Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.47795896_47805709del | CA658655622 | FBXO11,MSH6 | c.163_3349+2del c.460_3262+2del n.544_4320+2del c.460_2080+2del c.460_3652+2del c.460_1101+2del c.460_3646+2del c.238-2715_3256+2del c.169+2491_170-6451del (n.169+2491_170-6451del) c.*124+2290_*125-6451del (n.*124+2290_*125-6451del) c.458-2715_*2993+2del c.-443_2740+2del c.-279-2715_2740+2del c.-2637_550+2del c.277_3463+2del | |
2 | g.47798976A= | CA2496048325 | FBXO11,MSH6 | c.696A= (p.Ser232=) c.993A= (p.Ser331=) n.1077A= c.999A= (p.Ser333=) c.627+2913A= (n.627+2913A=) c.150A= (p.Ser50=) c.603A= (p.Ser201=) c.169+9219T= (n.169+9219T=) c.*124+9018T= (n.*124+9018T=) c.*340A= (n.*340A=) c.87A= (p.Ser29=) c.990A= (p.Ser330=) c.-2104A= (n.-2104A=) c.810A= (p.Ser270=) | |
2 | g.47798976A>C | CA426120722 | FBXO11,MSH6 | c.696A>C (p.Ser232=) c.993A>C (p.Ser331=) n.1077A>C c.999A>C (p.Ser333=) c.627+2913A>C (n.627+2913A>C) c.150A>C (p.Ser50=) c.603A>C (p.Ser201=) c.169+9219T>G (n.169+9219T>G) c.*124+9018T>G (n.*124+9018T>G) c.*340A>C (n.*340A>C) c.87A>C (p.Ser29=) c.990A>C (p.Ser330=) c.-2104A>C (n.-2104A>C) c.810A>C (p.Ser270=) | dbSNP |
2 | g.47798976A>G | CA16610940 | FBXO11,MSH6 | c.696A>G (p.Ser232=) c.993A>G (p.Ser331=) n.1077A>G c.999A>G (p.Ser333=) c.627+2913A>G (n.627+2913A>G) c.150A>G (p.Ser50=) c.603A>G (p.Ser201=) c.169+9219T>C (n.169+9219T>C) c.*124+9018T>C (n.*124+9018T>C) c.*340A>G (n.*340A>G) c.87A>G (p.Ser29=) c.990A>G (p.Ser330=) c.-2104A>G (n.-2104A>G) c.810A>G (p.Ser270=) | ClinVar dbSNP gnomAD v4 |
2 | g.47798976A>T | CA426120723 | FBXO11,MSH6 | c.696A>T (p.Ser232=) c.993A>T (p.Ser331=) n.1077A>T c.999A>T (p.Ser333=) c.627+2913A>T (n.627+2913A>T) c.150A>T (p.Ser50=) c.603A>T (p.Ser201=) c.169+9219T>A (n.169+9219T>A) c.*124+9018T>A (n.*124+9018T>A) c.*340A>T (n.*340A>T) c.87A>T (p.Ser29=) c.990A>T (p.Ser330=) c.-2104A>T (n.-2104A>T) c.810A>T (p.Ser270=) | dbSNP |
2 | g.47798977del | CA2586969265 | FBXO11,MSH6 | c.697del (p.Glu233LysfsTer6) c.994del (p.Glu332LysfsTer6) n.1078del c.1000del (p.Glu334LysfsTer6) c.627+2914del (n.627+2914del) c.151del (p.Glu51LysfsTer6) c.604del (p.Glu202LysfsTer6) c.169+9218del (n.169+9218del) c.*124+9017del (n.*124+9017del) c.*341del (n.*341del) c.88del (p.Glu30LysfsTer6) c.991del (p.Glu331LysfsTer6) c.-2103del (n.-2103del) c.811del (p.Glu271LysfsTer6) | |
