Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.46023938_46023941del | CA2576299111 | MAPT | c.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 |
17 | g.46023934C= | CA2262106888 | MAPT | c.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= | |
17 | g.46023934C>T | CA8618242 | MAPT | c.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 |
17 | g.46023935C= | CA2262106889 | MAPT | c.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= | |
17 | g.46023935C>G | CA2262106890 | MAPT | c.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 |
17 | g.46023935C>T | CA2638368759 | MAPT | c.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 |
17 | g.46023936C>A | CA2576299113 | MAPT | c.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 | |
17 | g.46023936C= | CA2262106891 | MAPT | c.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= | |
17 | g.46023936C>G | CA291117877 | MAPT | c.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 |
17 | g.46023936C>T | CA2262106892 | MAPT | c.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 |
17 | g.46023937T= | CA2262106893 | MAPT | c.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= | |
17 | g.46023938C>T | CA2638368762 | MAPT | c.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 |
17 | g.46023940dup | CA772443683 | MAPT | c.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 |
17 | g.46023938_46023942delinsCCCTT | CA2262106894 | MAPT | c.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 | |
17 | g.46023942_46023945del | CA626332949 | MAPT | c.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 |
17 | g.46023941T>A | CA984131319 | MAPT | c.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 |
17 | g.46023941T>C | CA984131321 | MAPT | c.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 |
17 | g.46023941T= | CA2262106895 | MAPT | c.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= | |
17 | g.46023943C>A | CA2638368766 | MAPT | c.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 |
17 | g.46023943C>T | CA2638368767 | MAPT | c.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 |
17 | g.46023944C>T | CA2580093984 | MAPT | c.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 |
17 | g.46023947T>C | CA2638368774 | MAPT | c.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 |
17 | g.46023947T>G | CA8618243 | MAPT | c.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 |
17 | g.46023947T= | CA2262106896 | MAPT | c.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= | |
17 | g.46023949C= | CA2262106897 | MAPT | c.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= | |
17 | g.46023949C>T | CA8618244 | MAPT | c.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 |
17 | g.46023950T>C | CA2638368781 | MAPT | c.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 |
17 | g.46023950_46023952dup | CA2638368780 | MAPT | c.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 |
17 | g.46023952G>A | CA291117902 | MAPT | c.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 |
17 | g.46023952G= | CA2262106898 | MAPT | c.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= | |
17 | g.46023953C>A | CA8618245 | MAPT | c.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 |
17 | g.46023953C= | CA2262106899 | MAPT | c.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= | |
17 | g.46023953C>T | CA8618246 | MAPT | c.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 |
17 | g.46023954A>C | CA399984249 | MAPT | c.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 | |
17 | g.46023954A>G | CA399984250 | MAPT | c.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 |
17 | g.46023954A>T | CA399984251 | MAPT | c.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 | |
17 | g.46023955G>A | CA399984252 | MAPT | c.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 | |
17 | g.46023955G>C | CA399984254 | MAPT | c.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 | |
17 | g.46023955G>T | CA399984253 | MAPT | c.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 | |
17 | g.46023956A>C | CA399984255 | MAPT | c.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 | |
17 | g.46023956A>G | CA399984256 | MAPT | c.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 | |
17 | g.46023956A>T | CA399984257 | MAPT | c.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 | |
17 | g.46023957T>A | CA399984258 | MAPT | c.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 | |
17 | g.46023957T>C | CA399984259 | MAPT | c.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 | |
17 | g.46023957T>G | CA399984260 | MAPT | c.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 | |
17 | g.46023958T>A | CA500371383 | MAPT | c.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 | |
17 | g.46023958T>C | CA500371382 | MAPT | c.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 | |
17 | g.46023958T>G | CA399984261 | MAPT | c.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 | |
17 | g.46023959G>A | CA399984262 | MAPT | c.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 | |
17 | g.46023959G>C | CA399984263 | MAPT | c.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 | |
17 | g.46023959G>T | CA399984264 | MAPT | c.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 | |
17 | g.46023960A>C | CA399984266 | MAPT | c.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 | |
