arg)
c.983A>G (p.His328Arg)
c.1112A>G (p.His371Arg)
c.2114A>G (p.His705Arg)
c.896A>G (p.His299Arg)
c.2168A>G (p.His723Arg)
c.1070A>G (p.His357Arg)
n.6355A>G
c.2426A>G (p.His809Arg)
c.2333A>G (p.His778Arg)
c.2252A>G (p.His751Arg)
c.2228A>G (p.His743Arg)
c.2135A>G (p.His712Arg)
c.1361A>G (p.His454Arg)
c.1274A>G (p.His425Arg)
c.1187A>G (p.His396Arg)
c.772-1109A>G (n.772-1109A>G)
n.994A>G
17g.46024008A>TCA399984377MAPTc.1076A>T (p.His359Leu)
c.989A>T (p.His330Leu)
c.1163A>T (p.His388Leu)
n.389A>T
n.347A>T
n.581A>T
c.2339A>T (p.His780Leu)
c.2048A>T (p.His683Leu)
c.983A>T (p.His328Leu)
c.1112A>T (p.His371Leu)
c.2114A>T (p.His705Leu)
c.896A>T (p.His299Leu)
c.2168A>T (p.His723Leu)
c.1070A>T (p.His357Leu)
n.6355A>T
c.2426A>T (p.His809Leu)
c.2333A>T (p.His778Leu)
c.2252A>T (p.His751Leu)
c.2228A>T (p.His743Leu)
c.2135A>T (p.His712Leu)
c.1361A>T (p.His454Leu)
c.1274A>T (p.His425Leu)
c.1187A>T (p.His396Leu)
c.772-1109A>T (n.772-1109A>T)
n.994A>T
17g.46024009C>ACA399984378MAPTc.1077C>A (p.His359Gln)
c.990C>A (p.His330Gln)
c.1164C>A (p.His388Gln)
n.390C>A
n.348C>A
n.582C>A
c.2340C>A (p.His780Gln)
c.2049C>A (p.His683Gln)
c.984C>A (p.His328Gln)
c.1113C>A (p.His371Gln)
c.2115C>A (p.His705Gln)
c.897C>A (p.His299Gln)
c.2169C>A (p.His723Gln)
c.1071C>A (p.His357Gln)
n.6356C>A
c.2427C>A (p.His809Gln)
c.2334C>A (p.His778Gln)
c.2253C>A (p.His751Gln)
c.2229C>A (p.His743Gln)
c.2136C>A (p.His712Gln)
c.1362C>A (p.His454Gln)
c.1275C>A (p.His425Gln)
c.1188C>A (p.His396Gln)
c.772-1108C>A (n.772-1108C>A)
n.995C>A
17g.46024009C=CA2262106915MAPTc.1077C= (p.His359=)
c.990C= (p.His330=)
c.1164C= (p.His388=)
n.390C=
n.348C=
n.582C=
c.2340C= (p.His780=)
c.2049C= (p.His683=)
c.984C= (p.His328=)
c.1113C= (p.His371=)
c.2115C= (p.His705=)
c.897C= (p.His299=)
c.2169C= (p.His723=)
c.1071C= (p.His357=)
n.6356C=
c.2427C= (p.His809=)
c.2334C= (p.His778=)
c.2253C= (p.His751=)
c.2229C= (p.His743=)
c.2136C= (p.His712=)
c.1362C= (p.His454=)
c.1275C= (p.His425=)
c.1188C= (p.His396=)
c.772-1108C= (n.772-1108C=)
n.995C=
17g.46024009C>GCA399984379MAPTc.1077C>G (p.His359Gln)
c.990C>G (p.His330Gln)
c.1164C>G (p.His388Gln)
n.390C>G
n.348C>G
n.582C>G
c.2340C>G (p.His780Gln)
c.2049C>G (p.His683Gln)
c.984C>G (p.His328Gln)
c.1113C>G (p.His371Gln)
c.2115C>G (p.His705Gln)
c.897C>G (p.His299Gln)
c.2169C>G (p.His723Gln)
c.1071C>G (p.His357Gln)
n.6356C>G
c.2427C>G (p.His809Gln)
c.2334C>G (p.His778Gln)
c.2253C>G (p.His751Gln)
c.2229C>G (p.His743Gln)
c.2136C>G (p.His712Gln)
c.1362C>G (p.His454Gln)
c.1275C>G (p.His425Gln)
c.1188C>G (p.His396Gln)
c.772-1108C>G (n.772-1108C>G)
n.995C>G
17g.46024009C>TCA8618253MAPTc.1077C>T (p.His359=)
c.990C>T (p.His330=)
c.1164C>T (p.His388=)
n.390C>T
n.348C>T
n.582C>T
c.2340C>T (p.His780=)
c.2049C>T (p.His683=)
c.984C>T (p.His328=)
c.1113C>T (p.His371=)
c.2115C>T (p.His705=)
c.897C>T (p.His299=)
c.2169C>T (p.His723=)
c.1071C>T (p.His357=)
n.6356C>T
c.2427C>T (p.His809=)
c.2334C>T (p.His778=)
c.2253C>T (p.His751=)
c.2229C>T (p.His743=)
c.2136C>T (p.His712=)
c.1362C>T (p.His454=)
c.1275C>T (p.His425=)
c.1188C>T (p.His396=)
c.772-1108C>T (n.772-1108C>T)
n.995C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024011_46024022delCA2695226186MAPTc.1079_1090del (p.Gly360_Ile363del)
c.992_1003del (p.Gly331_Ile334del)
c.1166_1177del (p.Gly389_Ile392del)
n.392_403del
n.350_361del
n.584_595del
c.2342_2353del (p.Gly781_Ile784del)
c.2051_2062del (p.Gly684_Ile687del)
c.986_997del (p.Gly329_Ile332del)
c.1115_1126del (p.Gly372_Ile375del)
c.2117_2128del (p.Gly706_Ile709del)
c.899_910del (p.Gly300_Ile303del)
c.2171_2182del (p.Gly724_Ile727del)
c.1073_1084del (p.Gly358_Ile361del)
n.6358_6369del
c.2429_2440del (p.Gly810_Ile813del)
c.2336_2347del (p.Gly779_Ile782del)
c.2255_2266del (p.Gly752_Ile755del)
c.2231_2242del (p.Gly744_Ile747del)
c.2138_2149del (p.Gly713_Ile716del)
c.1364_1375del (p.Gly455_Ile458del)
c.1277_1288del (p.Gly426_Ile429del)
c.1190_1201del (p.Gly397_Ile400del)
c.772-1106_772-1095del (n.772-1106_772-1095del)
n.997_1008del
17g.46024010G>ACA257189MAPTc.1078G>A (p.Gly360Arg)
c.991G>A (p.Gly331Arg)
c.1165G>A (p.Gly389Arg)
n.391G>A
n.349G>A
n.583G>A
c.2341G>A (p.Gly781Arg)
c.2050G>A (p.Gly684Arg)
c.985G>A (p.Gly329Arg)
c.1114G>A (p.Gly372Arg)
c.2116G>A (p.Gly706Arg)
c.898G>A (p.Gly300Arg)
c.2170G>A (p.Gly724Arg)
c.1072G>A (p.Gly358Arg)
n.6357G>A
c.2428G>A (p.Gly810Arg)
c.2335G>A (p.Gly779Arg)
c.2254G>A (p.Gly752Arg)
c.2230G>A (p.Gly744Arg)
c.2137G>A (p.Gly713Arg)
c.1363G>A (p.Gly455Arg)
c.1276G>A (p.Gly426Arg)
c.1189G>A (p.Gly397Arg)
c.772-1107G>A (n.772-1107G>A)
n.996G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024010G>CCA225494MAPTc.1078G>C (p.Gly360Arg)
c.991G>C (p.Gly331Arg)
c.1165G>C (p.Gly389Arg)
n.391G>C
n.349G>C
n.583G>C
c.2341G>C (p.Gly781Arg)
c.2050G>C (p.Gly684Arg)
c.985G>C (p.Gly329Arg)
c.1114G>C (p.Gly372Arg)
c.2116G>C (p.Gly706Arg)
c.898G>C (p.Gly300Arg)
c.2170G>C (p.Gly724Arg)
c.1072G>C (p.Gly358Arg)
n.6357G>C
c.2428G>C (p.Gly810Arg)
c.2335G>C (p.Gly779Arg)
c.2254G>C (p.Gly752Arg)
c.2230G>C (p.Gly744Arg)
c.2137G>C (p.Gly713Arg)
c.1363G>C (p.Gly455Arg)
c.1276G>C (p.Gly426Arg)
c.1189G>C (p.Gly397Arg)
c.772-1107G>C (n.772-1107G>C)