2 | g.47798977G>A | CA346741119 | FBXO11,MSH6 | c.697G>A (p.Glu233Lys) c.994G>A (p.Glu332Lys) n.1078G>A c.1000G>A (p.Glu334Lys) c.627+2914G>A (n.627+2914G>A) c.151G>A (p.Glu51Lys) c.604G>A (p.Glu202Lys) c.169+9218C>T (n.169+9218C>T) c.*124+9017C>T (n.*124+9017C>T) c.*341G>A (n.*341G>A) c.88G>A (p.Glu30Lys) c.991G>A (p.Glu331Lys) c.-2103G>A (n.-2103G>A) c.811G>A (p.Glu271Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.47798977G>C | CA346741120 | FBXO11,MSH6 | c.697G>C (p.Glu233Gln) c.994G>C (p.Glu332Gln) n.1078G>C c.1000G>C (p.Glu334Gln) c.627+2914G>C (n.627+2914G>C) c.151G>C (p.Glu51Gln) c.604G>C (p.Glu202Gln) c.169+9218C>G (n.169+9218C>G) c.*124+9017C>G (n.*124+9017C>G) c.*341G>C (n.*341G>C) c.88G>C (p.Glu30Gln) c.991G>C (p.Glu331Gln) c.-2103G>C (n.-2103G>C) c.811G>C (p.Glu271Gln) | |
2 | g.47798977G>T | CA346741122 | FBXO11,MSH6 | c.697G>T (p.Glu233Ter) c.994G>T (p.Glu332Ter) n.1078G>T c.1000G>T (p.Glu334Ter) c.627+2914G>T (n.627+2914G>T) c.151G>T (p.Glu51Ter) c.604G>T (p.Glu202Ter) c.169+9218C>A (n.169+9218C>A) c.*124+9017C>A (n.*124+9017C>A) c.*341G>T (n.*341G>T) c.88G>T (p.Glu30Ter) c.991G>T (p.Glu331Ter) c.-2103G>T (n.-2103G>T) c.811G>T (p.Glu271Ter) | COSMIC |
2 | g.47798978A= | CA2496048326 | FBXO11,MSH6 | c.698A= (p.Glu233=) c.995A= (p.Glu332=) n.1079A= c.1001A= (p.Glu334=) c.627+2915A= (n.627+2915A=) c.152A= (p.Glu51=) c.605A= (p.Glu202=) c.169+9217T= (n.169+9217T=) c.*124+9016T= (n.*124+9016T=) c.*342A= (n.*342A=) c.89A= (p.Glu30=) c.992A= (p.Glu331=) c.-2102A= (n.-2102A=) c.812A= (p.Glu271=) | |
2 | g.47798978A>C | CA073698 | FBXO11,MSH6 | c.698A>C (p.Glu233Ala) c.995A>C (p.Glu332Ala) n.1079A>C c.1001A>C (p.Glu334Ala) c.627+2915A>C (n.627+2915A>C) c.152A>C (p.Glu51Ala) c.605A>C (p.Glu202Ala) c.169+9217T>G (n.169+9217T>G) c.*124+9016T>G (n.*124+9016T>G) c.*342A>C (n.*342A>C) c.89A>C (p.Glu30Ala) c.992A>C (p.Glu331Ala) c.-2102A>C (n.-2102A>C) c.812A>C (p.Glu271Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47798978A>G | CA346741127 | FBXO11,MSH6 | c.698A>G (p.Glu233Gly) c.995A>G (p.Glu332Gly) n.1079A>G c.1001A>G (p.Glu334Gly) c.627+2915A>G (n.627+2915A>G) c.152A>G (p.Glu51Gly) c.605A>G (p.Glu202Gly) c.169+9217T>C (n.169+9217T>C) c.*124+9016T>C (n.*124+9016T>C) c.*342A>G (n.*342A>G) c.89A>G (p.Glu30Gly) c.992A>G (p.Glu331Gly) c.-2102A>G (n.-2102A>G) c.812A>G (p.Glu271Gly) | |
2 | g.47798978A>T | CA346741131 | FBXO11,MSH6 | c.698A>T (p.Glu233Val) c.995A>T (p.Glu332Val) n.1079A>T c.1001A>T (p.Glu334Val) c.627+2915A>T (n.627+2915A>T) c.152A>T (p.Glu51Val) c.605A>T (p.Glu202Val) c.169+9217T>A (n.169+9217T>A) c.*124+9016T>A (n.*124+9016T>A) c.*342A>T (n.*342A>T) c.89A>T (p.Glu30Val) c.992A>T (p.Glu331Val) c.-2102A>T (n.-2102A>T) c.812A>T (p.Glu271Val) | dbSNP |
