| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21845640_21845643delinsA | CA2580085296 | ABCC9 | c.3056_3059delinsT (p.Thr1019_Ser1020delinsMet) n.633_636delinsT c.*2154_*2157delinsT (n.*2154_*2157delinsT) n.2557_2560delinsT c.3005_3008delinsT (p.Thr1002_Ser1003delinsMet) c.1937_1940delinsT (p.Thr646_Ser647delinsMet) c.3017_3020delinsT (p.Thr1006_Ser1007delinsMet) c.2915_2918delinsT (p.Thr972_Ser973delinsMet) c.2189_2192delinsT (p.Thr730_Ser731delinsMet) | ClinVar |
| 12 | g.21845641A= | CA2021315441 | ABCC9 | c.3058T= (p.Ser1020=) n.635T= c.*2156T= (n.*2156T=) n.2559T= c.3007T= (p.Ser1003=) c.1939T= (p.Ser647=) c.3019T= (p.Ser1007=) c.2917T= (p.Ser973=) c.2191T= (p.Ser731=) | |
| 12 | g.21845641A>C | CA384119438 | ABCC9 | c.3058T>G (p.Ser1020Ala) n.635T>G c.*2156T>G (n.*2156T>G) n.2559T>G c.3007T>G (p.Ser1003Ala) c.1939T>G (p.Ser647Ala) c.3019T>G (p.Ser1007Ala) c.2917T>G (p.Ser973Ala) c.2191T>G (p.Ser731Ala) | |
| 12 | g.21845641A>G | CA260091 | ABCC9 | c.3058T>C (p.Ser1020Pro) n.635T>C c.*2156T>C (n.*2156T>C) n.2559T>C c.3007T>C (p.Ser1003Pro) c.1939T>C (p.Ser647Pro) c.3019T>C (p.Ser1007Pro) c.2917T>C (p.Ser973Pro) c.2191T>C (p.Ser731Pro) | ClinVar dbSNP |
| 12 | g.21845641A>T | CA384119442 | ABCC9 | c.3058T>A (p.Ser1020Thr) n.635T>A c.*2156T>A (n.*2156T>A) n.2559T>A c.3007T>A (p.Ser1003Thr) c.1939T>A (p.Ser647Thr) c.3019T>A (p.Ser1007Thr) c.2917T>A (p.Ser973Thr) c.2191T>A (p.Ser731Thr) | |
| 12 | g.21845642T>A | CA478870860 | ABCC9 | c.3057A>T (p.Thr1019=) n.634A>T c.*2155A>T (n.*2155A>T) n.2558A>T c.3006A>T (p.Thr1002=) c.1938A>T (p.Thr646=) c.3018A>T (p.Thr1006=) c.2916A>T (p.Thr972=) c.2190A>T (p.Thr730=) | gnomAD v4 |
| 12 | g.21845642T>C | CA10587740 | ABCC9 | c.3057A>G (p.Thr1019=) n.634A>G c.*2155A>G (n.*2155A>G) n.2558A>G c.3006A>G (p.Thr1002=) c.1938A>G (p.Thr646=) c.3018A>G (p.Thr1006=) c.2916A>G (p.Thr972=) c.2190A>G (p.Thr730=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21845642T>G | CA478870861 | ABCC9 | c.3057A>C (p.Thr1019=) n.634A>C c.*2155A>C (n.*2155A>C) n.2558A>C c.3006A>C (p.Thr1002=) c.1938A>C (p.Thr646=) c.3018A>C (p.Thr1006=) c.2916A>C (p.Thr972=) c.2190A>C (p.Thr730=) | gnomAD v4 |
| 12 | g.21845642T= | CA2021315451 | ABCC9 | c.3057A= (p.Thr1019=) n.634A= c.*2155A= (n.*2155A=) n.2558A= c.3006A= (p.Thr1002=) c.1938A= (p.Thr646=) c.3018A= (p.Thr1006=) c.2916A= (p.Thr972=) c.2190A= (p.Thr730=) | |