n.996G>C
 ClinVar dbSNP
17g.46024010G=CA2262106916MAPTc.1078G= (p.Gly360=)
c.991G= (p.Gly331=)
c.1165G= (p.Gly389=)
n.391G=
n.349G=
n.583G=
c.2341G= (p.Gly781=)
c.2050G= (p.Gly684=)
c.985G= (p.Gly329=)
c.1114G= (p.Gly372=)
c.2116G= (p.Gly706=)
c.898G= (p.Gly300=)
c.2170G= (p.Gly724=)
c.1072G= (p.Gly358=)
n.6357G=
c.2428G= (p.Gly810=)
c.2335G= (p.Gly779=)
c.2254G= (p.Gly752=)
c.2230G= (p.Gly744=)
c.2137G= (p.Gly713=)
c.1363G= (p.Gly455=)
c.1276G= (p.Gly426=)
c.1189G= (p.Gly397=)
c.772-1107G= (n.772-1107G=)
n.996G=
17g.46024010G>TCA399984380MAPTc.1078G>T (p.Gly360Trp)
c.991G>T (p.Gly331Trp)
c.1165G>T (p.Gly389Trp)
n.391G>T
n.349G>T
n.583G>T
c.2341G>T (p.Gly781Trp)
c.2050G>T (p.Gly684Trp)
c.985G>T (p.Gly329Trp)
c.1114G>T (p.Gly372Trp)
c.2116G>T (p.Gly706Trp)
c.898G>T (p.Gly300Trp)
c.2170G>T (p.Gly724Trp)
c.1072G>T (p.Gly358Trp)
n.6357G>T
c.2428G>T (p.Gly810Trp)
c.2335G>T (p.Gly779Trp)
c.2254G>T (p.Gly752Trp)
c.2230G>T (p.Gly744Trp)
c.2137G>T (p.Gly713Trp)
c.1363G>T (p.Gly455Trp)
c.1276G>T (p.Gly426Trp)
c.1189G>T (p.Gly397Trp)
c.772-1107G>T (n.772-1107G>T)
n.996G>T
17g.46024011G>ACA399984381MAPTc.1079G>A (p.Gly360Glu)
c.992G>A (p.Gly331Glu)
c.1166G>A (p.Gly389Glu)
n.392G>A
n.350G>A
n.584G>A
c.2342G>A (p.Gly781Glu)
c.2051G>A (p.Gly684Glu)
c.986G>A (p.Gly329Glu)
c.1115G>A (p.Gly372Glu)
c.2117G>A (p.Gly706Glu)
c.899G>A (p.Gly300Glu)
c.2171G>A (p.Gly724Glu)
c.1073G>A (p.Gly358Glu)
n.6358G>A
c.2429G>A (p.Gly810Glu)
c.2336G>A (p.Gly779Glu)
c.2255G>A (p.Gly752Glu)
c.2231G>A (p.Gly744Glu)
c.2138G>A (p.Gly713Glu)
c.1364G>A (p.Gly455Glu)
c.1277G>A (p.Gly426Glu)
c.1190G>A (p.Gly397Glu)
c.772-1106G>A (n.772-1106G>A)
n.997G>A
17g.46024011G>CCA399984382MAPTc.1079G>C (p.Gly360Ala)
c.992G>C (p.Gly331Ala)
c.1166G>C (p.Gly389Ala)
n.392G>C
n.350G>C
n.584G>C
c.2342G>C (p.Gly781Ala)
c.2051G>C (p.Gly684Ala)
c.986G>C (p.Gly329Ala)
c.1115G>C (p.Gly372Ala)
c.2117G>C (p.Gly706Ala)
c.899G>C (p.Gly300Ala)
c.2171G>C (p.Gly724Ala)
c.1073G>C (p.Gly358Ala)
n.6358G>C
c.2429G>C (p.Gly810Ala)
c.2336G>C (p.Gly779Ala)
c.2255G>C (p.Gly752Ala)
c.2231G>C (p.Gly744Ala)
c.2138G>C (p.Gly713Ala)
c.1364G>C (p.Gly455Ala)
c.1277G>C (p.Gly426Ala)
c.1190G>C (p.Gly397Ala)
c.772-1106G>C (n.772-1106G>C)
n.997G>C
17g.46024011G>TCA399984383MAPTc.1079G>T (p.Gly360Val)
c.992G>T (p.Gly331Val)
c.1166G>T (p.Gly389Val)
n.392G>T
n.350G>T
n.584G>T
c.2342G>T (p.Gly781Val)
c.2051G>T (p.Gly684Val)
c.986G>T (p.Gly329Val)
c.1115G>T (p.Gly372Val)
c.2117G>T (p.Gly706Val)
c.899G>T (p.Gly300Val)
c.2171G>T (p.Gly724Val)
c.1073G>T (p.Gly358Val)
n.6358G>T
c.2429G>T (p.Gly810Val)
c.2336G>T (p.Gly779Val)
c.2255G>T (p.Gly752Val)
c.2231G>T (p.Gly744Val)
c.2138G>T (p.Gly713Val)
c.1364G>T (p.Gly455Val)
c.1277G>T (p.Gly426Val)
c.1190G>T (p.Gly397Val)
c.772-1106G>T (n.772-1106G>T)
n.997G>T
17g.46024012G>ACA500371426MAPTc.1080G>A (p.Gly360=)
c.993G>A (p.Gly331=)
c.1167G>A (p.Gly389=)
n.393G>A
n.351G>A
n.585G>A
c.2343G>A (p.Gly781=)
c.2052G>A (p.Gly684=)
c.987G>A (p.Gly329=)
c.1116G>A (p.Gly372=)
c.2118G>A (p.Gly706=)
c.900G>A (p.Gly300=)
c.2172G>A (p.Gly724=)
c.1074G>A (p.Gly358=)
n.6359G>A
c.2430G>A (p.Gly810=)
c.2337G>A (p.Gly779=)
c.2256G>A (p.Gly752=)
c.2232G>A (p.Gly744=)
c.2139G>A (p.Gly713=)
c.1365G>A (p.Gly455=)
c.1278G>A (p.Gly426=)
c.1191G>A (p.Gly397=)
c.772-1105G>A (n.772-1105G>A)
n.998G>A
 gnomAD v4
17g.46024012G>CCA500371428MAPTc.1080G>C (p.Gly360=)
c.993G>C (p.Gly331=)
c.1167G>C (p.Gly389=)
n.393G>C
n.351G>C
n.585G>C
c.2343G>C (p.Gly781=)
c.2052G>C (p.Gly684=)
c.987G>C (p.Gly329=)
c.1116G>C (p.Gly372=)
c.2118G>C (p.Gly706=)
c.900G>C (p.Gly300=)
c.2172G>C (p.Gly724=)
c.1074G>C (p.Gly358=)
n.6359G>C
c.2430G>C (p.Gly810=)
c.2337G>C (p.Gly779=)
c.2256G>C (p.Gly752=)
c.2232G>C (p.Gly744=)
c.2139G>C (p.Gly713=)
c.1365G>C (p.Gly455=)
c.1278G>C (p.Gly426=)
c.1191G>C (p.Gly397=)
c.772-1105G>C (n.772-1105G>C)
n.998G>C
 dbSNP
17g.46024012G=CA2262106917MAPTc.1080G= (p.Gly360=)
c.993G= (p.Gly331=)
c.1167G= (p.Gly389=)
n.393G=
n.351G=
n.585G=
c.2343G= (p.Gly781=)
c.2052G= (p.Gly684=)
c.987G= (p.Gly329=)
c.1116G= (p.Gly372=)
c.2118G= (p.Gly706=)
c.900G= (p.Gly300=)
c.2172G= (p.Gly724=)
c.1074G= (p.Gly358=)
n.6359G=
c.2430G= (p.Gly810=)
c.2337G= (p.Gly779=)
c.2256G= (p.Gly752=)
c.2232G= (p.Gly744=)
c.2139G= (p.Gly713=)
c.1365G= (p.Gly455=)
c.1278G= (p.Gly426=)
c.1191G= (p.Gly397=)
c.772-1105G= (n.772-1105G=)
n.998G=
17g.46024012G>TCA500371424MAPTc.1080G>T (p.Gly360=)
c.993G>T (p.Gly331=)
c.1167G>T (p.Gly389=)
n.393G>T
n.351G>T
n.585G>T
c.2343G>T (p.Gly781=)
c.2052G>T (p.Gly684=)
c.987G>T (p.Gly329=)
c.1116G>T (p.Gly372=)
c.2118G>T (p.Gly706=)
c.900G>T (p.Gly300=)
c.2172G>T (p.Gly724=)
c.1074G>T (p.Gly358=)
n.6359G>T
c.2430G>T (p.Gly810=)
c.2337G>T (p.Gly779=)
c.2256G>T (p.Gly752=)
c.2232G>T (p.Gly744=)
c.2139G>T (p.Gly713=)
c.1365G>T (p.Gly455=)
c.1278G>T (p.Gly426=)
c.1191G>T (p.Gly397=)
c.772-1105G>T (n.772-1105G>T)
n.998G>T
17g.46024013G>ACA399984384MAPTc.1081G>A (p.Ala361Thr)
c.994G>A (p.Ala332Thr)
c.1168G>A (p.Ala390Thr)
n.394G>A
n.352G>A
n.586G>A
c.2344G>A (p.Ala782Thr)
c.2053G>A (p.Ala685Thr)
c.988G>A (p.Ala330Thr)
c.1117G>A (p.Ala373Thr)
c.2119G>A (p.Ala707Thr)
c.901G>A (p.Ala301Thr)