2 | g.47798980dup | CA2580612569 | FBXO11,MSH6 | c.700dup (p.Thr234AsnfsTer15) c.997dup (p.Thr333AsnfsTer15) n.1081dup c.1003dup (p.Thr335AsnfsTer15) c.627+2917dup (n.627+2917dup) c.154dup (p.Thr52AsnfsTer15) c.607dup (p.Thr203AsnfsTer15) c.169+9217dup (n.169+9217dup) c.*124+9016dup (n.*124+9016dup) c.*344dup (n.*344dup) c.91dup (p.Thr31AsnfsTer15) c.994dup (p.Thr332AsnfsTer15) c.-2100dup (n.-2100dup) c.814dup (p.Thr272AsnfsTer15) | ClinVar |
2 | g.47798979A>C | CA346741142 | FBXO11,MSH6 | c.699A>C (p.Glu233Asp) c.996A>C (p.Glu332Asp) n.1080A>C c.1002A>C (p.Glu334Asp) c.627+2916A>C (n.627+2916A>C) c.153A>C (p.Glu51Asp) c.606A>C (p.Glu202Asp) c.169+9216T>G (n.169+9216T>G) c.*124+9015T>G (n.*124+9015T>G) c.*343A>C (n.*343A>C) c.90A>C (p.Glu30Asp) c.993A>C (p.Glu331Asp) c.-2101A>C (n.-2101A>C) c.813A>C (p.Glu271Asp) | ClinVar dbSNP |
2 | g.47798979A>G | CA426120727 | FBXO11,MSH6 | c.699A>G (p.Glu233=) c.996A>G (p.Glu332=) n.1080A>G c.1002A>G (p.Glu334=) c.627+2916A>G (n.627+2916A>G) c.153A>G (p.Glu51=) c.606A>G (p.Glu202=) c.169+9216T>C (n.169+9216T>C) c.*124+9015T>C (n.*124+9015T>C) c.*343A>G (n.*343A>G) c.90A>G (p.Glu30=) c.993A>G (p.Glu331=) c.-2101A>G (n.-2101A>G) c.813A>G (p.Glu271=) | dbSNP |
2 | g.47798979A>T | CA346741137 | FBXO11,MSH6 | c.699A>T (p.Glu233Asp) c.996A>T (p.Glu332Asp) n.1080A>T c.1002A>T (p.Glu334Asp) c.627+2916A>T (n.627+2916A>T) c.153A>T (p.Glu51Asp) c.606A>T (p.Glu202Asp) c.169+9216T>A (n.169+9216T>A) c.*124+9015T>A (n.*124+9015T>A) c.*343A>T (n.*343A>T) c.90A>T (p.Glu30Asp) c.993A>T (p.Glu331Asp) c.-2101A>T (n.-2101A>T) c.813A>T (p.Glu271Asp) | dbSNP |
2 | g.47798980A= | CA2496048327 | FBXO11,MSH6 | c.700A= (p.Thr234=) c.997A= (p.Thr333=) n.1081A= c.1003A= (p.Thr335=) c.627+2917A= (n.627+2917A=) c.154A= (p.Thr52=) c.607A= (p.Thr203=) c.169+9215T= (n.169+9215T=) c.*124+9014T= (n.*124+9014T=) c.*344A= (n.*344A=) c.91A= (p.Thr31=) c.994A= (p.Thr332=) c.-2100A= (n.-2100A=) c.814A= (p.Thr272=) | |
2 | g.47798980A>C | CA346741145 | FBXO11,MSH6 | c.700A>C (p.Thr234Pro) c.997A>C (p.Thr333Pro) n.1081A>C c.1003A>C (p.Thr335Pro) c.627+2917A>C (n.627+2917A>C) c.154A>C (p.Thr52Pro) c.607A>C (p.Thr203Pro) c.169+9215T>G (n.169+9215T>G) c.*124+9014T>G (n.*124+9014T>G) c.*344A>C (n.*344A>C) c.91A>C (p.Thr31Pro) c.994A>C (p.Thr332Pro) c.-2100A>C (n.-2100A>C) c.814A>C (p.Thr272Pro) | ClinVar dbSNP |