| 12 | g.21845643G>A | CA384119447 | ABCC9 | c.3056C>T (p.Thr1019Ile) n.633C>T c.*2154C>T (n.*2154C>T) n.2557C>T c.3005C>T (p.Thr1002Ile) c.1937C>T (p.Thr646Ile) c.3017C>T (p.Thr1006Ile) c.2915C>T (p.Thr972Ile) c.2189C>T (p.Thr730Ile) | |
| 12 | g.21845643G>C | CA384119445 | ABCC9 | c.3056C>G (p.Thr1019Arg) n.633C>G c.*2154C>G (n.*2154C>G) n.2557C>G c.3005C>G (p.Thr1002Arg) c.1937C>G (p.Thr646Arg) c.3017C>G (p.Thr1006Arg) c.2915C>G (p.Thr972Arg) c.2189C>G (p.Thr730Arg) | |
| 12 | g.21845643G>T | CA384119444 | ABCC9 | c.3056C>A (p.Thr1019Lys) n.633C>A c.*2154C>A (n.*2154C>A) n.2557C>A c.3005C>A (p.Thr1002Lys) c.1937C>A (p.Thr646Lys) c.3017C>A (p.Thr1006Lys) c.2915C>A (p.Thr972Lys) c.2189C>A (p.Thr730Lys) | |
| 12 | g.21845643_21845644delinsTC | CA2695216155 | ABCC9 | c.3055_3056delinsGA (p.Thr1019Glu) n.632_633delinsGA c.*2153_*2154delinsGA (n.*2153_*2154delinsGA) n.2556_2557delinsGA c.3004_3005delinsGA (p.Thr1002Glu) c.1936_1937delinsGA (p.Thr646Glu) c.3016_3017delinsGA (p.Thr1006Glu) c.2914_2915delinsGA (p.Thr972Glu) c.2188_2189delinsGA (p.Thr730Glu) | |
| 12 | g.21845644T>A | CA384119452 | ABCC9 | c.3055A>T (p.Thr1019Ser) n.632A>T c.*2153A>T (n.*2153A>T) n.2556A>T c.3004A>T (p.Thr1002Ser) c.1936A>T (p.Thr646Ser) c.3016A>T (p.Thr1006Ser) c.2914A>T (p.Thr972Ser) c.2188A>T (p.Thr730Ser) | |
| 12 | g.21845644T>C | CA384119454 | ABCC9 | c.3055A>G (p.Thr1019Ala) n.632A>G c.*2153A>G (n.*2153A>G) n.2556A>G c.3004A>G (p.Thr1002Ala) c.1936A>G (p.Thr646Ala) c.3016A>G (p.Thr1006Ala) c.2914A>G (p.Thr972Ala) c.2188A>G (p.Thr730Ala) | |
| 12 | g.21845644T>G | CA384119456 | ABCC9 | c.3055A>C (p.Thr1019Pro) n.632A>C c.*2153A>C (n.*2153A>C) n.2556A>C c.3004A>C (p.Thr1002Pro) c.1936A>C (p.Thr646Pro) c.3016A>C (p.Thr1006Pro) c.2914A>C (p.Thr972Pro) c.2188A>C (p.Thr730Pro) | |
| 12 | g.21845645C>A | CA384119458 | ABCC9 | c.3054G>T (p.Trp1018Cys) n.631G>T c.*2152G>T (n.*2152G>T) n.2555G>T c.3003G>T (p.Trp1001Cys) c.1935G>T (p.Trp645Cys) c.3015G>T (p.Trp1005Cys) c.2913G>T (p.Trp971Cys) c.2187G>T (p.Trp729Cys) | |
| 12 | g.21845645C>G | CA384119461 | ABCC9 | c.3054G>C (p.Trp1018Cys) n.631G>C c.*2152G>C (n.*2152G>C) n.2555G>C c.3003G>C (p.Trp1001Cys) c.1935G>C (p.Trp645Cys) c.3015G>C (p.Trp1005Cys) c.2913G>C (p.Trp971Cys) c.2187G>C (p.Trp729Cys) | |
| 12 | g.21845645C>T | CA384119476 | ABCC9 | c.3054G>A (p.Trp1018Ter) n.631G>A c.*2152G>A (n.*2152G>A) n.2555G>A c.3003G>A (p.Trp1001Ter) c.1935G>A (p.Trp645Ter) c.3015G>A (p.Trp1005Ter) c.2913G>A (p.Trp971Ter) c.2187G>A (p.Trp729Ter) | |