c.2173G>A (p.Ala725Thr)
c.1075G>A (p.Ala359Thr)
n.6360G>A
c.2431G>A (p.Ala811Thr)
c.2338G>A (p.Ala780Thr)
c.2257G>A (p.Ala753Thr)
c.2233G>A (p.Ala745Thr)
c.2140G>A (p.Ala714Thr)
c.1366G>A (p.Ala456Thr)
c.1279G>A (p.Ala427Thr)
c.1192G>A (p.Ala398Thr)
c.772-1104G>A (n.772-1104G>A)
n.999G>A
 ClinVar dbSNP
17g.46024013G>CCA399984385MAPTc.1081G>C (p.Ala361Pro)
c.994G>C (p.Ala332Pro)
c.1168G>C (p.Ala390Pro)
n.394G>C
n.352G>C
n.586G>C
c.2344G>C (p.Ala782Pro)
c.2053G>C (p.Ala685Pro)
c.988G>C (p.Ala330Pro)
c.1117G>C (p.Ala373Pro)
c.2119G>C (p.Ala707Pro)
c.901G>C (p.Ala301Pro)
c.2173G>C (p.Ala725Pro)
c.1075G>C (p.Ala359Pro)
n.6360G>C
c.2431G>C (p.Ala811Pro)
c.2338G>C (p.Ala780Pro)
c.2257G>C (p.Ala753Pro)
c.2233G>C (p.Ala745Pro)
c.2140G>C (p.Ala714Pro)
c.1366G>C (p.Ala456Pro)
c.1279G>C (p.Ala427Pro)
c.1192G>C (p.Ala398Pro)
c.772-1104G>C (n.772-1104G>C)
n.999G>C
17g.46024013G>TCA399984386MAPTc.1081G>T (p.Ala361Ser)
c.994G>T (p.Ala332Ser)
c.1168G>T (p.Ala390Ser)
n.394G>T
n.352G>T
n.586G>T
c.2344G>T (p.Ala782Ser)
c.2053G>T (p.Ala685Ser)
c.988G>T (p.Ala330Ser)
c.1117G>T (p.Ala373Ser)
c.2119G>T (p.Ala707Ser)
c.901G>T (p.Ala301Ser)
c.2173G>T (p.Ala725Ser)
c.1075G>T (p.Ala359Ser)
n.6360G>T
c.2431G>T (p.Ala811Ser)
c.2338G>T (p.Ala780Ser)
c.2257G>T (p.Ala753Ser)
c.2233G>T (p.Ala745Ser)
c.2140G>T (p.Ala714Ser)
c.1366G>T (p.Ala456Ser)
c.1279G>T (p.Ala427Ser)
c.1192G>T (p.Ala398Ser)
c.772-1104G>T (n.772-1104G>T)
n.999G>T
17g.46024014C>ACA399984388MAPTc.1082C>A (p.Ala361Glu)
c.995C>A (p.Ala332Glu)
c.1169C>A (p.Ala390Glu)
n.395C>A
n.353C>A
n.587C>A
c.2345C>A (p.Ala782Glu)
c.2054C>A (p.Ala685Glu)
c.989C>A (p.Ala330Glu)
c.1118C>A (p.Ala373Glu)
c.2120C>A (p.Ala707Glu)
c.902C>A (p.Ala301Glu)
c.2174C>A (p.Ala725Glu)
c.1076C>A (p.Ala359Glu)
n.6361C>A
c.2432C>A (p.Ala811Glu)
c.2339C>A (p.Ala780Glu)
c.2258C>A (p.Ala753Glu)
c.2234C>A (p.Ala745Glu)
c.2141C>A (p.Ala714Glu)
c.1367C>A (p.Ala456Glu)
c.1280C>A (p.Ala427Glu)
c.1193C>A (p.Ala398Glu)
c.772-1103C>A (n.772-1103C>A)
n.1000C>A
17g.46024014C=CA2262106918MAPTc.1082C= (p.Ala361=)
c.995C= (p.Ala332=)
c.1169C= (p.Ala390=)
n.395C=
n.353C=
n.587C=
c.2345C= (p.Ala782=)
c.2054C= (p.Ala685=)
c.989C= (p.Ala330=)
c.1118C= (p.Ala373=)
c.2120C= (p.Ala707=)
c.902C= (p.Ala301=)
c.2174C= (p.Ala725=)
c.1076C= (p.Ala359=)
n.6361C=
c.2432C= (p.Ala811=)
c.2339C= (p.Ala780=)
c.2258C= (p.Ala753=)
c.2234C= (p.Ala745=)
c.2141C= (p.Ala714=)
c.1367C= (p.Ala456=)
c.1280C= (p.Ala427=)
c.1193C= (p.Ala398=)
c.772-1103C= (n.772-1103C=)
n.1000C=
17g.46024014C>GCA399984387MAPTc.1082C>G (p.Ala361Gly)
c.995C>G (p.Ala332Gly)
c.1169C>G (p.Ala390Gly)
n.395C>G
n.353C>G
n.587C>G
c.2345C>G (p.Ala782Gly)
c.2054C>G (p.Ala685Gly)
c.989C>G (p.Ala330Gly)
c.1118C>G (p.Ala373Gly)
c.2120C>G (p.Ala707Gly)
c.902C>G (p.Ala301Gly)
c.2174C>G (p.Ala725Gly)
c.1076C>G (p.Ala359Gly)
n.6361C>G
c.2432C>G (p.Ala811Gly)
c.2339C>G (p.Ala780Gly)
c.2258C>G (p.Ala753Gly)
c.2234C>G (p.Ala745Gly)
c.2141C>G (p.Ala714Gly)
c.1367C>G (p.Ala456Gly)
c.1280C>G (p.Ala427Gly)
c.1193C>G (p.Ala398Gly)
c.772-1103C>G (n.772-1103C>G)
n.1000C>G
17g.46024014C>TCA8618254MAPTc.1082C>T (p.Ala361Val)
c.995C>T (p.Ala332Val)
c.1169C>T (p.Ala390Val)
n.395C>T
n.353C>T
n.587C>T
c.2345C>T (p.Ala782Val)
c.2054C>T (p.Ala685Val)
c.989C>T (p.Ala330Val)
c.1118C>T (p.Ala373Val)
c.2120C>T (p.Ala707Val)
c.902C>T (p.Ala301Val)
c.2174C>T (p.Ala725Val)
c.1076C>T (p.Ala359Val)
n.6361C>T
c.2432C>T (p.Ala811Val)
c.2339C>T (p.Ala780Val)
c.2258C>T (p.Ala753Val)
c.2234C>T (p.Ala745Val)
c.2141C>T (p.Ala714Val)
c.1367C>T (p.Ala456Val)
c.1280C>T (p.Ala427Val)
c.1193C>T (p.Ala398Val)
c.772-1103C>T (n.772-1103C>T)
n.1000C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46024015G>ACA8618255MAPTc.1083G>A (p.Ala361=)
c.996G>A (p.Ala332=)
c.1170G>A (p.Ala390=)
n.396G>A
n.354G>A
n.588G>A
c.2346G>A (p.Ala782=)
c.2055G>A (p.Ala685=)
c.990G>A (p.Ala330=)
c.1119G>A (p.Ala373=)
c.2121G>A (p.Ala707=)
c.903G>A (p.Ala301=)
c.2175G>A (p.Ala725=)
c.1077G>A (p.Ala359=)
n.6362G>A
c.2433G>A (p.Ala811=)
c.2340G>A (p.Ala780=)
c.2259G>A (p.Ala753=)
c.2235G>A (p.Ala745=)
c.2142G>A (p.Ala714=)
c.1368G>A (p.Ala456=)
c.1281G>A (p.Ala427=)
c.1194G>A (p.Ala398=)
c.772-1102G>A (n.772-1102G>A)
n.1001G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024015G>CCA500371431MAPTc.1083G>C (p.Ala361=)
c.996G>C (p.Ala332=)
c.1170G>C (p.Ala390=)
n.396G>C
n.354G>C
n.588G>C
c.2346G>C (p.Ala782=)
c.2055G>C (p.Ala685=)
c.990G>C (p.Ala330=)
c.1119G>C (p.Ala373=)
c.2121G>C (p.Ala707=)
c.903G>C (p.Ala301=)
c.2175G>C (p.Ala725=)
c.1077G>C (p.Ala359=)
n.6362G>C
c.2433G>C (p.Ala811=)
c.2340G>C (p.Ala780=)
c.2259G>C (p.Ala753=)
c.2235G>C (p.Ala745=)
c.2142G>C (p.Ala714=)
c.1368G>C (p.Ala456=)
c.1281G>C (p.Ala427=)
c.1194G>C (p.Ala398=)
c.772-1102G>C (n.772-1102G>C)
n.1001G>C
17g.46024015G=CA2262106919MAPTc.1083G= (p.Ala361=)
c.996G= (p.Ala332=)
c.1170G= (p.Ala390=)
n.396G=
n.354G=
n.588G=
c.2346G= (p.Ala782=)
c.2055G= (p.Ala685=)
c.990G= (p.Ala330=)
c.1119G= (p.Ala373=)
c.2121G= (p.Ala707=)
c.903G= (p.Ala301=)
c.2175G= (p.Ala725=)
c.1077G= (p.Ala359=)
n.6362G=
c.2433G= (p.Ala811=)
c.2340G= (p.Ala780=)
c.2259G= (p.Ala753=)
c.2235G= (p.Ala745=)