17 | g.46023960A>G | CA399984267 | MAPT | c.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 | |
17 | g.46023960A>T | CA399984265 | MAPT | c.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 | |
17 | g.46023961A>C | CA399984268 | MAPT | c.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 | |
17 | g.46023961A>G | CA500371384 | MAPT | c.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 | |
17 | g.46023961A>T | CA399984269 | MAPT | c.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 | |
17 | g.46023962A>C | CA399984270 | MAPT | c.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 | |
17 | g.46023962A>G | CA399984271 | MAPT | c.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 | |
17 | g.46023962A>T | CA399984272 | MAPT | c.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 | |
17 | g.46023963C>A | CA399984273 | MAPT | c.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 | |
17 | g.46023963C= | CA2262106900 | MAPT | c.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= | |
17 | g.46023963C>G | CA399984274 | MAPT | c.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 | |
17 | g.46023963C>T | CA399984275 | MAPT | c.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 |
17 | g.46023964C>A | CA500371386 | MAPT | c.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 | |
17 | g.46023964C>G | CA500371387 | MAPT | c.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 | |
17 | g.46023964C>T | CA500371385 | MAPT | c.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 | |
17 | g.46023965C>A | CA399984276 | MAPT | c.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 | |
17 | g.46023965C>G | CA399984277 | MAPT | c.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 | |
17 | g.46023965C>T | CA399984278 | MAPT | c.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 | |
17 | g.46023966A>C | CA399984279 | MAPT | c.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 | |
17 | g.46023966A>G | CA399984280 | MAPT | c.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 | |
17 | g.46023966A>T | CA399984281 | MAPT | c.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 | |
17 | g.46023967C>A | CA399984282 | MAPT | c.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 | |
17 | g.46023967C>G | CA399984283 | MAPT | c.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 | |
17 | g.46023967C>T | CA500371388 | MAPT | c.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 | |
17 | g.46023968A>C | CA399984284 | MAPT | c.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 | |
17 | g.46023968A>G | CA399984285 | MAPT | c.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 | |
17 | g.46023968A>T | CA399984286 | MAPT | c.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 | |
17 | g.46023969A>C | CA399984287 | MAPT | c.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 | |
17 | g.46023969A>G | CA399984288 | MAPT | c.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 |
17 | g.46023969A>T | CA399984289 | MAPT | c.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 | |
17 | g.46023970G>A | CA500371389 | MAPT | c.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 |
17 | g.46023970G>C | CA399984290 | MAPT | c.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 | |
17 | g.46023970G>T | CA399984291 | MAPT | c.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 | |
17 | g.46023971C>A | CA399984292 | MAPT | c.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 | |
17 | g.46023971C= | CA2262106901 | MAPT | c.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= | |
17 | g.46023971C>G | CA399984293 | MAPT | c.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 |
17 | g.46023971C>T | CA500371390 | MAPT | c.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 |
17 | g.46023972T>A | CA399984294 | MAPT | c.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 |
17 | g.46023972T>C | CA399984295 | MAPT | c.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 | |
17 | g.46023972T>G | CA399984296 | MAPT | c.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 | |
17 | g.46023973G>A | CA500371393 | MAPT | c.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 | |
17 | g.46023973G>C | CA500371392 | MAPT | c.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 | |
17 | g.46023973G>T | CA500371391 | MAPT | c.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 | |
17 | g.46023974A>C | CA399984299 | MAPT | c.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 | |
17 | g.46023974A>G | CA399984298 | MAPT | c.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 | |
17 | g.46023974A>T | CA399984297 | MAPT | c.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 | |
17 | g.46023975C>A | CA399984300 | MAPT | c.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 | |
17 | g.46023975C>G | CA399984302 | MAPT | c.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 | |
17 | g.46023975C>T | CA399984301 | MAPT | c.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 | |
17 | g.46023976C>A | CA500371395 | MAPT | c.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 |
17 | g.46023976C= | CA2262106902 | MAPT | c.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= | |
17 | g.46023976C>G | CA500371396 | MAPT | c.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 | |