| 12 | g.21845646C>A | CA384119492 | ABCC9 | c.3053G>T (p.Trp1018Leu) n.630G>T c.*2151G>T (n.*2151G>T) n.2554G>T c.3002G>T (p.Trp1001Leu) c.1934G>T (p.Trp645Leu) c.3014G>T (p.Trp1005Leu) c.2912G>T (p.Trp971Leu) c.2186G>T (p.Trp729Leu) | |
| 12 | g.21845646C>G | CA384119481 | ABCC9 | c.3053G>C (p.Trp1018Ser) n.630G>C c.*2151G>C (n.*2151G>C) n.2554G>C c.3002G>C (p.Trp1001Ser) c.1934G>C (p.Trp645Ser) c.3014G>C (p.Trp1005Ser) c.2912G>C (p.Trp971Ser) c.2186G>C (p.Trp729Ser) | |
| 12 | g.21845646C>T | CA384119478 | ABCC9 | c.3053G>A (p.Trp1018Ter) n.630G>A c.*2151G>A (n.*2151G>A) n.2554G>A c.3002G>A (p.Trp1001Ter) c.1934G>A (p.Trp645Ter) c.3014G>A (p.Trp1005Ter) c.2912G>A (p.Trp971Ter) c.2186G>A (p.Trp729Ter) | |
| 12 | g.21845647A>C | CA384119497 | ABCC9 | c.3052T>G (p.Trp1018Gly) n.629T>G c.*2150T>G (n.*2150T>G) n.2553T>G c.3001T>G (p.Trp1001Gly) c.1933T>G (p.Trp645Gly) c.3013T>G (p.Trp1005Gly) c.2911T>G (p.Trp971Gly) c.2185T>G (p.Trp729Gly) | |
| 12 | g.21845647A>G | CA384119505 | ABCC9 | c.3052T>C (p.Trp1018Arg) n.629T>C c.*2150T>C (n.*2150T>C) n.2553T>C c.3001T>C (p.Trp1001Arg) c.1933T>C (p.Trp645Arg) c.3013T>C (p.Trp1005Arg) c.2911T>C (p.Trp971Arg) c.2185T>C (p.Trp729Arg) | |
| 12 | g.21845647A>T | CA384119507 | ABCC9 | c.3052T>A (p.Trp1018Arg) n.629T>A c.*2150T>A (n.*2150T>A) n.2553T>A c.3001T>A (p.Trp1001Arg) c.1933T>A (p.Trp645Arg) c.3013T>A (p.Trp1005Arg) c.2911T>A (p.Trp971Arg) c.2185T>A (p.Trp729Arg) | |
| 12 | g.21845648T>A | CA478870864 | ABCC9 | c.3051A>T (p.Thr1017=) n.628A>T c.*2149A>T (n.*2149A>T) n.2552A>T c.3000A>T (p.Thr1000=) c.1932A>T (p.Thr644=) c.3012A>T (p.Thr1004=) c.2910A>T (p.Thr970=) c.2184A>T (p.Thr728=) | dbSNP |
| 12 | g.21845648T>C | CA478870865 | ABCC9 | c.3051A>G (p.Thr1017=) n.628A>G c.*2149A>G (n.*2149A>G) n.2552A>G c.3000A>G (p.Thr1000=) c.1932A>G (p.Thr644=) c.3012A>G (p.Thr1004=) c.2910A>G (p.Thr970=) c.2184A>G (p.Thr728=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21845648T>G | CA478870867 | ABCC9 | c.3051A>C (p.Thr1017=) n.628A>C c.*2149A>C (n.*2149A>C) n.2552A>C c.3000A>C (p.Thr1000=) c.1932A>C (p.Thr644=) c.3012A>C (p.Thr1004=) c.2910A>C (p.Thr970=) c.2184A>C (p.Thr728=) | |
| 12 | g.21845648T= | CA2021315459 | ABCC9 | c.3051A= (p.Thr1017=) n.628A= c.*2149A= (n.*2149A=) n.2552A= c.3000A= (p.Thr1000=) c.1932A= (p.Thr644=) c.3012A= (p.Thr1004=) c.2910A= (p.Thr970=) c.2184A= (p.Thr728=) | |