c.2142G= (p.Ala714=)
c.1368G= (p.Ala456=)
c.1281G= (p.Ala427=)
c.1194G= (p.Ala398=)
c.772-1102G= (n.772-1102G=)
n.1001G=
17g.46024015G>TCA500371430MAPTc.1083G>T (p.Ala361=)
c.996G>T (p.Ala332=)
c.1170G>T (p.Ala390=)
n.396G>T
n.354G>T
n.588G>T
c.2346G>T (p.Ala782=)
c.2055G>T (p.Ala685=)
c.990G>T (p.Ala330=)
c.1119G>T (p.Ala373=)
c.2121G>T (p.Ala707=)
c.903G>T (p.Ala301=)
c.2175G>T (p.Ala725=)
c.1077G>T (p.Ala359=)
n.6362G>T
c.2433G>T (p.Ala811=)
c.2340G>T (p.Ala780=)
c.2259G>T (p.Ala753=)
c.2235G>T (p.Ala745=)
c.2142G>T (p.Ala714=)
c.1368G>T (p.Ala456=)
c.1281G>T (p.Ala427=)
c.1194G>T (p.Ala398=)
c.772-1102G>T (n.772-1102G>T)
n.1001G>T
17g.46024016G>ACA399984389MAPTc.1084G>A (p.Glu362Lys)
c.997G>A (p.Glu333Lys)
c.1171G>A (p.Glu391Lys)
n.397G>A
n.355G>A
n.589G>A
c.2347G>A (p.Glu783Lys)
c.2056G>A (p.Glu686Lys)
c.991G>A (p.Glu331Lys)
c.1120G>A (p.Glu374Lys)
c.2122G>A (p.Glu708Lys)
c.904G>A (p.Glu302Lys)
c.2176G>A (p.Glu726Lys)
c.1078G>A (p.Glu360Lys)
n.6363G>A
c.2434G>A (p.Glu812Lys)
c.2341G>A (p.Glu781Lys)
c.2260G>A (p.Glu754Lys)
c.2236G>A (p.Glu746Lys)
c.2143G>A (p.Glu715Lys)
c.1369G>A (p.Glu457Lys)
c.1282G>A (p.Glu428Lys)
c.1195G>A (p.Glu399Lys)
c.772-1101G>A (n.772-1101G>A)
n.1002G>A
 COSMIC COSMIC
17g.46024016G>CCA399984390MAPTc.1084G>C (p.Glu362Gln)
c.997G>C (p.Glu333Gln)
c.1171G>C (p.Glu391Gln)
n.397G>C
n.355G>C
n.589G>C
c.2347G>C (p.Glu783Gln)
c.2056G>C (p.Glu686Gln)
c.991G>C (p.Glu331Gln)
c.1120G>C (p.Glu374Gln)
c.2122G>C (p.Glu708Gln)
c.904G>C (p.Glu302Gln)
c.2176G>C (p.Glu726Gln)
c.1078G>C (p.Glu360Gln)
n.6363G>C
c.2434G>C (p.Glu812Gln)
c.2341G>C (p.Glu781Gln)
c.2260G>C (p.Glu754Gln)
c.2236G>C (p.Glu746Gln)
c.2143G>C (p.Glu715Gln)
c.1369G>C (p.Glu457Gln)
c.1282G>C (p.Glu428Gln)
c.1195G>C (p.Glu399Gln)
c.772-1101G>C (n.772-1101G>C)
n.1002G>C
17g.46024016G>TCA399984391MAPTc.1084G>T (p.Glu362Ter)
c.997G>T (p.Glu333Ter)
c.1171G>T (p.Glu391Ter)
n.397G>T
n.355G>T
n.589G>T
c.2347G>T (p.Glu783Ter)
c.2056G>T (p.Glu686Ter)
c.991G>T (p.Glu331Ter)
c.1120G>T (p.Glu374Ter)
c.2122G>T (p.Glu708Ter)
c.904G>T (p.Glu302Ter)
c.2176G>T (p.Glu726Ter)
c.1078G>T (p.Glu360Ter)
n.6363G>T
c.2434G>T (p.Glu812Ter)
c.2341G>T (p.Glu781Ter)
c.2260G>T (p.Glu754Ter)
c.2236G>T (p.Glu746Ter)
c.2143G>T (p.Glu715Ter)
c.1369G>T (p.Glu457Ter)
c.1282G>T (p.Glu428Ter)
c.1195G>T (p.Glu399Ter)
c.772-1101G>T (n.772-1101G>T)
n.1002G>T
17g.46024017A>CCA399984392MAPTc.1085A>C (p.Glu362Ala)
c.998A>C (p.Glu333Ala)
c.1172A>C (p.Glu391Ala)
n.398A>C
n.356A>C
n.590A>C
c.2348A>C (p.Glu783Ala)
c.2057A>C (p.Glu686Ala)
c.992A>C (p.Glu331Ala)
c.1121A>C (p.Glu374Ala)
c.2123A>C (p.Glu708Ala)
c.905A>C (p.Glu302Ala)
c.2177A>C (p.Glu726Ala)
c.1079A>C (p.Glu360Ala)
n.6364A>C
c.2435A>C (p.Glu812Ala)
c.2342A>C (p.Glu781Ala)
c.2261A>C (p.Glu754Ala)
c.2237A>C (p.Glu746Ala)
c.2144A>C (p.Glu715Ala)
c.1370A>C (p.Glu457Ala)
c.1283A>C (p.Glu428Ala)
c.1196A>C (p.Glu399Ala)
c.772-1100A>C (n.772-1100A>C)
n.1003A>C
17g.46024017A>GCA399984393MAPTc.1085A>G (p.Glu362Gly)
c.998A>G (p.Glu333Gly)
c.1172A>G (p.Glu391Gly)
n.398A>G
n.356A>G
n.590A>G
c.2348A>G (p.Glu783Gly)
c.2057A>G (p.Glu686Gly)
c.992A>G (p.Glu331Gly)
c.1121A>G (p.Glu374Gly)
c.2123A>G (p.Glu708Gly)
c.905A>G (p.Glu302Gly)
c.2177A>G (p.Glu726Gly)
c.1079A>G (p.Glu360Gly)
n.6364A>G
c.2435A>G (p.Glu812Gly)
c.2342A>G (p.Glu781Gly)
c.2261A>G (p.Glu754Gly)
c.2237A>G (p.Glu746Gly)
c.2144A>G (p.Glu715Gly)
c.1370A>G (p.Glu457Gly)
c.1283A>G (p.Glu428Gly)
c.1196A>G (p.Glu399Gly)
c.772-1100A>G (n.772-1100A>G)
n.1003A>G
17g.46024017A>TCA399984394MAPTc.1085A>T (p.Glu362Val)
c.998A>T (p.Glu333Val)
c.1172A>T (p.Glu391Val)
n.398A>T
n.356A>T
n.590A>T
c.2348A>T (p.Glu783Val)
c.2057A>T (p.Glu686Val)
c.992A>T (p.Glu331Val)
c.1121A>T (p.Glu374Val)
c.2123A>T (p.Glu708Val)
c.905A>T (p.Glu302Val)
c.2177A>T (p.Glu726Val)
c.1079A>T (p.Glu360Val)
n.6364A>T
c.2435A>T (p.Glu812Val)
c.2342A>T (p.Glu781Val)
c.2261A>T (p.Glu754Val)
c.2237A>T (p.Glu746Val)
c.2144A>T (p.Glu715Val)
c.1370A>T (p.Glu457Val)
c.1283A>T (p.Glu428Val)
c.1196A>T (p.Glu399Val)
c.772-1100A>T (n.772-1100A>T)
n.1003A>T
17g.46024018G>ACA8618256MAPTc.1086G>A (p.Glu362=)
c.999G>A (p.Glu333=)
c.1173G>A (p.Glu391=)
n.399G>A
n.357G>A
n.591G>A
c.2349G>A (p.Glu783=)
c.2058G>A (p.Glu686=)
c.993G>A (p.Glu331=)
c.1122G>A (p.Glu374=)
c.2124G>A (p.Glu708=)
c.906G>A (p.Glu302=)
c.2178G>A (p.Glu726=)
c.1080G>A (p.Glu360=)
n.6365G>A
c.2436G>A (p.Glu812=)
c.2343G>A (p.Glu781=)
c.2262G>A (p.Glu754=)
c.2238G>A (p.Glu746=)
c.2145G>A (p.Glu715=)
c.1371G>A (p.Glu457=)
c.1284G>A (p.Glu428=)
c.1197G>A (p.Glu399=)
c.772-1099G>A (n.772-1099G>A)
n.1004G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024018G>CCA399984395MAPTc.1086G>C (p.Glu362Asp)
c.999G>C (p.Glu333Asp)
c.1173G>C (p.Glu391Asp)
n.399G>C
n.357G>C
n.591G>C
c.2349G>C (p.Glu783Asp)
c.2058G>C (p.Glu686Asp)
c.993G>C (p.Glu331Asp)
c.1122G>C (p.Glu374Asp)
c.2124G>C (p.Glu708Asp)
c.906G>C (p.Glu302Asp)
c.2178G>C (p.Glu726Asp)
c.1080G>C (p.Glu360Asp)
n.6365G>C
c.2436G>C (p.Glu812Asp)
c.2343G>C (p.Glu781Asp)
c.2262G>C (p.Glu754Asp)
c.2238G>C (p.Glu746Asp)
c.2145G>C (p.Glu715Asp)
c.1371G>C (p.Glu457Asp)
c.1284G>C (p.Glu428Asp)
c.1197G>C (p.Glu399Asp)