17 | g.46023976C>T | CA500371394 | MAPT | c.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 | |
17 | g.46023977T>A | CA399984303 | MAPT | c.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 | |
17 | g.46023977T>C | CA399984305 | MAPT | c.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 | |
17 | g.46023977T>G | CA399984304 | MAPT | c.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 | |
17 | g.46023978T>A | CA399984306 | MAPT | c.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 | |
17 | g.46023978T>C | CA399984307 | MAPT | c.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 | |
17 | g.46023978T>G | CA399984308 | MAPT | c.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 | |
17 | g.46023979C>A | CA399984309 | MAPT | c.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 | |
17 | g.46023979C>G | CA399984310 | MAPT | c.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 | |
17 | g.46023979C>T | CA500371397 | MAPT | c.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 | |
17 | g.46023980C>A | CA399984311 | MAPT | c.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 | |
17 | g.46023980C= | CA2262106903 | MAPT | c.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= | |
17 | g.46023980C>G | CA399984312 | MAPT | c.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 | |
17 | g.46023980C>T | CA8618247 | MAPT | c.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 |
17 | g.46023981G>A | CA399984313 | MAPT | c.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 |
17 | g.46023981G>C | CA399984315 | MAPT | c.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 | |
17 | g.46023981G= | CA2262106904 | MAPT | c.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= | |
17 | g.46023981G>T | CA399984314 | MAPT | c.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 | |
17 | g.46023982C>A | CA500371399 | MAPT | c.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 |
17 | g.46023982C= | CA2262106905 | MAPT | c.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= | |
17 | g.46023982C>G | CA500371398 | MAPT | c.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 | |
17 | g.46023982C>T | CA8618248 | MAPT | c.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 |
17 | g.46023983G>A | CA399984316 | MAPT | c.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 |
17 | g.46023983G>C | CA399984317 | MAPT | c.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 | |
17 | g.46023983G>T | CA399984318 | MAPT | c.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 | |
17 | g.46023984A>C | CA399984319 | MAPT | c.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 | |
17 | g.46023984A>G | CA399984321 | MAPT | c.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 | |
17 | g.46023984A>T | CA399984320 | MAPT | c.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 | |
17 | g.46023985G>A | CA500371400 | MAPT | c.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 | |
17 | g.46023985G>C | CA399984322 | MAPT | c.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 | |
17 | g.46023985G>T | CA399984323 | MAPT | c.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 | |
17 | g.46023986A>C | CA399984324 | MAPT | c.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 | |
17 | g.46023986A>G | CA399984325 | MAPT | c.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 | |
17 | g.46023986A>T | CA399984326 | MAPT | c.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 | |
17 | g.46023987A>C | CA399984327 | MAPT | c.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 | |
17 | g.46023987A>G | CA399984328 | MAPT | c.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 | |
17 | g.46023987A>T | CA399984329 | MAPT | c.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 | |
17 | g.46023988C>A | CA399984330 | MAPT | c.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 | |
17 | g.46023988C= | CA2262106906 | MAPT | c.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= | |
17 | g.46023988C>G | CA399984331 | MAPT | c.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 | |
17 | g.46023988C>T | CA8618249 | MAPT | c.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 |
17 | g.46023989G>A | CA399984334 | MAPT | c.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 |
17 | g.46023989G>C | CA399984332 | MAPT | c.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 | |
17 | g.46023989G= | CA2262106907 | MAPT | c.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= | |
17 | g.46023989G>T | CA399984333 | MAPT | c.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 | |
17 | g.46023990C>A | CA399984335 | MAPT | c.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 | |
17 | g.46023990C= | CA2262106908 | MAPT | c.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= | |
17 | g.46023990C>G | CA399984336 | MAPT | c.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 | |
17 | g.46023990C>T | CA399984337 | MAPT | c.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 |
17 | g.46023991C>A | CA500371402 | MAPT | c.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 | |
17 | g.46023991C= | CA2262106909 | MAPT | c.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= | |
17 | g.46023991C>G | CA500371404 | MAPT | c.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 |