2 | g.47798980A>G | CA10615752 | FBXO11,MSH6 | c.700A>G (p.Thr234Ala) c.997A>G (p.Thr333Ala) n.1081A>G c.1003A>G (p.Thr335Ala) c.627+2917A>G (n.627+2917A>G) c.154A>G (p.Thr52Ala) c.607A>G (p.Thr203Ala) c.169+9215T>C (n.169+9215T>C) c.*124+9014T>C (n.*124+9014T>C) c.*344A>G (n.*344A>G) c.91A>G (p.Thr31Ala) c.994A>G (p.Thr332Ala) c.-2100A>G (n.-2100A>G) c.814A>G (p.Thr272Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.47798980A>T | CA346741146 | FBXO11,MSH6 | c.700A>T (p.Thr234Ser) c.997A>T (p.Thr333Ser) n.1081A>T c.1003A>T (p.Thr335Ser) c.627+2917A>T (n.627+2917A>T) c.154A>T (p.Thr52Ser) c.607A>T (p.Thr203Ser) c.169+9215T>A (n.169+9215T>A) c.*124+9014T>A (n.*124+9014T>A) c.*344A>T (n.*344A>T) c.91A>T (p.Thr31Ser) c.994A>T (p.Thr332Ser) c.-2100A>T (n.-2100A>T) c.814A>T (p.Thr272Ser) | |
2 | g.47798980_47798981delinsAC | CA2496048328 | FBXO11,MSH6 | c.700_701delinsAC (p.Thr234=) c.997_998delinsAC (p.Thr333=) n.1081_1082delinsAC c.1003_1004delinsAC (p.Thr335=) c.627+2917_627+2918delinsAC (n.627+2917_627+2918delinsAC) c.154_155delinsAC (p.Thr52=) c.607_608delinsAC (p.Thr203=) c.169+9214_169+9215delinsGT (n.169+9214_169+9215delinsGT) c.*124+9013_*124+9014delinsGT (n.*124+9013_*124+9014delinsGT) c.*344_*345delinsAC (n.*344_*345delinsAC) c.91_92delinsAC (p.Thr31=) c.994_995delinsAC (p.Thr332=) c.-2100_-2099delinsAC (n.-2100_-2099delinsAC) c.814_815delinsAC (p.Thr272=) | |
2 | g.47798981C>A | CA346741149 | FBXO11,MSH6 | c.701C>A (p.Thr234Asn) c.998C>A (p.Thr333Asn) n.1082C>A c.1004C>A (p.Thr335Asn) c.627+2918C>A (n.627+2918C>A) c.155C>A (p.Thr52Asn) c.608C>A (p.Thr203Asn) c.169+9214G>T (n.169+9214G>T) c.*124+9013G>T (n.*124+9013G>T) c.*345C>A (n.*345C>A) c.92C>A (p.Thr31Asn) c.995C>A (p.Thr332Asn) c.-2099C>A (n.-2099C>A) c.815C>A (p.Thr272Asn) | dbSNP |
2 | g.47798981C= | CA2496048329 | FBXO11,MSH6 | c.701C= (p.Thr234=) c.998C= (p.Thr333=) n.1082C= c.1004C= (p.Thr335=) c.627+2918C= (n.627+2918C=) c.155C= (p.Thr52=) c.608C= (p.Thr203=) c.169+9214G= (n.169+9214G=) c.*124+9013G= (n.*124+9013G=) c.*345C= (n.*345C=) c.92C= (p.Thr31=) c.995C= (p.Thr332=) c.-2099C= (n.-2099C=) c.815C= (p.Thr272=) | |
2 | g.47798981C>G | CA16610874 | FBXO11,MSH6 | c.701C>G (p.Thr234Ser) c.998C>G (p.Thr333Ser) n.1082C>G c.1004C>G (p.Thr335Ser) c.627+2918C>G (n.627+2918C>G) c.155C>G (p.Thr52Ser) c.608C>G (p.Thr203Ser) c.169+9214G>C (n.169+9214G>C) c.*124+9013G>C (n.*124+9013G>C) c.*345C>G (n.*345C>G) c.92C>G (p.Thr31Ser) c.995C>G (p.Thr332Ser) c.-2099C>G (n.-2099C>G) c.815C>G (p.Thr272Ser) | ClinVar dbSNP |