c.772-1099G>C (n.772-1099G>C)
n.1004G>C
17g.46024018G=CA2262106920MAPTc.1086G= (p.Glu362=)
c.999G= (p.Glu333=)
c.1173G= (p.Glu391=)
n.399G=
n.357G=
n.591G=
c.2349G= (p.Glu783=)
c.2058G= (p.Glu686=)
c.993G= (p.Glu331=)
c.1122G= (p.Glu374=)
c.2124G= (p.Glu708=)
c.906G= (p.Glu302=)
c.2178G= (p.Glu726=)
c.1080G= (p.Glu360=)
n.6365G=
c.2436G= (p.Glu812=)
c.2343G= (p.Glu781=)
c.2262G= (p.Glu754=)
c.2238G= (p.Glu746=)
c.2145G= (p.Glu715=)
c.1371G= (p.Glu457=)
c.1284G= (p.Glu428=)
c.1197G= (p.Glu399=)
c.772-1099G= (n.772-1099G=)
n.1004G=
17g.46024018G>TCA399984396MAPTc.1086G>T (p.Glu362Asp)
c.999G>T (p.Glu333Asp)
c.1173G>T (p.Glu391Asp)
n.399G>T
n.357G>T
n.591G>T
c.2349G>T (p.Glu783Asp)
c.2058G>T (p.Glu686Asp)
c.993G>T (p.Glu331Asp)
c.1122G>T (p.Glu374Asp)
c.2124G>T (p.Glu708Asp)
c.906G>T (p.Glu302Asp)
c.2178G>T (p.Glu726Asp)
c.1080G>T (p.Glu360Asp)
n.6365G>T
c.2436G>T (p.Glu812Asp)
c.2343G>T (p.Glu781Asp)
c.2262G>T (p.Glu754Asp)
c.2238G>T (p.Glu746Asp)
c.2145G>T (p.Glu715Asp)
c.1371G>T (p.Glu457Asp)
c.1284G>T (p.Glu428Asp)
c.1197G>T (p.Glu399Asp)
c.772-1099G>T (n.772-1099G>T)
n.1004G>T
 dbSNP gnomAD v2
17g.46024019A=CA2262106921MAPTc.1087A= (p.Ile363=)
c.1000A= (p.Ile334=)
c.1174A= (p.Ile392=)
n.400A=
n.358A=
n.592A=
c.2350A= (p.Ile784=)
c.2059A= (p.Ile687=)
c.994A= (p.Ile332=)
c.1123A= (p.Ile375=)
c.2125A= (p.Ile709=)
c.907A= (p.Ile303=)
c.2179A= (p.Ile727=)
c.1081A= (p.Ile361=)
n.6366A=
c.2437A= (p.Ile813=)
c.2344A= (p.Ile782=)
c.2263A= (p.Ile755=)
c.2239A= (p.Ile747=)
c.2146A= (p.Ile716=)
c.1372A= (p.Ile458=)
c.1285A= (p.Ile429=)
c.1198A= (p.Ile400=)
c.772-1098A= (n.772-1098A=)
n.1005A=
17g.46024019A>CCA399984397MAPTc.1087A>C (p.Ile363Leu)
c.1000A>C (p.Ile334Leu)
c.1174A>C (p.Ile392Leu)
n.400A>C
n.358A>C
n.592A>C
c.2350A>C (p.Ile784Leu)
c.2059A>C (p.Ile687Leu)
c.994A>C (p.Ile332Leu)
c.1123A>C (p.Ile375Leu)
c.2125A>C (p.Ile709Leu)
c.907A>C (p.Ile303Leu)
c.2179A>C (p.Ile727Leu)
c.1081A>C (p.Ile361Leu)
n.6366A>C
c.2437A>C (p.Ile813Leu)
c.2344A>C (p.Ile782Leu)
c.2263A>C (p.Ile755Leu)
c.2239A>C (p.Ile747Leu)
c.2146A>C (p.Ile716Leu)
c.1372A>C (p.Ile458Leu)
c.1285A>C (p.Ile429Leu)
c.1198A>C (p.Ile400Leu)
c.772-1098A>C (n.772-1098A>C)
n.1005A>C
17g.46024019A>GCA291117944MAPTc.1087A>G (p.Ile363Val)
c.1000A>G (p.Ile334Val)
c.1174A>G (p.Ile392Val)
n.400A>G
n.358A>G
n.592A>G
c.2350A>G (p.Ile784Val)
c.2059A>G (p.Ile687Val)
c.994A>G (p.Ile332Val)
c.1123A>G (p.Ile375Val)
c.2125A>G (p.Ile709Val)
c.907A>G (p.Ile303Val)
c.2179A>G (p.Ile727Val)
c.1081A>G (p.Ile361Val)
n.6366A>G
c.2437A>G (p.Ile813Val)
c.2344A>G (p.Ile782Val)
c.2263A>G (p.Ile755Val)
c.2239A>G (p.Ile747Val)
c.2146A>G (p.Ile716Val)
c.1372A>G (p.Ile458Val)
c.1285A>G (p.Ile429Val)
c.1198A>G (p.Ile400Val)
c.772-1098A>G (n.772-1098A>G)
n.1005A>G
 ClinVar dbSNP gnomAD v4
17g.46024019A>TCA399984398MAPTc.1087A>T (p.Ile363Phe)
c.1000A>T (p.Ile334Phe)
c.1174A>T (p.Ile392Phe)
n.400A>T
n.358A>T
n.592A>T
c.2350A>T (p.Ile784Phe)
c.2059A>T (p.Ile687Phe)
c.994A>T (p.Ile332Phe)
c.1123A>T (p.Ile375Phe)
c.2125A>T (p.Ile709Phe)
c.907A>T (p.Ile303Phe)
c.2179A>T (p.Ile727Phe)
c.1081A>T (p.Ile361Phe)
n.6366A>T
c.2437A>T (p.Ile813Phe)
c.2344A>T (p.Ile782Phe)
c.2263A>T (p.Ile755Phe)
c.2239A>T (p.Ile747Phe)
c.2146A>T (p.Ile716Phe)
c.1372A>T (p.Ile458Phe)
c.1285A>T (p.Ile429Phe)
c.1198A>T (p.Ile400Phe)
c.772-1098A>T (n.772-1098A>T)
n.1005A>T
17g.46024020T>ACA399984399MAPTc.1088T>A (p.Ile363Asn)
c.1001T>A (p.Ile334Asn)
c.1175T>A (p.Ile392Asn)
n.401T>A
n.359T>A
n.593T>A
c.2351T>A (p.Ile784Asn)
c.2060T>A (p.Ile687Asn)
c.995T>A (p.Ile332Asn)
c.1124T>A (p.Ile375Asn)
c.2126T>A (p.Ile709Asn)
c.908T>A (p.Ile303Asn)
c.2180T>A (p.Ile727Asn)
c.1082T>A (p.Ile361Asn)
n.6367T>A
c.2438T>A (p.Ile813Asn)
c.2345T>A (p.Ile782Asn)
c.2264T>A (p.Ile755Asn)
c.2240T>A (p.Ile747Asn)
c.2147T>A (p.Ile716Asn)
c.1373T>A (p.Ile458Asn)
c.1286T>A (p.Ile429Asn)
c.1199T>A (p.Ile400Asn)
c.772-1097T>A (n.772-1097T>A)
n.1006T>A
17g.46024020T>CCA399984401MAPTc.1088T>C (p.Ile363Thr)
c.1001T>C (p.Ile334Thr)
c.1175T>C (p.Ile392Thr)
n.401T>C
n.359T>C
n.593T>C
c.2351T>C (p.Ile784Thr)
c.2060T>C (p.Ile687Thr)
c.995T>C (p.Ile332Thr)
c.1124T>C (p.Ile375Thr)
c.2126T>C (p.Ile709Thr)
c.908T>C (p.Ile303Thr)
c.2180T>C (p.Ile727Thr)
c.1082T>C (p.Ile361Thr)
n.6367T>C
c.2438T>C (p.Ile813Thr)
c.2345T>C (p.Ile782Thr)
c.2264T>C (p.Ile755Thr)
c.2240T>C (p.Ile747Thr)
c.2147T>C (p.Ile716Thr)
c.1373T>C (p.Ile458Thr)
c.1286T>C (p.Ile429Thr)
c.1199T>C (p.Ile400Thr)
c.772-1097T>C (n.772-1097T>C)
n.1006T>C
17g.46024020T>GCA399984400MAPTc.1088T>G (p.Ile363Ser)
c.1001T>G (p.Ile334Ser)
c.1175T>G (p.Ile392Ser)
n.401T>G
n.359T>G
n.593T>G
c.2351T>G (p.Ile784Ser)
c.2060T>G (p.Ile687Ser)
c.995T>G (p.Ile332Ser)
c.1124T>G (p.Ile375Ser)
c.2126T>G (p.Ile709Ser)
c.908T>G (p.Ile303Ser)
c.2180T>G (p.Ile727Ser)
c.1082T>G (p.Ile361Ser)
n.6367T>G
c.2438T>G (p.Ile813Ser)
c.2345T>G (p.Ile782Ser)
c.2264T>G (p.Ile755Ser)
c.2240T>G (p.Ile747Ser)
c.2147T>G (p.Ile716Ser)
c.1373T>G (p.Ile458Ser)
c.1286T>G (p.Ile429Ser)
c.1199T>G (p.Ile400Ser)
c.772-1097T>G (n.772-1097T>G)
n.1006T>G
17g.46024021C>ACA500371434MAPTc.1089C>A (p.Ile363=)
c.1002C>A (p.Ile334=)
c.1176C>A (p.Ile392=)
n.402C>A
n.360C>A