17 | g.46023991C>T | CA500371403 | MAPT | c.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 |
17 | g.46023992A= | CA2262106910 | MAPT | c.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= | |
17 | g.46023992A>C | CA399984338 | MAPT | c.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 | |
17 | g.46023992A>G | CA8618250 | MAPT | c.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 |
17 | g.46023992A>T | CA399984339 | MAPT | c.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 | |
17 | g.46023993A>C | CA399984342 | MAPT | c.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 | |
17 | g.46023993A>G | CA399984340 | MAPT | c.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 | |
17 | g.46023993A>T | CA399984341 | MAPT | c.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 | |
17 | g.46023994A>C | CA399984343 | MAPT | c.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 | |
17 | g.46023994A>G | CA500371406 | MAPT | c.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 | |
17 | g.46023994A>T | CA399984344 | MAPT | c.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 | |
17 | g.46023995G>A | CA399984345 | MAPT | c.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 | |
17 | g.46023995G>C | CA399984346 | MAPT | c.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 | |
17 | g.46023995G>T | CA399984347 | MAPT | c.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 | |
17 | g.46023996C>A | CA399984348 | MAPT | c.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 | |
17 | g.46023996C>G | CA399984350 | MAPT | c.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 | |
17 | g.46023996C>T | CA399984349 | MAPT | c.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 | |
17 | g.46023997C>A | CA500371408 | MAPT | c.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 | |
17 | g.46023997C>G | CA500371407 | MAPT | c.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 | |
17 | g.46023997C>T | CA500371409 | MAPT | c.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 |
17 | g.46023998A= | CA2262106911 | MAPT | c.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= | |
17 | g.46023998A>C | CA399984351 | MAPT | c.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 | |
17 | g.46023998A>G | CA8618251 | MAPT | c.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 |
17 | g.46023998A>T | CA399984352 | MAPT | c.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 | |
17 | g.46023999A>C | CA399984353 | MAPT | c.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 | |
17 | g.46023999A>G | CA399984354 | MAPT | c.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 | |
17 | g.46023999A>T | CA399984355 | MAPT | c.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 | |
17 | g.46024003_46024006del | CA2638368845 | MAPT | c.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 |
17 | g.46024000G>A | CA500371413 | MAPT | c.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 | |
17 | g.46024000G>C | CA399984356 | MAPT | c.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 | |
17 | g.46024000G>T | CA399984357 | MAPT | c.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 | |
17 | g.46024001A>C | CA399984358 | MAPT | c.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 | |
17 | g.46024001A>G | CA399984359 | MAPT | c.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 | |
17 | g.46024001A>T | CA399984360 | MAPT | c.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 | |
17 | g.46024002C>A | CA399984361 | MAPT | c.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 | |
17 | g.46024002C= | CA2262106912 | MAPT | c.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= | |
17 | g.46024002C>G | CA399984363 | MAPT | c.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 |
17 | g.46024002C>T | CA399984362 | MAPT | c.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 |
17 | g.46024003A= | CA2262106913 | MAPT | c.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= | |
17 | g.46024003A>C | CA500371417 | MAPT | c.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 | |
17 | g.46024003A>G | CA500371415 | MAPT | c.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 |
17 | g.46024003A>T | CA500371416 | MAPT | c.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 | |
17 | g.46024004G>A | CA399984364 | MAPT | c.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 | |
17 | g.46024004G>C | CA399984366 | MAPT | c.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 | |
17 | g.46024004G>T | CA399984365 | MAPT | c.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 | |
17 | g.46024005A>C | CA399984367 | MAPT | c.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 | |
17 | g.46024005A>G | CA399984368 | MAPT | c.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 | |
17 | g.46024005A>T | CA399984369 | MAPT | c.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 | |
17 | g.46024006C>A | CA399984370 | MAPT | c.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 | |
17 | g.46024006C= | CA2262106914 | MAPT | c.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= | |
17 | g.46024006C>G | CA399984371 | MAPT | c.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 | |
17 | g.46024006C>T | CA8618252 | MAPT | c.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 |