2 | g.47798981C>T | CA016780 | FBXO11,MSH6 | c.701C>T (p.Thr234Ile) c.998C>T (p.Thr333Ile) n.1082C>T c.1004C>T (p.Thr335Ile) c.627+2918C>T (n.627+2918C>T) c.155C>T (p.Thr52Ile) c.608C>T (p.Thr203Ile) c.169+9214G>A (n.169+9214G>A) c.*124+9013G>A (n.*124+9013G>A) c.*345C>T (n.*345C>T) c.92C>T (p.Thr31Ile) c.995C>T (p.Thr332Ile) c.-2099C>T (n.-2099C>T) c.815C>T (p.Thr272Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.47798982del | CA16610941 | FBXO11,MSH6 | c.702del (p.Lys235ArgfsTer4) c.999del (p.Lys334ArgfsTer4) n.1083del c.1005del (p.Lys336ArgfsTer4) c.627+2919del (n.627+2919del) c.156del (p.Lys53ArgfsTer4) c.609del (p.Lys204ArgfsTer4) c.169+9214del (n.169+9214del) c.*124+9013del (n.*124+9013del) c.*346del (n.*346del) c.93del (p.Lys32ArgfsTer4) c.996del (p.Lys333ArgfsTer4) c.-2098del (n.-2098del) c.816del (p.Lys273ArgfsTer4) | ClinVar dbSNP |
2 | g.47798982C>A | CA426120731 | FBXO11,MSH6 | c.702C>A (p.Thr234=) c.999C>A (p.Thr333=) n.1083C>A c.1005C>A (p.Thr335=) c.627+2919C>A (n.627+2919C>A) c.156C>A (p.Thr52=) c.609C>A (p.Thr203=) c.169+9213G>T (n.169+9213G>T) c.*124+9012G>T (n.*124+9012G>T) c.*346C>A (n.*346C>A) c.93C>A (p.Thr31=) c.996C>A (p.Thr332=) c.-2098C>A (n.-2098C>A) c.816C>A (p.Thr272=) | dbSNP |
2 | g.47798982C= | CA2496048330 | FBXO11,MSH6 | c.702C= (p.Thr234=) c.999C= (p.Thr333=) n.1083C= c.1005C= (p.Thr335=) c.627+2919C= (n.627+2919C=) c.156C= (p.Thr52=) c.609C= (p.Thr203=) c.169+9213G= (n.169+9213G=) c.*124+9012G= (n.*124+9012G=) c.*346C= (n.*346C=) c.93C= (p.Thr31=) c.996C= (p.Thr332=) c.-2098C= (n.-2098C=) c.816C= (p.Thr272=) | |
2 | g.47798982C>G | CA426120733 | FBXO11,MSH6 | c.702C>G (p.Thr234=) c.999C>G (p.Thr333=) n.1083C>G c.1005C>G (p.Thr335=) c.627+2919C>G (n.627+2919C>G) c.156C>G (p.Thr52=) c.609C>G (p.Thr203=) c.169+9213G>C (n.169+9213G>C) c.*124+9012G>C (n.*124+9012G>C) c.*346C>G (n.*346C>G) c.93C>G (p.Thr31=) c.996C>G (p.Thr332=) c.-2098C>G (n.-2098C>G) c.816C>G (p.Thr272=) | ClinVar dbSNP |
2 | g.47798982C>T | CA426120736 | FBXO11,MSH6 | c.702C>T (p.Thr234=) c.999C>T (p.Thr333=) n.1083C>T c.1005C>T (p.Thr335=) c.627+2919C>T (n.627+2919C>T) c.156C>T (p.Thr52=) c.609C>T (p.Thr203=) c.169+9213G>A (n.169+9213G>A) c.*124+9012G>A (n.*124+9012G>A) c.*346C>T (n.*346C>T) c.93C>T (p.Thr31=) c.996C>T (p.Thr332=) c.-2098C>T (n.-2098C>T) c.816C>T (p.Thr272=) | ClinVar dbSNP |