| 12 | g.21845649G>A | CA384119509 | ABCC9 | c.3050C>T (p.Thr1017Ile) n.627C>T c.*2148C>T (n.*2148C>T) n.2551C>T c.2999C>T (p.Thr1000Ile) c.1931C>T (p.Thr644Ile) c.3011C>T (p.Thr1004Ile) c.2909C>T (p.Thr970Ile) c.2183C>T (p.Thr728Ile) | |
| 12 | g.21845649G>C | CA384119510 | ABCC9 | c.3050C>G (p.Thr1017Arg) n.627C>G c.*2148C>G (n.*2148C>G) n.2551C>G c.2999C>G (p.Thr1000Arg) c.1931C>G (p.Thr644Arg) c.3011C>G (p.Thr1004Arg) c.2909C>G (p.Thr970Arg) c.2183C>G (p.Thr728Arg) | |
| 12 | g.21845649G>T | CA384119511 | ABCC9 | c.3050C>A (p.Thr1017Lys) n.627C>A c.*2148C>A (n.*2148C>A) n.2551C>A c.2999C>A (p.Thr1000Lys) c.1931C>A (p.Thr644Lys) c.3011C>A (p.Thr1004Lys) c.2909C>A (p.Thr970Lys) c.2183C>A (p.Thr728Lys) | COSMIC COSMIC |
| 12 | g.21845650T>A | CA384119523 | ABCC9 | c.3049A>T (p.Thr1017Ser) n.626A>T c.*2147A>T (n.*2147A>T) n.2550A>T c.2998A>T (p.Thr1000Ser) c.1930A>T (p.Thr644Ser) c.3010A>T (p.Thr1004Ser) c.2908A>T (p.Thr970Ser) c.2182A>T (p.Thr728Ser) | |
| 12 | g.21845650T>C | CA384119520 | ABCC9 | c.3049A>G (p.Thr1017Ala) n.626A>G c.*2147A>G (n.*2147A>G) n.2550A>G c.2998A>G (p.Thr1000Ala) c.1930A>G (p.Thr644Ala) c.3010A>G (p.Thr1004Ala) c.2908A>G (p.Thr970Ala) c.2182A>G (p.Thr728Ala) | |
| 12 | g.21845650T>G | CA384119514 | ABCC9 | c.3049A>C (p.Thr1017Pro) n.626A>C c.*2147A>C (n.*2147A>C) n.2550A>C c.2998A>C (p.Thr1000Pro) c.1930A>C (p.Thr644Pro) c.3010A>C (p.Thr1004Pro) c.2908A>C (p.Thr970Pro) c.2182A>C (p.Thr728Pro) | |
| 12 | g.21845651G>A | CA478870868 | ABCC9 | c.3048C>T (p.Ala1016=) n.625C>T c.*2146C>T (n.*2146C>T) n.2549C>T c.2997C>T (p.Ala999=) c.1929C>T (p.Ala643=) c.3009C>T (p.Ala1003=) c.2907C>T (p.Ala969=) c.2181C>T (p.Ala727=) | |
| 12 | g.21845651G>C | CA478870869 | ABCC9 | c.3048C>G (p.Ala1016=) n.625C>G c.*2146C>G (n.*2146C>G) n.2549C>G c.2997C>G (p.Ala999=) c.1929C>G (p.Ala643=) c.3009C>G (p.Ala1003=) c.2907C>G (p.Ala969=) c.2181C>G (p.Ala727=) | |
| 12 | g.21845651G>T | CA478870870 | ABCC9 | c.3048C>A (p.Ala1016=) n.625C>A c.*2146C>A (n.*2146C>A) n.2549C>A c.2997C>A (p.Ala999=) c.1929C>A (p.Ala643=) c.3009C>A (p.Ala1003=) c.2907C>A (p.Ala969=) c.2181C>A (p.Ala727=) | |
| 12 | g.21845652G>A | CA384119526 | ABCC9 | c.3047C>T (p.Ala1016Val) n.624C>T c.*2145C>T (n.*2145C>T) n.2548C>T c.2996C>T (p.Ala999Val) c.1928C>T (p.Ala643Val) c.3008C>T (p.Ala1003Val) c.2906C>T (p.Ala969Val) c.2180C>T (p.Ala727Val) | |
| 12 | g.21845652G>C | CA384119532 | ABCC9 | c.3047C>G (p.Ala1016Gly) n.624C>G c.*2145C>G (n.*2145C>G) n.2548C>G c.2996C>G (p.Ala999Gly) c.1928C>G (p.Ala643Gly) c.3008C>G (p.Ala1003Gly) c.2906C>G (p.Ala969Gly) c.2180C>G (p.Ala727Gly) | |