17 | g.46024007C>A | CA399984372 | MAPT | c.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 | |
17 | g.46024007C>G | CA399984373 | MAPT | c.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 | |
17 | g.46024007C>T | CA399984374 | MAPT | c.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 | |
17 | g.46024008A>C | CA399984375 | MAPT | c.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 | |
17 | g.46024008A>G | CA399984376 | MAPT | c.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 | |
17 | g.46024008A>T | CA399984377 | MAPT | c.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 | |
17 | g.46024009C>A | CA399984378 | MAPT | c.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 | |
17 | g.46024009C= | CA2262106915 | MAPT | c.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= | |
17 | g.46024009C>G | CA399984379 | MAPT | c.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 | |
17 | g.46024009C>T | CA8618253 | MAPT | c.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 |
17 | g.46024011_46024022del | CA2695226186 | MAPT | c.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 | |
17 | g.46024010G>A | CA257189 | MAPT | c.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 |
17 | g.46024010G>C | CA225494 | MAPT | c.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 |
17 | g.46024010G= | CA2262106916 | MAPT | c.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= | |
17 | g.46024010G>T | CA399984380 | MAPT | c.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 | |
17 | g.46024011G>A | CA399984381 | MAPT | c.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 | |
17 | g.46024011G>C | CA399984382 | MAPT | c.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 | |
17 | g.46024011G>T | CA399984383 | MAPT | c.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 | |
17 | g.46024012G>A | CA500371426 | MAPT | c.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 |
17 | g.46024012G>C | CA500371428 | MAPT | c.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 |
17 | g.46024012G= | CA2262106917 | MAPT | c.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= | |
17 | g.46024012G>T | CA500371424 | MAPT | c.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 | |
17 | g.46024013G>A | CA399984384 | MAPT | c.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 |
17 | g.46024013G>C | CA399984385 | MAPT | c.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 | |
17 | g.46024013G>T | CA399984386 | MAPT | c.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 | |
17 | g.46024014C>A | CA399984388 | MAPT | c.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 | |
17 | g.46024014C= | CA2262106918 | MAPT | c.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= | |
17 | g.46024014C>G | CA399984387 | MAPT | c.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 | |
17 | g.46024014C>T | CA8618254 | MAPT | c.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 |
17 | g.46024015G>A | CA8618255 | MAPT | c.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 |
17 | g.46024015G>C | CA500371431 | MAPT | c.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 | |
17 | g.46024015G= | CA2262106919 | MAPT | c.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= | |
17 | g.46024015G>T | CA500371430 | MAPT | c.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 | |
17 | g.46024016G>A | CA399984389 | MAPT | c.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 |
17 | g.46024016G>C | CA399984390 | MAPT | c.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 | |
17 | g.46024016G>T | CA399984391 | MAPT | c.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 | |
17 | g.46024017A>C | CA399984392 | MAPT | c.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 | |
17 | g.46024017A>G | CA399984393 | MAPT | c.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 | |
17 | g.46024017A>T | CA399984394 | MAPT | c.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 | |
17 | g.46024018G>A | CA8618256 | MAPT | c.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 |
17 | g.46024018G>C | CA399984395 | MAPT | c.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 | |
17 | g.46024018G= | CA2262106920 | MAPT | c.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= | |
17 | g.46024018G>T | CA399984396 | MAPT | c.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 |
17 | g.46024019A= | CA2262106921 | MAPT | c.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= | |
17 | g.46024019A>C | CA399984397 | MAPT | c.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 | |
17 | g.46024019A>G | CA291117944 | MAPT | c.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 |
17 | g.46024019A>T | CA399984398 | MAPT | c.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 | |
17 | g.46024020T>A | CA399984399 | MAPT | c.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 | |
17 | g.46024020T>C | CA399984401 | MAPT | c.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 | |
17 | g.46024020T>G | CA399984400 | MAPT | c.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 | |
17 | g.46024021C>A | CA500371434 | MAPT | c.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 | |
17 | g.46024021C= | CA2262106922 | MAPT | c.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= | |
17 | g.46024021C>G | CA399984402 | MAPT | c.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 | |