2 | g.47798983A= | CA2496048331 | FBXO11,MSH6 | c.703A= (p.Lys235=) c.1000A= (p.Lys334=) n.1084A= c.1006A= (p.Lys336=) c.627+2920A= (n.627+2920A=) c.157A= (p.Lys53=) c.610A= (p.Lys204=) c.169+9212T= (n.169+9212T=) c.*124+9011T= (n.*124+9011T=) c.*347A= (n.*347A=) c.94A= (p.Lys32=) c.997A= (p.Lys333=) c.-2097A= (n.-2097A=) c.817A= (p.Lys273=) | |
2 | g.47798983A>C | CA346741170 | FBXO11,MSH6 | c.703A>C (p.Lys235Gln) c.1000A>C (p.Lys334Gln) n.1084A>C c.1006A>C (p.Lys336Gln) c.627+2920A>C (n.627+2920A>C) c.157A>C (p.Lys53Gln) c.610A>C (p.Lys204Gln) c.169+9212T>G (n.169+9212T>G) c.*124+9011T>G (n.*124+9011T>G) c.*347A>C (n.*347A>C) c.94A>C (p.Lys32Gln) c.997A>C (p.Lys333Gln) c.-2097A>C (n.-2097A>C) c.817A>C (p.Lys273Gln) | ClinVar dbSNP |
2 | g.47798983A>G | CA346741175 | FBXO11,MSH6 | c.703A>G (p.Lys235Glu) c.1000A>G (p.Lys334Glu) n.1084A>G c.1006A>G (p.Lys336Glu) c.627+2920A>G (n.627+2920A>G) c.157A>G (p.Lys53Glu) c.610A>G (p.Lys204Glu) c.169+9212T>C (n.169+9212T>C) c.*124+9011T>C (n.*124+9011T>C) c.*347A>G (n.*347A>G) c.94A>G (p.Lys32Glu) c.997A>G (p.Lys333Glu) c.-2097A>G (n.-2097A>G) c.817A>G (p.Lys273Glu) | ClinVar gnomAD v4 |
2 | g.47798983A>T | CA346741173 | FBXO11,MSH6 | c.703A>T (p.Lys235Ter) c.1000A>T (p.Lys334Ter) n.1084A>T c.1006A>T (p.Lys336Ter) c.627+2920A>T (n.627+2920A>T) c.157A>T (p.Lys53Ter) c.610A>T (p.Lys204Ter) c.169+9212T>A (n.169+9212T>A) c.*124+9011T>A (n.*124+9011T>A) c.*347A>T (n.*347A>T) c.94A>T (p.Lys32Ter) c.997A>T (p.Lys333Ter) c.-2097A>T (n.-2097A>T) c.817A>T (p.Lys273Ter) | dbSNP |
2 | g.47798984_47798987del | CA2580067285 | FBXO11,MSH6 | c.704_707del (p.Lys235IlefsTer3) c.1001_1004del (p.Lys334IlefsTer3) n.1085_1088del c.1007_1010del (p.Lys336IlefsTer3) c.627+2921_627+2924del (n.627+2921_627+2924del) c.158_161del (p.Lys53IlefsTer3) c.611_614del (p.Lys204IlefsTer3) c.169+9209_169+9212del (n.169+9209_169+9212del) c.*124+9008_*124+9011del (n.*124+9008_*124+9011del) c.*348_*351del (n.*348_*351del) c.95_98del (p.Lys32IlefsTer3) c.998_1001del (p.Lys333IlefsTer3) c.-2096_-2093del (n.-2096_-2093del) c.818_821del (p.Lys273IlefsTer3) | ClinVar |
2 | g.47798984A= | CA2496048332 | FBXO11,MSH6 | c.704A= (p.Lys235=) c.1001A= (p.Lys334=) n.1085A= c.1007A= (p.Lys336=) c.627+2921A= (n.627+2921A=) c.158A= (p.Lys53=) c.611A= (p.Lys204=) c.169+9211T= (n.169+9211T=) c.*124+9010T= (n.*124+9010T=) c.*348A= (n.*348A=) c.95A= (p.Lys32=) c.998A= (p.Lys333=) c.-2096A= (n.-2096A=) c.818A= (p.Lys273=) | |