n.594C>A
c.2352C>A (p.Ile784=)
c.2061C>A (p.Ile687=)
c.996C>A (p.Ile332=)
c.1125C>A (p.Ile375=)
c.2127C>A (p.Ile709=)
c.909C>A (p.Ile303=)
c.2181C>A (p.Ile727=)
c.1083C>A (p.Ile361=)
n.6368C>A
c.2439C>A (p.Ile813=)
c.2346C>A (p.Ile782=)
c.2265C>A (p.Ile755=)
c.2241C>A (p.Ile747=)
c.2148C>A (p.Ile716=)
c.1374C>A (p.Ile458=)
c.1287C>A (p.Ile429=)
c.1200C>A (p.Ile400=)
c.772-1096C>A (n.772-1096C>A)
n.1007C>A
17g.46024021C=CA2262106922MAPTc.1089C= (p.Ile363=)
c.1002C= (p.Ile334=)
c.1176C= (p.Ile392=)
n.402C=
n.360C=
n.594C=
c.2352C= (p.Ile784=)
c.2061C= (p.Ile687=)
c.996C= (p.Ile332=)
c.1125C= (p.Ile375=)
c.2127C= (p.Ile709=)
c.909C= (p.Ile303=)
c.2181C= (p.Ile727=)
c.1083C= (p.Ile361=)
n.6368C=
c.2439C= (p.Ile813=)
c.2346C= (p.Ile782=)
c.2265C= (p.Ile755=)
c.2241C= (p.Ile747=)
c.2148C= (p.Ile716=)
c.1374C= (p.Ile458=)
c.1287C= (p.Ile429=)
c.1200C= (p.Ile400=)
c.772-1096C= (n.772-1096C=)
n.1007C=
17g.46024021C>GCA399984402MAPTc.1089C>G (p.Ile363Met)
c.1002C>G (p.Ile334Met)
c.1176C>G (p.Ile392Met)
n.402C>G
n.360C>G
n.594C>G
c.2352C>G (p.Ile784Met)
c.2061C>G (p.Ile687Met)
c.996C>G (p.Ile332Met)
c.1125C>G (p.Ile375Met)
c.2127C>G (p.Ile709Met)
c.909C>G (p.Ile303Met)
c.2181C>G (p.Ile727Met)
c.1083C>G (p.Ile361Met)
n.6368C>G
c.2439C>G (p.Ile813Met)
c.2346C>G (p.Ile782Met)
c.2265C>G (p.Ile755Met)
c.2241C>G (p.Ile747Met)
c.2148C>G (p.Ile716Met)
c.1374C>G (p.Ile458Met)
c.1287C>G (p.Ile429Met)
c.1200C>G (p.Ile400Met)
c.772-1096C>G (n.772-1096C>G)
n.1007C>G
17g.46024021C>TCA291117949MAPTc.1089C>T (p.Ile363=)
c.1002C>T (p.Ile334=)
c.1176C>T (p.Ile392=)
n.402C>T
n.360C>T
n.594C>T
c.2352C>T (p.Ile784=)
c.2061C>T (p.Ile687=)
c.996C>T (p.Ile332=)
c.1125C>T (p.Ile375=)
c.2127C>T (p.Ile709=)
c.909C>T (p.Ile303=)
c.2181C>T (p.Ile727=)
c.1083C>T (p.Ile361=)
n.6368C>T
c.2439C>T (p.Ile813=)
c.2346C>T (p.Ile782=)
c.2265C>T (p.Ile755=)
c.2241C>T (p.Ile747=)
c.2148C>T (p.Ile716=)
c.1374C>T (p.Ile458=)
c.1287C>T (p.Ile429=)
c.1200C>T (p.Ile400=)
c.772-1096C>T (n.772-1096C>T)
n.1007C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46024022G>ACA291117964MAPTc.1090G>A (p.Val364Met)
c.1003G>A (p.Val335Met)
c.1177G>A (p.Val393Met)
n.403G>A
n.361G>A
n.595G>A
c.2353G>A (p.Val785Met)
c.2062G>A (p.Val688Met)
c.997G>A (p.Val333Met)
c.1126G>A (p.Val376Met)
c.2128G>A (p.Val710Met)
c.910G>A (p.Val304Met)
c.2182G>A (p.Val728Met)
c.1084G>A (p.Val362Met)
n.6369G>A
c.2440G>A (p.Val814Met)
c.2347G>A (p.Val783Met)
c.2266G>A (p.Val756Met)
c.2242G>A (p.Val748Met)
c.2149G>A (p.Val717Met)
c.1375G>A (p.Val459Met)
c.1288G>A (p.Val430Met)
c.1201G>A (p.Val401Met)
c.772-1095G>A (n.772-1095G>A)
n.1008G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.46024022G>CCA399984403MAPTc.1090G>C (p.Val364Leu)
c.1003G>C (p.Val335Leu)
c.1177G>C (p.Val393Leu)
n.403G>C
n.361G>C
n.595G>C
c.2353G>C (p.Val785Leu)
c.2062G>C (p.Val688Leu)
c.997G>C (p.Val333Leu)
c.1126G>C (p.Val376Leu)
c.2128G>C (p.Val710Leu)
c.910G>C (p.Val304Leu)
c.2182G>C (p.Val728Leu)
c.1084G>C (p.Val362Leu)
n.6369G>C
c.2440G>C (p.Val814Leu)
c.2347G>C (p.Val783Leu)
c.2266G>C (p.Val756Leu)
c.2242G>C (p.Val748Leu)
c.2149G>C (p.Val717Leu)
c.1375G>C (p.Val459Leu)
c.1288G>C (p.Val430Leu)
c.1201G>C (p.Val401Leu)
c.772-1095G>C (n.772-1095G>C)
n.1008G>C
17g.46024022G=CA2262106923MAPTc.1090G= (p.Val364=)
c.1003G= (p.Val335=)
c.1177G= (p.Val393=)
n.403G=
n.361G=
n.595G=
c.2353G= (p.Val785=)
c.2062G= (p.Val688=)
c.997G= (p.Val333=)
c.1126G= (p.Val376=)
c.2128G= (p.Val710=)
c.910G= (p.Val304=)
c.2182G= (p.Val728=)
c.1084G= (p.Val362=)
n.6369G=
c.2440G= (p.Val814=)
c.2347G= (p.Val783=)
c.2266G= (p.Val756=)
c.2242G= (p.Val748=)
c.2149G= (p.Val717=)
c.1375G= (p.Val459=)
c.1288G= (p.Val430=)
c.1201G= (p.Val401=)
c.772-1095G= (n.772-1095G=)
n.1008G=
17g.46024022G>TCA399984404MAPTc.1090G>T (p.Val364Leu)
c.1003G>T (p.Val335Leu)
c.1177G>T (p.Val393Leu)
n.403G>T
n.361G>T
n.595G>T
c.2353G>T (p.Val785Leu)
c.2062G>T (p.Val688Leu)
c.997G>T (p.Val333Leu)
c.1126G>T (p.Val376Leu)
c.2128G>T (p.Val710Leu)
c.910G>T (p.Val304Leu)
c.2182G>T (p.Val728Leu)
c.1084G>T (p.Val362Leu)
n.6369G>T
c.2440G>T (p.Val814Leu)
c.2347G>T (p.Val783Leu)
c.2266G>T (p.Val756Leu)
c.2242G>T (p.Val748Leu)
c.2149G>T (p.Val717Leu)
c.1375G>T (p.Val459Leu)
c.1288G>T (p.Val430Leu)
c.1201G>T (p.Val401Leu)
c.772-1095G>T (n.772-1095G>T)
n.1008G>T
17g.46024023T>ACA399984405MAPTc.1091T>A (p.Val364Glu)
c.1004T>A (p.Val335Glu)
c.1178T>A (p.Val393Glu)
n.404T>A
n.362T>A
n.596T>A
c.2354T>A (p.Val785Glu)
c.2063T>A (p.Val688Glu)
c.998T>A (p.Val333Glu)
c.1127T>A (p.Val376Glu)
c.2129T>A (p.Val710Glu)
c.911T>A (p.Val304Glu)
c.2183T>A (p.Val728Glu)
c.1085T>A (p.Val362Glu)
n.6370T>A
c.2441T>A (p.Val814Glu)
c.2348T>A (p.Val783Glu)
c.2267T>A (p.Val756Glu)
c.2243T>A (p.Val748Glu)
c.2150T>A (p.Val717Glu)
c.1376T>A (p.Val459Glu)
c.1289T>A (p.Val430Glu)
c.1202T>A (p.Val401Glu)
c.772-1094T>A (n.772-1094T>A)
n.1009T>A
17g.46024023T>CCA399984406MAPTc.1091T>C (p.Val364Ala)
c.1004T>C (p.Val335Ala)
c.1178T>C (p.Val393Ala)
n.404T>C
n.362T>C
n.596T>C
c.2354T>C (p.Val785Ala)
c.2063T>C (p.Val688Ala)
c.998T>C (p.Val333Ala)
c.1127T>C (p.Val376Ala)
c.2129T>C (p.Val710Ala)
c.911T>C (p.Val304Ala)
c.2183T>C (p.Val728Ala)