17 | g.46024021C>T | CA291117949 | MAPT | c.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 |
17 | g.46024022G>A | CA291117964 | MAPT | c.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 |
17 | g.46024022G>C | CA399984403 | MAPT | c.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 | |
17 | g.46024022G= | CA2262106923 | MAPT | c.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= | |
17 | g.46024022G>T | CA399984404 | MAPT | c.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 | |
17 | g.46024023T>A | CA399984405 | MAPT | c.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 | |
17 | g.46024023T>C | CA399984406 | MAPT | c.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 |
17 | g.46024023T>G | CA399984407 | MAPT | c.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 | |
17 | g.46024024G>A | CA500371437 | MAPT | c.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 |
17 | g.46024024G>C | CA500371435 | MAPT | c.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 | |
17 | g.46024024G= | CA2262106924 | MAPT | c.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= | |
17 | g.46024024G>T | CA500371436 | MAPT | c.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 | |
17 | g.46024025T>A | CA399984408 | MAPT | c.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 | |
17 | g.46024025T>C | CA399984409 | MAPT | c.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 | |
17 | g.46024025T>G | CA399984410 | MAPT | c.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 | |
17 | g.46024026A>C | CA399984412 | MAPT | c.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 | |
17 | g.46024026A>G | CA399984413 | MAPT | c.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 | |
17 | g.46024026A>T | CA399984411 | MAPT | c.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 | |
17 | g.46024027C>A | CA399984415 | MAPT | c.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 | |
17 | g.46024027C= | CA2262106925 | MAPT | c.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= | |
17 | g.46024027C>G | CA399984414 | MAPT | c.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 | |
17 | g.46024027C>T | CA8618257 | MAPT | c.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 |
17 | g.46024028A>C | CA399984416 | MAPT | c.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 | |
17 | g.46024028A>G | CA399984417 | MAPT | c.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 | |
17 | g.46024028A>T | CA399984418 | MAPT | c.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 | |
17 | g.46024029A>C | CA399984419 | MAPT | c.1097A>C (p.Lys366Thr) c.1010A>C (p.Lys337Thr) c.1184A>C (p.Lys395Thr) n.410A>C n.368A>C n.602A>C c.2360A>C (p.Lys787Thr) c.2069A>C (p.Lys690Thr) c.1004A>C (p.Lys335Thr) c.1133A>C (p.Lys378Thr) c.2135A>C (p.Lys712Thr) c.917A>C (p.Lys306Thr) c.2189A>C (p.Lys730Thr) c.1091A>C (p.Lys364Thr) n.6376A>C c.2447A>C (p.Lys816Thr) c.2354A>C (p.Lys785Thr) c.2273A>C (p.Lys758Thr) c.2249A>C (p.Lys750Thr) c.2156A>C (p.Lys719Thr) c.1382A>C (p.Lys461Thr) c.1295A>C (p.Lys432Thr) c.1208A>C (p.Lys403Thr) c.772-1088A>C (n.772-1088A>C) n.1015A>C | |
17 | g.46024029A>G | CA399984420 | MAPT | c.1097A>G (p.Lys366Arg) c.1010A>G (p.Lys337Arg) c.1184A>G (p.Lys395Arg) n.410A>G n.368A>G n.602A>G c.2360A>G (p.Lys787Arg) c.2069A>G (p.Lys690Arg) c.1004A>G (p.Lys335Arg) c.1133A>G (p.Lys378Arg) c.2135A>G (p.Lys712Arg) c.917A>G (p.Lys306Arg) c.2189A>G (p.Lys730Arg) c.1091A>G (p.Lys364Arg) n.6376A>G c.2447A>G (p.Lys816Arg) c.2354A>G (p.Lys785Arg) c.2273A>G (p.Lys758Arg) c.2249A>G (p.Lys750Arg) c.2156A>G (p.Lys719Arg) c.1382A>G (p.Lys461Arg) c.1295A>G (p.Lys432Arg) c.1208A>G (p.Lys403Arg) c.772-1088A>G (n.772-1088A>G) n.1015A>G | |
17 | g.46024029A>T | CA399984421 | MAPT | c.1097A>T (p.Lys366Met) c.1010A>T (p.Lys337Met) c.1184A>T (p.Lys395Met) n.410A>T n.368A>T n.602A>T c.2360A>T (p.Lys787Met) c.2069A>T (p.Lys690Met) c.1004A>T (p.Lys335Met) c.1133A>T (p.Lys378Met) c.2135A>T (p.Lys712Met) c.917A>T (p.Lys306Met) c.2189A>T (p.Lys730Met) c.1091A>T (p.Lys364Met) n.6376A>T c.2447A>T (p.Lys816Met) c.2354A>T (p.Lys785Met) c.2273A>T (p.Lys758Met) c.2249A>T (p.Lys750Met) c.2156A>T (p.Lys719Met) c.1382A>T (p.Lys461Met) c.1295A>T (p.Lys432Met) c.1208A>T (p.Lys403Met) c.772-1088A>T (n.772-1088A>T) n.1015A>T | |
17 | g.46024030G>A | CA500371449 | MAPT | c.1098G>A (p.Lys366=) c.1011G>A (p.Lys337=) c.1185G>A (p.Lys395=) n.411G>A n.369G>A n.603G>A c.2361G>A (p.Lys787=) c.2070G>A (p.Lys690=) c.1005G>A (p.Lys335=) c.1134G>A (p.Lys378=) c.2136G>A (p.Lys712=) c.918G>A (p.Lys306=) c.2190G>A (p.Lys730=) c.1092G>A (p.Lys364=) n.6377G>A c.2448G>A (p.Lys816=) c.2355G>A (p.Lys785=) c.2274G>A (p.Lys758=) c.2250G>A (p.Lys750=) c.2157G>A (p.Lys719=) c.1383G>A (p.Lys461=) c.1296G>A (p.Lys432=) c.1209G>A (p.Lys403=) c.772-1087G>A (n.772-1087G>A) n.1016G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.46024030G>C | CA399984422 | MAPT | c.1098G>C (p.Lys366Asn) c.1011G>C (p.Lys337Asn) c.1185G>C (p.Lys395Asn) n.411G>C n.369G>C n.603G>C c.2361G>C (p.Lys787Asn) c.2070G>C (p.Lys690Asn) c.1005G>C (p.Lys335Asn) c.1134G>C (p.Lys378Asn) c.2136G>C (p.Lys712Asn) c.918G>C (p.Lys306Asn) c.2190G>C (p.Lys730Asn) c.1092G>C (p.Lys364Asn) n.6377G>C c.2448G>C (p.Lys816Asn) c.2355G>C (p.Lys785Asn) c.2274G>C (p.Lys758Asn) c.2250G>C (p.Lys750Asn) c.2157G>C (p.Lys719Asn) c.1383G>C (p.Lys461Asn) c.1296G>C (p.Lys432Asn) c.1209G>C (p.Lys403Asn) c.772-1087G>C (n.772-1087G>C) n.1016G>C | |