2 | g.47798984A>C | CA346741177 | FBXO11,MSH6 | c.704A>C (p.Lys235Thr) c.1001A>C (p.Lys334Thr) n.1085A>C c.1007A>C (p.Lys336Thr) c.627+2921A>C (n.627+2921A>C) c.158A>C (p.Lys53Thr) c.611A>C (p.Lys204Thr) c.169+9211T>G (n.169+9211T>G) c.*124+9010T>G (n.*124+9010T>G) c.*348A>C (n.*348A>C) c.95A>C (p.Lys32Thr) c.998A>C (p.Lys333Thr) c.-2096A>C (n.-2096A>C) c.818A>C (p.Lys273Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.47798984A>G | CA346741180 | FBXO11,MSH6 | c.704A>G (p.Lys235Arg) c.1001A>G (p.Lys334Arg) n.1085A>G c.1007A>G (p.Lys336Arg) c.627+2921A>G (n.627+2921A>G) c.158A>G (p.Lys53Arg) c.611A>G (p.Lys204Arg) c.169+9211T>C (n.169+9211T>C) c.*124+9010T>C (n.*124+9010T>C) c.*348A>G (n.*348A>G) c.95A>G (p.Lys32Arg) c.998A>G (p.Lys333Arg) c.-2096A>G (n.-2096A>G) c.818A>G (p.Lys273Arg) | ClinVar dbSNP COSMIC |
2 | g.47798984A>T | CA346741192 | FBXO11,MSH6 | c.704A>T (p.Lys235Met) c.1001A>T (p.Lys334Met) n.1085A>T c.1007A>T (p.Lys336Met) c.627+2921A>T (n.627+2921A>T) c.158A>T (p.Lys53Met) c.611A>T (p.Lys204Met) c.169+9211T>A (n.169+9211T>A) c.*124+9010T>A (n.*124+9010T>A) c.*348A>T (n.*348A>T) c.95A>T (p.Lys32Met) c.998A>T (p.Lys333Met) c.-2096A>T (n.-2096A>T) c.818A>T (p.Lys273Met) | dbSNP |
2 | g.47798985G>A | CA426120742 | FBXO11,MSH6 | c.705G>A (p.Lys235=) c.1002G>A (p.Lys334=) n.1086G>A c.1008G>A (p.Lys336=) c.627+2922G>A (n.627+2922G>A) c.159G>A (p.Lys53=) c.612G>A (p.Lys204=) c.169+9210C>T (n.169+9210C>T) c.*124+9009C>T (n.*124+9009C>T) c.*349G>A (n.*349G>A) c.96G>A (p.Lys32=) c.999G>A (p.Lys333=) c.-2095G>A (n.-2095G>A) c.819G>A (p.Lys273=) | ClinVar dbSNP |
2 | g.47798985G>C | CA346741197 | FBXO11,MSH6 | c.705G>C (p.Lys235Asn) c.1002G>C (p.Lys334Asn) n.1086G>C c.1008G>C (p.Lys336Asn) c.627+2922G>C (n.627+2922G>C) c.159G>C (p.Lys53Asn) c.612G>C (p.Lys204Asn) c.169+9210C>G (n.169+9210C>G) c.*124+9009C>G (n.*124+9009C>G) c.*349G>C (n.*349G>C) c.96G>C (p.Lys32Asn) c.999G>C (p.Lys333Asn) c.-2095G>C (n.-2095G>C) c.819G>C (p.Lys273Asn) | dbSNP |
2 | g.47798985G= | CA2496048333 | FBXO11,MSH6 | c.705G= (p.Lys235=) c.1002G= (p.Lys334=) n.1086G= c.1008G= (p.Lys336=) c.627+2922G= (n.627+2922G=) c.159G= (p.Lys53=) c.612G= (p.Lys204=) c.169+9210C= (n.169+9210C=) c.*124+9009C= (n.*124+9009C=) c.*349G= (n.*349G=) c.96G= (p.Lys32=) c.999G= (p.Lys333=) c.-2095G= (n.-2095G=) c.819G= (p.Lys273=) | |
2 | g.47798985G>T | CA346741202 | FBXO11,MSH6 | c.705G>T (p.Lys235Asn) c.1002G>T (p.Lys334Asn) n.1086G>T c.1008G>T (p.Lys336Asn) c.627+2922G>T (n.627+2922G>T) c.159G>T (p.Lys53Asn) c.612G>T (p.Lys204Asn) c.169+9210C>A (n.169+9210C>A) c.*124+9009C>A (n.*124+9009C>A) c.*349G>T (n.*349G>T) c.96G>T (p.Lys32Asn) c.999G>T (p.Lys333Asn) c.-2095G>T (n.-2095G>T) c.819G>T (p.Lys273Asn) | ClinVar dbSNP |