| 12 | g.21845652G= | CA2021315463 | ABCC9 | c.3047C= (p.Ala1016=) n.624C= c.*2145C= (n.*2145C=) n.2548C= c.2996C= (p.Ala999=) c.1928C= (p.Ala643=) c.3008C= (p.Ala1003=) c.2906C= (p.Ala969=) c.2180C= (p.Ala727=) | |
| 12 | g.21845652G>T | CA384119542 | ABCC9 | c.3047C>A (p.Ala1016Asp) n.624C>A c.*2145C>A (n.*2145C>A) n.2548C>A c.2996C>A (p.Ala999Asp) c.1928C>A (p.Ala643Asp) c.3008C>A (p.Ala1003Asp) c.2906C>A (p.Ala969Asp) c.2180C>A (p.Ala727Asp) | dbSNP |
| 12 | g.21845653C>A | CA384119546 | ABCC9 | c.3046G>T (p.Ala1016Ser) n.623G>T c.*2144G>T (n.*2144G>T) n.2547G>T c.2995G>T (p.Ala999Ser) c.1927G>T (p.Ala643Ser) c.3007G>T (p.Ala1003Ser) c.2905G>T (p.Ala969Ser) c.2179G>T (p.Ala727Ser) | |
| 12 | g.21845653C= | CA2021315469 | ABCC9 | c.3046G= (p.Ala1016=) n.623G= c.*2144G= (n.*2144G=) n.2547G= c.2995G= (p.Ala999=) c.1927G= (p.Ala643=) c.3007G= (p.Ala1003=) c.2905G= (p.Ala969=) c.2179G= (p.Ala727=) | |
| 12 | g.21845653C>G | CA384119549 | ABCC9 | c.3046G>C (p.Ala1016Pro) n.623G>C c.*2144G>C (n.*2144G>C) n.2547G>C c.2995G>C (p.Ala999Pro) c.1927G>C (p.Ala643Pro) c.3007G>C (p.Ala1003Pro) c.2905G>C (p.Ala969Pro) c.2179G>C (p.Ala727Pro) | |
| 12 | g.21845653C>T | CA384119552 | ABCC9 | c.3046G>A (p.Ala1016Thr) n.623G>A c.*2144G>A (n.*2144G>A) n.2547G>A c.2995G>A (p.Ala999Thr) c.1927G>A (p.Ala643Thr) c.3007G>A (p.Ala1003Thr) c.2905G>A (p.Ala969Thr) c.2179G>A (p.Ala727Thr) | dbSNP |
| 12 | g.21845654C>A | CA478870873 | ABCC9 | c.3045G>T (p.Leu1015=) n.622G>T c.*2143G>T (n.*2143G>T) n.2546G>T c.2994G>T (p.Leu998=) c.1926G>T (p.Leu642=) c.3006G>T (p.Leu1002=) c.2904G>T (p.Leu968=) c.2178G>T (p.Leu726=) | |
| 12 | g.21845654C>G | CA478870875 | ABCC9 | c.3045G>C (p.Leu1015=) n.622G>C c.*2143G>C (n.*2143G>C) n.2546G>C c.2994G>C (p.Leu998=) c.1926G>C (p.Leu642=) c.3006G>C (p.Leu1002=) c.2904G>C (p.Leu968=) c.2178G>C (p.Leu726=) | |
| 12 | g.21845654C>T | CA478870874 | ABCC9 | c.3045G>A (p.Leu1015=) n.622G>A c.*2143G>A (n.*2143G>A) n.2546G>A c.2994G>A (p.Leu998=) c.1926G>A (p.Leu642=) c.3006G>A (p.Leu1002=) c.2904G>A (p.Leu968=) c.2178G>A (p.Leu726=) | gnomAD v4 |
| 12 | g.21845655A>C | CA384119563 | ABCC9 | c.3044T>G (p.Leu1015Arg) n.621T>G c.*2142T>G (n.*2142T>G) n.2545T>G c.2993T>G (p.Leu998Arg) c.1925T>G (p.Leu642Arg) c.3005T>G (p.Leu1002Arg) c.2903T>G (p.Leu968Arg) c.2177T>G (p.Leu726Arg) |