17 | g.46024030G= | CA2262106926 | MAPT | c.1098G= (p.Lys366=) c.1011G= (p.Lys337=) c.1185G= (p.Lys395=) n.411G= n.369G= n.603G= c.2361G= (p.Lys787=) c.2070G= (p.Lys690=) c.1005G= (p.Lys335=) c.1134G= (p.Lys378=) c.2136G= (p.Lys712=) c.918G= (p.Lys306=) c.2190G= (p.Lys730=) c.1092G= (p.Lys364=) n.6377G= c.2448G= (p.Lys816=) c.2355G= (p.Lys785=) c.2274G= (p.Lys758=) c.2250G= (p.Lys750=) c.2157G= (p.Lys719=) c.1383G= (p.Lys461=) c.1296G= (p.Lys432=) c.1209G= (p.Lys403=) c.772-1087G= (n.772-1087G=) n.1016G= | |
17 | g.46024030G>T | CA399984423 | MAPT | c.1098G>T (p.Lys366Asn) c.1011G>T (p.Lys337Asn) c.1185G>T (p.Lys395Asn) n.411G>T n.369G>T n.603G>T c.2361G>T (p.Lys787Asn) c.2070G>T (p.Lys690Asn) c.1005G>T (p.Lys335Asn) c.1134G>T (p.Lys378Asn) c.2136G>T (p.Lys712Asn) c.918G>T (p.Lys306Asn) c.2190G>T (p.Lys730Asn) c.1092G>T (p.Lys364Asn) n.6377G>T c.2448G>T (p.Lys816Asn) c.2355G>T (p.Lys785Asn) c.2274G>T (p.Lys758Asn) c.2250G>T (p.Lys750Asn) c.2157G>T (p.Lys719Asn) c.1383G>T (p.Lys461Asn) c.1296G>T (p.Lys432Asn) c.1209G>T (p.Lys403Asn) c.772-1087G>T (n.772-1087G>T) n.1016G>T | |
17 | g.46024031T>A | CA399984424 | MAPT | c.1099T>A (p.Ser367Thr) c.1012T>A (p.Ser338Thr) c.1186T>A (p.Ser396Thr) n.412T>A n.370T>A n.604T>A c.2362T>A (p.Ser788Thr) c.2071T>A (p.Ser691Thr) c.1006T>A (p.Ser336Thr) c.1135T>A (p.Ser379Thr) c.2137T>A (p.Ser713Thr) c.919T>A (p.Ser307Thr) c.2191T>A (p.Ser731Thr) c.1093T>A (p.Ser365Thr) n.6378T>A c.2449T>A (p.Ser817Thr) c.2356T>A (p.Ser786Thr) c.2275T>A (p.Ser759Thr) c.2251T>A (p.Ser751Thr) c.2158T>A (p.Ser720Thr) c.1384T>A (p.Ser462Thr) c.1297T>A (p.Ser433Thr) c.1210T>A (p.Ser404Thr) c.772-1086T>A (n.772-1086T>A) n.1017T>A | |
17 | g.46024031T>C | CA399984425 | MAPT | c.1099T>C (p.Ser367Pro) c.1012T>C (p.Ser338Pro) c.1186T>C (p.Ser396Pro) n.412T>C n.370T>C n.604T>C c.2362T>C (p.Ser788Pro) c.2071T>C (p.Ser691Pro) c.1006T>C (p.Ser336Pro) c.1135T>C (p.Ser379Pro) c.2137T>C (p.Ser713Pro) c.919T>C (p.Ser307Pro) c.2191T>C (p.Ser731Pro) c.1093T>C (p.Ser365Pro) n.6378T>C c.2449T>C (p.Ser817Pro) c.2356T>C (p.Ser786Pro) c.2275T>C (p.Ser759Pro) c.2251T>C (p.Ser751Pro) c.2158T>C (p.Ser720Pro) c.1384T>C (p.Ser462Pro) c.1297T>C (p.Ser433Pro) c.1210T>C (p.Ser404Pro) c.772-1086T>C (n.772-1086T>C) n.1017T>C | |
17 | g.46024031T>G | CA399984426 | MAPT | c.1099T>G (p.Ser367Ala) c.1012T>G (p.Ser338Ala) c.1186T>G (p.Ser396Ala) n.412T>G n.370T>G n.604T>G c.2362T>G (p.Ser788Ala) c.2071T>G (p.Ser691Ala) c.1006T>G (p.Ser336Ala) c.1135T>G (p.Ser379Ala) c.2137T>G (p.Ser713Ala) c.919T>G (p.Ser307Ala) c.2191T>G (p.Ser731Ala) c.1093T>G (p.Ser365Ala) n.6378T>G c.2449T>G (p.Ser817Ala) c.2356T>G (p.Ser786Ala) c.2275T>G (p.Ser759Ala) c.2251T>G (p.Ser751Ala) c.2158T>G (p.Ser720Ala) c.1384T>G (p.Ser462Ala) c.1297T>G (p.Ser433Ala) c.1210T>G (p.Ser404Ala) c.772-1086T>G (n.772-1086T>G) n.1017T>G | |
17 | g.46024032C>A | CA399984429 | MAPT | c.1100C>A (p.Ser367Ter) c.1013C>A (p.Ser338Ter) c.1187C>A (p.Ser396Ter) n.413C>A n.371C>A n.605C>A c.2363C>A (p.Ser788Ter) c.2072C>A (p.Ser691Ter) c.1007C>A (p.Ser336Ter) c.1136C>A (p.Ser379Ter) c.2138C>A (p.Ser713Ter) c.920C>A (p.Ser307Ter) c.2192C>A (p.Ser731Ter) c.1094C>A (p.Ser365Ter) n.6379C>A c.2450C>A (p.Ser817Ter) c.2357C>A (p.Ser786Ter) c.2276C>A (p.Ser759Ter) c.2252C>A (p.Ser751Ter) c.2159C>A (p.Ser720Ter) c.1385C>A (p.Ser462Ter) c.1298C>A (p.Ser433Ter) c.1211C>A (p.Ser404Ter) c.772-1085C>A (n.772-1085C>A) n.1018C>A | |
17 | g.46024032C= | CA2262106927 | MAPT | c.1100C= (p.Ser367=) c.1013C= (p.Ser338=) c.1187C= (p.Ser396=) n.413C= n.371C= n.605C= c.2363C= (p.Ser788=) c.2072C= (p.Ser691=) c.1007C= (p.Ser336=) c.1136C= (p.Ser379=) c.2138C= (p.Ser713=) c.920C= (p.Ser307=) c.2192C= (p.Ser731=) c.1094C= (p.Ser365=) n.6379C= c.2450C= (p.Ser817=) c.2357C= (p.Ser786=) c.2276C= (p.Ser759=) c.2252C= (p.Ser751=) c.2159C= (p.Ser720=) c.1385C= (p.Ser462=) c.1298C= (p.Ser433=) c.1211C= (p.Ser404=) c.772-1085C= (n.772-1085C=) n.1018C= | |
17 | g.46024032C>G | CA399984428 | MAPT | c.1100C>G (p.Ser367Trp) c.1013C>G (p.Ser338Trp) c.1187C>G (p.Ser396Trp) n.413C>G n.371C>G n.605C>G c.2363C>G (p.Ser788Trp) c.2072C>G (p.Ser691Trp) c.1007C>G (p.Ser336Trp) c.1136C>G (p.Ser379Trp) c.2138C>G (p.Ser713Trp) c.920C>G (p.Ser307Trp) c.2192C>G (p.Ser731Trp) c.1094C>G (p.Ser365Trp) n.6379C>G c.2450C>G (p.Ser817Trp) c.2357C>G (p.Ser786Trp) c.2276C>G (p.Ser759Trp) c.2252C>G (p.Ser751Trp) c.2159C>G (p.Ser720Trp) c.1385C>G (p.Ser462Trp) c.1298C>G (p.Ser433Trp) c.1211C>G (p.Ser404Trp) c.772-1085C>G (n.772-1085C>G) n.1018C>G | |