c.1085T>C (p.Val362Ala)
n.6370T>C
c.2441T>C (p.Val814Ala)
c.2348T>C (p.Val783Ala)
c.2267T>C (p.Val756Ala)
c.2243T>C (p.Val748Ala)
c.2150T>C (p.Val717Ala)
c.1376T>C (p.Val459Ala)
c.1289T>C (p.Val430Ala)
c.1202T>C (p.Val401Ala)
c.772-1094T>C (n.772-1094T>C)
n.1009T>C
 COSMIC
17g.46024023T>GCA399984407MAPTc.1091T>G (p.Val364Gly)
c.1004T>G (p.Val335Gly)
c.1178T>G (p.Val393Gly)
n.404T>G
n.362T>G
n.596T>G
c.2354T>G (p.Val785Gly)
c.2063T>G (p.Val688Gly)
c.998T>G (p.Val333Gly)
c.1127T>G (p.Val376Gly)
c.2129T>G (p.Val710Gly)
c.911T>G (p.Val304Gly)
c.2183T>G (p.Val728Gly)
c.1085T>G (p.Val362Gly)
n.6370T>G
c.2441T>G (p.Val814Gly)
c.2348T>G (p.Val783Gly)
c.2267T>G (p.Val756Gly)
c.2243T>G (p.Val748Gly)
c.2150T>G (p.Val717Gly)
c.1376T>G (p.Val459Gly)
c.1289T>G (p.Val430Gly)
c.1202T>G (p.Val401Gly)
c.772-1094T>G (n.772-1094T>G)
n.1009T>G
17g.46024024G>ACA500371437MAPTc.1092G>A (p.Val364=)
c.1005G>A (p.Val335=)
c.1179G>A (p.Val393=)
n.405G>A
n.363G>A
n.597G>A
c.2355G>A (p.Val785=)
c.2064G>A (p.Val688=)
c.999G>A (p.Val333=)
c.1128G>A (p.Val376=)
c.2130G>A (p.Val710=)
c.912G>A (p.Val304=)
c.2184G>A (p.Val728=)
c.1086G>A (p.Val362=)
n.6371G>A
c.2442G>A (p.Val814=)
c.2349G>A (p.Val783=)
c.2268G>A (p.Val756=)
c.2244G>A (p.Val748=)
c.2151G>A (p.Val717=)
c.1377G>A (p.Val459=)
c.1290G>A (p.Val430=)
c.1203G>A (p.Val401=)
c.772-1093G>A (n.772-1093G>A)
n.1010G>A
 dbSNP gnomAD v3 gnomAD v4
17g.46024024G>CCA500371435MAPTc.1092G>C (p.Val364=)
c.1005G>C (p.Val335=)
c.1179G>C (p.Val393=)
n.405G>C
n.363G>C
n.597G>C
c.2355G>C (p.Val785=)
c.2064G>C (p.Val688=)
c.999G>C (p.Val333=)
c.1128G>C (p.Val376=)
c.2130G>C (p.Val710=)
c.912G>C (p.Val304=)
c.2184G>C (p.Val728=)
c.1086G>C (p.Val362=)
n.6371G>C
c.2442G>C (p.Val814=)
c.2349G>C (p.Val783=)
c.2268G>C (p.Val756=)
c.2244G>C (p.Val748=)
c.2151G>C (p.Val717=)
c.1377G>C (p.Val459=)
c.1290G>C (p.Val430=)
c.1203G>C (p.Val401=)
c.772-1093G>C (n.772-1093G>C)
n.1010G>C
17g.46024024G=CA2262106924MAPTc.1092G= (p.Val364=)
c.1005G= (p.Val335=)
c.1179G= (p.Val393=)
n.405G=
n.363G=
n.597G=
c.2355G= (p.Val785=)
c.2064G= (p.Val688=)
c.999G= (p.Val333=)
c.1128G= (p.Val376=)
c.2130G= (p.Val710=)
c.912G= (p.Val304=)
c.2184G= (p.Val728=)
c.1086G= (p.Val362=)
n.6371G=
c.2442G= (p.Val814=)
c.2349G= (p.Val783=)
c.2268G= (p.Val756=)
c.2244G= (p.Val748=)
c.2151G= (p.Val717=)
c.1377G= (p.Val459=)
c.1290G= (p.Val430=)
c.1203G= (p.Val401=)
c.772-1093G= (n.772-1093G=)
n.1010G=
17g.46024024G>TCA500371436MAPTc.1092G>T (p.Val364=)
c.1005G>T (p.Val335=)
c.1179G>T (p.Val393=)
n.405G>T
n.363G>T
n.597G>T
c.2355G>T (p.Val785=)
c.2064G>T (p.Val688=)
c.999G>T (p.Val333=)
c.1128G>T (p.Val376=)
c.2130G>T (p.Val710=)
c.912G>T (p.Val304=)
c.2184G>T (p.Val728=)
c.1086G>T (p.Val362=)
n.6371G>T
c.2442G>T (p.Val814=)
c.2349G>T (p.Val783=)
c.2268G>T (p.Val756=)
c.2244G>T (p.Val748=)
c.2151G>T (p.Val717=)
c.1377G>T (p.Val459=)
c.1290G>T (p.Val430=)
c.1203G>T (p.Val401=)
c.772-1093G>T (n.772-1093G>T)
n.1010G>T
17g.46024025T>ACA399984408MAPTc.1093T>A (p.Tyr365Asn)
c.1006T>A (p.Tyr336Asn)
c.1180T>A (p.Tyr394Asn)
n.406T>A
n.364T>A
n.598T>A
c.2356T>A (p.Tyr786Asn)
c.2065T>A (p.Tyr689Asn)
c.1000T>A (p.Tyr334Asn)
c.1129T>A (p.Tyr377Asn)
c.2131T>A (p.Tyr711Asn)
c.913T>A (p.Tyr305Asn)
c.2185T>A (p.Tyr729Asn)
c.1087T>A (p.Tyr363Asn)
n.6372T>A
c.2443T>A (p.Tyr815Asn)
c.2350T>A (p.Tyr784Asn)
c.2269T>A (p.Tyr757Asn)
c.2245T>A (p.Tyr749Asn)
c.2152T>A (p.Tyr718Asn)
c.1378T>A (p.Tyr460Asn)
c.1291T>A (p.Tyr431Asn)
c.1204T>A (p.Tyr402Asn)
c.772-1092T>A (n.772-1092T>A)
n.1011T>A
17g.46024025T>CCA399984409MAPTc.1093T>C (p.Tyr365His)
c.1006T>C (p.Tyr336His)
c.1180T>C (p.Tyr394His)
n.406T>C
n.364T>C
n.598T>C
c.2356T>C (p.Tyr786His)
c.2065T>C (p.Tyr689His)
c.1000T>C (p.Tyr334His)
c.1129T>C (p.Tyr377His)
c.2131T>C (p.Tyr711His)
c.913T>C (p.Tyr305His)
c.2185T>C (p.Tyr729His)
c.1087T>C (p.Tyr363His)
n.6372T>C
c.2443T>C (p.Tyr815His)
c.2350T>C (p.Tyr784His)
c.2269T>C (p.Tyr757His)
c.2245T>C (p.Tyr749His)
c.2152T>C (p.Tyr718His)
c.1378T>C (p.Tyr460His)
c.1291T>C (p.Tyr431His)
c.1204T>C (p.Tyr402His)
c.772-1092T>C (n.772-1092T>C)
n.1011T>C
17g.46024025T>GCA399984410MAPTc.1093T>G (p.Tyr365Asp)
c.1006T>G (p.Tyr336Asp)
c.1180T>G (p.Tyr394Asp)
n.406T>G
n.364T>G
n.598T>G
c.2356T>G (p.Tyr786Asp)
c.2065T>G (p.Tyr689Asp)
c.1000T>G (p.Tyr334Asp)
c.1129T>G (p.Tyr377Asp)
c.2131T>G (p.Tyr711Asp)
c.913T>G (p.Tyr305Asp)
c.2185T>G (p.Tyr729Asp)
c.1087T>G (p.Tyr363Asp)
n.6372T>G
c.2443T>G (p.Tyr815Asp)
c.2350T>G (p.Tyr784Asp)
c.2269T>G (p.Tyr757Asp)
c.2245T>G (p.Tyr749Asp)
c.2152T>G (p.Tyr718Asp)
c.1378T>G (p.Tyr460Asp)
c.1291T>G (p.Tyr431Asp)
c.1204T>G (p.Tyr402Asp)
c.772-1092T>G (n.772-1092T>G)
n.1011T>G
17g.46024026A>CCA399984412MAPTc.1094A>C (p.Tyr365Ser)
c.1007A>C (p.Tyr336Ser)
c.1181A>C (p.Tyr394Ser)
n.407A>C
n.365A>C
n.599A>C
c.2357A>C (p.Tyr786Ser)
c.2066A>C (p.Tyr689Ser)
c.1001A>C (p.Tyr334Ser)
c.1130A>C (p.Tyr377Ser)
c.2132A>C (p.Tyr711Ser)
c.914A>C (p.Tyr305Ser)
c.2186A>C (p.Tyr729Ser)
c.1088A>C (p.Tyr363Ser)
n.6373A>C
c.2444A>C (p.Tyr815Ser)
c.2351A>C (p.Tyr784Ser)
c.2270A>C (p.Tyr757Ser)
c.2246A>C (p.Tyr749Ser)
c.2153A>C (p.Tyr718Ser)
c.1379A>C (p.Tyr460Ser)