2 | g.47798986A= | CA2496048334 | FBXO11,MSH6 | c.706A= (p.Asn236=) c.1003A= (p.Asn335=) n.1087A= c.1009A= (p.Asn337=) c.627+2923A= (n.627+2923A=) c.160A= (p.Asn54=) c.613A= (p.Asn205=) c.169+9209T= (n.169+9209T=) c.*124+9008T= (n.*124+9008T=) c.*350A= (n.*350A=) c.97A= (p.Asn33=) c.1000A= (p.Asn334=) c.-2094A= (n.-2094A=) c.820A= (p.Asn274=) | |
2 | g.47798986A>C | CA067016 | FBXO11,MSH6 | c.706A>C (p.Asn236His) c.1003A>C (p.Asn335His) n.1087A>C c.1009A>C (p.Asn337His) c.627+2923A>C (n.627+2923A>C) c.160A>C (p.Asn54His) c.613A>C (p.Asn205His) c.169+9209T>G (n.169+9209T>G) c.*124+9008T>G (n.*124+9008T>G) c.*350A>C (n.*350A>C) c.97A>C (p.Asn33His) c.1000A>C (p.Asn334His) c.-2094A>C (n.-2094A>C) c.820A>C (p.Asn274His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.47798986A>G | CA346741207 | FBXO11,MSH6 | c.706A>G (p.Asn236Asp) c.1003A>G (p.Asn335Asp) n.1087A>G c.1009A>G (p.Asn337Asp) c.627+2923A>G (n.627+2923A>G) c.160A>G (p.Asn54Asp) c.613A>G (p.Asn205Asp) c.169+9209T>C (n.169+9209T>C) c.*124+9008T>C (n.*124+9008T>C) c.*350A>G (n.*350A>G) c.97A>G (p.Asn33Asp) c.1000A>G (p.Asn334Asp) c.-2094A>G (n.-2094A>G) c.820A>G (p.Asn274Asp) | |
2 | g.47798986A>T | CA346741210 | FBXO11,MSH6 | c.706A>T (p.Asn236Tyr) c.1003A>T (p.Asn335Tyr) n.1087A>T c.1009A>T (p.Asn337Tyr) c.627+2923A>T (n.627+2923A>T) c.160A>T (p.Asn54Tyr) c.613A>T (p.Asn205Tyr) c.169+9209T>A (n.169+9209T>A) c.*124+9008T>A (n.*124+9008T>A) c.*350A>T (n.*350A>T) c.97A>T (p.Asn33Tyr) c.1000A>T (p.Asn334Tyr) c.-2094A>T (n.-2094A>T) c.820A>T (p.Asn274Tyr) | dbSNP |
2 | g.47798987A>C | CA346741215 | FBXO11,MSH6 | c.707A>C (p.Asn236Thr) c.1004A>C (p.Asn335Thr) n.1088A>C c.1010A>C (p.Asn337Thr) c.627+2924A>C (n.627+2924A>C) c.161A>C (p.Asn54Thr) c.614A>C (p.Asn205Thr) c.169+9208T>G (n.169+9208T>G) c.*124+9007T>G (n.*124+9007T>G) c.*351A>C (n.*351A>C) c.98A>C (p.Asn33Thr) c.1001A>C (p.Asn334Thr) c.-2093A>C (n.-2093A>C) c.821A>C (p.Asn274Thr) | ClinVar dbSNP |
2 | g.47798987A>G | CA346741218 | FBXO11,MSH6 | c.707A>G (p.Asn236Ser) c.1004A>G (p.Asn335Ser) n.1088A>G c.1010A>G (p.Asn337Ser) c.627+2924A>G (n.627+2924A>G) c.161A>G (p.Asn54Ser) c.614A>G (p.Asn205Ser) c.169+9208T>C (n.169+9208T>C) c.*124+9007T>C (n.*124+9007T>C) c.*351A>G (n.*351A>G) c.98A>G (p.Asn33Ser) c.1001A>G (p.Asn334Ser) c.-2093A>G (n.-2093A>G) c.821A>G (p.Asn274Ser) | dbSNP gnomAD v4 |