17 | g.46024032C>T | CA399984427 | MAPT | c.1100C>T (p.Ser367Leu) c.1013C>T (p.Ser338Leu) c.1187C>T (p.Ser396Leu) n.413C>T n.371C>T n.605C>T c.2363C>T (p.Ser788Leu) c.2072C>T (p.Ser691Leu) c.1007C>T (p.Ser336Leu) c.1136C>T (p.Ser379Leu) c.2138C>T (p.Ser713Leu) c.920C>T (p.Ser307Leu) c.2192C>T (p.Ser731Leu) c.1094C>T (p.Ser365Leu) n.6379C>T c.2450C>T (p.Ser817Leu) c.2357C>T (p.Ser786Leu) c.2276C>T (p.Ser759Leu) c.2252C>T (p.Ser751Leu) c.2159C>T (p.Ser720Leu) c.1385C>T (p.Ser462Leu) c.1298C>T (p.Ser433Leu) c.1211C>T (p.Ser404Leu) c.772-1085C>T (n.772-1085C>T) n.1018C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.46024032_46024033insCCCC | CA2525340748 | MAPT | c.1100_1101insCCCC (p.Val369AlafsTer?) c.1013_1014insCCCC (p.Val340AlafsTer?) c.1187_1188insCCCC (p.Val398AlafsTer?) n.413_414insCCCC n.371_372insCCCC n.605_606insCCCC c.2363_2364insCCCC (p.Val790AlafsTer?) c.2072_2073insCCCC (p.Val693AlafsTer?) c.1007_1008insCCCC (p.Val338AlafsTer?) c.1136_1137insCCCC (p.Val381AlafsTer?) c.2138_2139insCCCC (p.Val715AlafsTer?) c.920_921insCCCC (p.Val309AlafsTer?) c.2192_2193insCCCC (p.Val733AlafsTer?) c.1094_1095insCCCC (p.Val367AlafsTer?) n.6379_6380insCCCC c.2450_2451insCCCC (p.Val819AlafsTer?) c.2357_2358insCCCC (p.Val788AlafsTer?) c.2276_2277insCCCC (p.Val761AlafsTer?) c.2252_2253insCCCC (p.Val753AlafsTer?) c.2159_2160insCCCC (p.Val722AlafsTer?) c.1385_1386insCCCC (p.Val464AlafsTer?) c.1298_1299insCCCC (p.Val435AlafsTer?) c.1211_1212insCCCC (p.Val406AlafsTer?) c.772-1085_772-1084insCCCC (n.772-1085_772-1084insCCCC) n.1018_1019insCCCC | |
17 | g.46024033G>A | CA8618258 | MAPT | c.1101G>A (p.Ser367=) c.1014G>A (p.Ser338=) c.1188G>A (p.Ser396=) n.414G>A n.372G>A n.606G>A c.2364G>A (p.Ser788=) c.2073G>A (p.Ser691=) c.1008G>A (p.Ser336=) c.1137G>A (p.Ser379=) c.2139G>A (p.Ser713=) c.921G>A (p.Ser307=) c.2193G>A (p.Ser731=) c.1095G>A (p.Ser365=) n.6380G>A c.2451G>A (p.Ser817=) c.2358G>A (p.Ser786=) c.2277G>A (p.Ser759=) c.2253G>A (p.Ser751=) c.2160G>A (p.Ser720=) c.1386G>A (p.Ser462=) c.1299G>A (p.Ser433=) c.1212G>A (p.Ser404=) c.772-1084G>A (n.772-1084G>A) n.1019G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.46024033G>C | CA500371450 | MAPT | c.1101G>C (p.Ser367=) c.1014G>C (p.Ser338=) c.1188G>C (p.Ser396=) n.414G>C n.372G>C n.606G>C c.2364G>C (p.Ser788=) c.2073G>C (p.Ser691=) c.1008G>C (p.Ser336=) c.1137G>C (p.Ser379=) c.2139G>C (p.Ser713=) c.921G>C (p.Ser307=) c.2193G>C (p.Ser731=) c.1095G>C (p.Ser365=) n.6380G>C c.2451G>C (p.Ser817=) c.2358G>C (p.Ser786=) c.2277G>C (p.Ser759=) c.2253G>C (p.Ser751=) c.2160G>C (p.Ser720=) c.1386G>C (p.Ser462=) c.1299G>C (p.Ser433=) c.1212G>C (p.Ser404=) c.772-1084G>C (n.772-1084G>C) n.1019G>C | |
17 | g.46024033G= | CA2262106928 | MAPT | c.1101G= (p.Ser367=) c.1014G= (p.Ser338=) c.1188G= (p.Ser396=) n.414G= n.372G= n.606G= c.2364G= (p.Ser788=) c.2073G= (p.Ser691=) c.1008G= (p.Ser336=) c.1137G= (p.Ser379=) c.2139G= (p.Ser713=) c.921G= (p.Ser307=) c.2193G= (p.Ser731=) c.1095G= (p.Ser365=) n.6380G= c.2451G= (p.Ser817=) c.2358G= (p.Ser786=) c.2277G= (p.Ser759=) c.2253G= (p.Ser751=) c.2160G= (p.Ser720=) c.1386G= (p.Ser462=) c.1299G= (p.Ser433=) c.1212G= (p.Ser404=) c.772-1084G= (n.772-1084G=) n.1019G= | |
17 | g.46024033G>T | CA500371451 | MAPT | c.1101G>T (p.Ser367=) c.1014G>T (p.Ser338=) c.1188G>T (p.Ser396=) n.414G>T n.372G>T n.606G>T c.2364G>T (p.Ser788=) c.2073G>T (p.Ser691=) c.1008G>T (p.Ser336=) c.1137G>T (p.Ser379=) c.2139G>T (p.Ser713=) c.921G>T (p.Ser307=) c.2193G>T (p.Ser731=) c.1095G>T (p.Ser365=) n.6380G>T c.2451G>T (p.Ser817=) c.2358G>T (p.Ser786=) c.2277G>T (p.Ser759=) c.2253G>T (p.Ser751=) c.2160G>T (p.Ser720=) c.1386G>T (p.Ser462=) c.1299G>T (p.Ser433=) c.1212G>T (p.Ser404=) c.772-1084G>T (n.772-1084G>T) n.1019G>T | |
17 | g.46024034C>A | CA399984430 | MAPT | c.1102C>A (p.Pro368Thr) c.1015C>A (p.Pro339Thr) c.1189C>A (p.Pro397Thr) n.415C>A n.373C>A n.607C>A c.2365C>A (p.Pro789Thr) c.2074C>A (p.Pro692Thr) c.1009C>A (p.Pro337Thr) c.1138C>A (p.Pro380Thr) c.2140C>A (p.Pro714Thr) c.922C>A (p.Pro308Thr) c.2194C>A (p.Pro732Thr) c.1096C>A (p.Pro366Thr) n.6381C>A c.2452C>A (p.Pro818Thr) c.2359C>A (p.Pro787Thr) c.2278C>A (p.Pro760Thr) c.2254C>A (p.Pro752Thr) c.2161C>A (p.Pro721Thr) c.1387C>A (p.Pro463Thr) c.1300C>A (p.Pro434Thr) c.1213C>A (p.Pro405Thr) c.772-1083C>A (n.772-1083C>A) n.1020C>A | |
17 | g.46024034C= | CA2262106929 | MAPT | c.1102C= (p.Pro368=) c.1015C= (p.Pro339=) c.1189C= (p.Pro397=) n.415C= n.373C= n.607C= c.2365C= (p.Pro789=) c.2074C= (p.Pro692=) c.1009C= (p.Pro337=) c.1138C= (p.Pro380=) c.2140C= (p.Pro714=) c.922C= (p.Pro308=) c.2194C= (p.Pro732=) c.1096C= (p.Pro366=) n.6381C= c.2452C= (p.Pro818=) c.2359C= (p.Pro787=) c.2278C= (p.Pro760=) c.2254C= (p.Pro752=) c.2161C= (p.Pro721=) c.1387C= (p.Pro463=) c.1300C= (p.Pro434=) c.1213C= (p.Pro405=) c.772-1083C= (n.772-1083C=) n.1020C= | |
17 | g.46024034C>G | CA399984431 | MAPT | c.1102C>G (p.Pro368Ala) c.1015C>G (p.Pro339Ala) c.1189C>G (p.Pro397Ala) n.415C>G n.373C>G n.607C>G c.2365C>G (p.Pro789Ala) c.2074C>G (p.Pro692Ala) c.1009C>G (p.Pro337Ala) c.1138C>G (p.Pro380Ala) c.2140C>G (p.Pro714Ala) c.922C>G (p.Pro308Ala) c.2194C>G (p.Pro732Ala) c.1096C>G (p.Pro366Ala) n.6381C>G c.2452C>G (p.Pro818Ala) c.2359C>G (p.Pro787Ala) c.2278C>G (p.Pro760Ala) c.2254C>G (p.Pro752Ala) c.2161C>G (p.Pro721Ala) c.1387C>G (p.Pro463Ala) c.1300C>G (p.Pro434Ala) c.1213C>G (p.Pro405Ala) c.772-1083C>G (n.772-1083C>G) n.1020C>G | gnomAD v4 |
17 | g.46024034C>T | CA399984432 | MAPT | c.1102C>T (p.Pro368Ser) c.1015C>T (p.Pro339Ser) c.1189C>T (p.Pro397Ser) n.415C>T n.373C>T n.607C>T c.2365C>T (p.Pro789Ser) c.2074C>T (p.Pro692Ser) c.1009C>T (p.Pro337Ser) c.1138C>T (p.Pro380Ser) c.2140C>T (p.Pro714Ser) c.922C>T (p.Pro308Ser) c.2194C>T (p.Pro732Ser) c.1096C>T (p.Pro366Ser) n.6381C>T c.2452C>T (p.Pro818Ser) c.2359C>T (p.Pro787Ser) c.2278C>T (p.Pro760Ser) c.2254C>T (p.Pro752Ser) c.2161C>T (p.Pro721Ser) c.1387C>T (p.Pro463Ser) c.1300C>T (p.Pro434Ser) c.1213C>T (p.Pro405Ser) c.772-1083C>T (n.772-1083C>T) n.1020C>T | dbSNP gnomAD v3 gnomAD v4 |