c.1292A>C (p.Tyr431Ser)
c.1205A>C (p.Tyr402Ser)
c.772-1091A>C (n.772-1091A>C)
n.1012A>C
17g.46024026A>GCA399984413MAPTc.1094A>G (p.Tyr365Cys)
c.1007A>G (p.Tyr336Cys)
c.1181A>G (p.Tyr394Cys)
n.407A>G
n.365A>G
n.599A>G
c.2357A>G (p.Tyr786Cys)
c.2066A>G (p.Tyr689Cys)
c.1001A>G (p.Tyr334Cys)
c.1130A>G (p.Tyr377Cys)
c.2132A>G (p.Tyr711Cys)
c.914A>G (p.Tyr305Cys)
c.2186A>G (p.Tyr729Cys)
c.1088A>G (p.Tyr363Cys)
n.6373A>G
c.2444A>G (p.Tyr815Cys)
c.2351A>G (p.Tyr784Cys)
c.2270A>G (p.Tyr757Cys)
c.2246A>G (p.Tyr749Cys)
c.2153A>G (p.Tyr718Cys)
c.1379A>G (p.Tyr460Cys)
c.1292A>G (p.Tyr431Cys)
c.1205A>G (p.Tyr402Cys)
c.772-1091A>G (n.772-1091A>G)
n.1012A>G
17g.46024026A>TCA399984411MAPTc.1094A>T (p.Tyr365Phe)
c.1007A>T (p.Tyr336Phe)
c.1181A>T (p.Tyr394Phe)
n.407A>T
n.365A>T
n.599A>T
c.2357A>T (p.Tyr786Phe)
c.2066A>T (p.Tyr689Phe)
c.1001A>T (p.Tyr334Phe)
c.1130A>T (p.Tyr377Phe)
c.2132A>T (p.Tyr711Phe)
c.914A>T (p.Tyr305Phe)
c.2186A>T (p.Tyr729Phe)
c.1088A>T (p.Tyr363Phe)
n.6373A>T
c.2444A>T (p.Tyr815Phe)
c.2351A>T (p.Tyr784Phe)
c.2270A>T (p.Tyr757Phe)
c.2246A>T (p.Tyr749Phe)
c.2153A>T (p.Tyr718Phe)
c.1379A>T (p.Tyr460Phe)
c.1292A>T (p.Tyr431Phe)
c.1205A>T (p.Tyr402Phe)
c.772-1091A>T (n.772-1091A>T)
n.1012A>T
17g.46024027C>ACA399984415MAPTc.1095C>A (p.Tyr365Ter)
c.1008C>A (p.Tyr336Ter)
c.1182C>A (p.Tyr394Ter)
n.408C>A
n.366C>A
n.600C>A
c.2358C>A (p.Tyr786Ter)
c.2067C>A (p.Tyr689Ter)
c.1002C>A (p.Tyr334Ter)
c.1131C>A (p.Tyr377Ter)
c.2133C>A (p.Tyr711Ter)
c.915C>A (p.Tyr305Ter)
c.2187C>A (p.Tyr729Ter)
c.1089C>A (p.Tyr363Ter)
n.6374C>A
c.2445C>A (p.Tyr815Ter)
c.2352C>A (p.Tyr784Ter)
c.2271C>A (p.Tyr757Ter)
c.2247C>A (p.Tyr749Ter)
c.2154C>A (p.Tyr718Ter)
c.1380C>A (p.Tyr460Ter)
c.1293C>A (p.Tyr431Ter)
c.1206C>A (p.Tyr402Ter)
c.772-1090C>A (n.772-1090C>A)
n.1013C>A
17g.46024027C=CA2262106925MAPTc.1095C= (p.Tyr365=)
c.1008C= (p.Tyr336=)
c.1182C= (p.Tyr394=)
n.408C=
n.366C=
n.600C=
c.2358C= (p.Tyr786=)
c.2067C= (p.Tyr689=)
c.1002C= (p.Tyr334=)
c.1131C= (p.Tyr377=)
c.2133C= (p.Tyr711=)
c.915C= (p.Tyr305=)
c.2187C= (p.Tyr729=)
c.1089C= (p.Tyr363=)
n.6374C=
c.2445C= (p.Tyr815=)
c.2352C= (p.Tyr784=)
c.2271C= (p.Tyr757=)
c.2247C= (p.Tyr749=)
c.2154C= (p.Tyr718=)
c.1380C= (p.Tyr460=)
c.1293C= (p.Tyr431=)
c.1206C= (p.Tyr402=)
c.772-1090C= (n.772-1090C=)
n.1013C=
17g.46024027C>GCA399984414MAPTc.1095C>G (p.Tyr365Ter)
c.1008C>G (p.Tyr336Ter)
c.1182C>G (p.Tyr394Ter)
n.408C>G
n.366C>G
n.600C>G
c.2358C>G (p.Tyr786Ter)
c.2067C>G (p.Tyr689Ter)
c.1002C>G (p.Tyr334Ter)
c.1131C>G (p.Tyr377Ter)
c.2133C>G (p.Tyr711Ter)
c.915C>G (p.Tyr305Ter)
c.2187C>G (p.Tyr729Ter)
c.1089C>G (p.Tyr363Ter)
n.6374C>G
c.2445C>G (p.Tyr815Ter)
c.2352C>G (p.Tyr784Ter)
c.2271C>G (p.Tyr757Ter)
c.2247C>G (p.Tyr749Ter)
c.2154C>G (p.Tyr718Ter)
c.1380C>G (p.Tyr460Ter)
c.1293C>G (p.Tyr431Ter)
c.1206C>G (p.Tyr402Ter)
c.772-1090C>G (n.772-1090C>G)
n.1013C>G
17g.46024027C>TCA8618257MAPTc.1095C>T (p.Tyr365=)
c.1008C>T (p.Tyr336=)
c.1182C>T (p.Tyr394=)
n.408C>T
n.366C>T
n.600C>T
c.2358C>T (p.Tyr786=)
c.2067C>T (p.Tyr689=)
c.1002C>T (p.Tyr334=)
c.1131C>T (p.Tyr377=)
c.2133C>T (p.Tyr711=)
c.915C>T (p.Tyr305=)
c.2187C>T (p.Tyr729=)
c.1089C>T (p.Tyr363=)
n.6374C>T
c.2445C>T (p.Tyr815=)
c.2352C>T (p.Tyr784=)
c.2271C>T (p.Tyr757=)
c.2247C>T (p.Tyr749=)
c.2154C>T (p.Tyr718=)
c.1380C>T (p.Tyr460=)
c.1293C>T (p.Tyr431=)
c.1206C>T (p.Tyr402=)
c.772-1090C>T (n.772-1090C>T)
n.1013C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46024028A>CCA399984416MAPTc.1096A>C (p.Lys366Gln)
c.1009A>C (p.Lys337Gln)
c.1183A>C (p.Lys395Gln)
n.409A>C
n.367A>C
n.601A>C
c.2359A>C (p.Lys787Gln)
c.2068A>C (p.Lys690Gln)
c.1003A>C (p.Lys335Gln)
c.1132A>C (p.Lys378Gln)
c.2134A>C (p.Lys712Gln)
c.916A>C (p.Lys306Gln)
c.2188A>C (p.Lys730Gln)
c.1090A>C (p.Lys364Gln)
n.6375A>C
c.2446A>C (p.Lys816Gln)
c.2353A>C (p.Lys785Gln)
c.2272A>C (p.Lys758Gln)
c.2248A>C (p.Lys750Gln)
c.2155A>C (p.Lys719Gln)
c.1381A>C (p.Lys461Gln)
c.1294A>C (p.Lys432Gln)
c.1207A>C (p.Lys403Gln)
c.772-1089A>C (n.772-1089A>C)
n.1014A>C
17g.46024028A>GCA399984417MAPTc.1096A>G (p.Lys366Glu)
c.1009A>G (p.Lys337Glu)
c.1183A>G (p.Lys395Glu)
n.409A>G
n.367A>G
n.601A>G
c.2359A>G (p.Lys787Glu)
c.2068A>G (p.Lys690Glu)
c.1003A>G (p.Lys335Glu)
c.1132A>G (p.Lys378Glu)
c.2134A>G (p.Lys712Glu)
c.916A>G (p.Lys306Glu)
c.2188A>G (p.Lys730Glu)
c.1090A>G (p.Lys364Glu)
n.6375A>G
c.2446A>G (p.Lys816Glu)
c.2353A>G (p.Lys785Glu)
c.2272A>G (p.Lys758Glu)
c.2248A>G (p.Lys750Glu)
c.2155A>G (p.Lys719Glu)
c.1381A>G (p.Lys461Glu)
c.1294A>G (p.Lys432Glu)
c.1207A>G (p.Lys403Glu)
c.772-1089A>G (n.772-1089A>G)
n.1014A>G
17g.46024028A>TCA399984418MAPTc.1096A>T (p.Lys366Ter)
c.1009A>T (p.Lys337Ter)
c.1183A>T (p.Lys395Ter)
n.409A>T
n.367A>T
n.601A>T
c.2359A>T (p.Lys787Ter)
c.2068A>T (p.Lys690Ter)
c.1003A>T (p.Lys335Ter)
c.1132A>T (p.Lys378Ter)
c.2134A>T (p.Lys712Ter)
c.916A>T (p.Lys306Ter)
c.2188A>T (p.Lys730Ter)
c.1090A>T (p.Lys364Ter)
n.6375A>T
c.2446A>T (p.Lys816Ter)
c.2353A>T (p.Lys785Ter)
c.2272A>T (p.Lys758Ter)
c.2248A>T (p.Lys750Ter)
c.2155A>T (p.Lys719Ter)
c.1381A>T (p.Lys461Ter)
c.1294A>T (p.Lys432Ter)
c.1207A>T (p.Lys403Ter)
c.772-1089A>T (n.772-1089A>T)
n.1014A>T

Number of alleles fetched