UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.47798973A= | CA2496048323 | FBXO11,MSH6 | c.693A= (p.Ser231=) c.990A= (p.Ser330=) n.1074A= c.996A= (p.Ser332=) c.627+2910A= (n.627+2910A=) c.147A= (p.Ser49=) c.600A= (p.Ser200=) c.169+9222T= (n.169+9222T=) c.*124+9021T= (n.*124+9021T=) c.*337A= (n.*337A=) c.84A= (p.Ser28=) c.987A= (p.Ser329=) c.-2107A= (n.-2107A=) c.807A= (p.Ser269=) | |
| 2 | g.47798973A>C | CA426120710 | FBXO11,MSH6 | c.693A>C (p.Ser231=) c.990A>C (p.Ser330=) n.1074A>C c.996A>C (p.Ser332=) c.627+2910A>C (n.627+2910A>C) c.147A>C (p.Ser49=) c.600A>C (p.Ser200=) c.169+9222T>G (n.169+9222T>G) c.*124+9021T>G (n.*124+9021T>G) c.*337A>C (n.*337A>C) c.84A>C (p.Ser28=) c.987A>C (p.Ser329=) c.-2107A>C (n.-2107A>C) c.807A>C (p.Ser269=) | dbSNP |
| 2 | g.47798973A>G | CA426120711 | FBXO11,MSH6 | c.693A>G (p.Ser231=) c.990A>G (p.Ser330=) n.1074A>G c.996A>G (p.Ser332=) c.627+2910A>G (n.627+2910A>G) c.147A>G (p.Ser49=) c.600A>G (p.Ser200=) c.169+9222T>C (n.169+9222T>C) c.*124+9021T>C (n.*124+9021T>C) c.*337A>G (n.*337A>G) c.84A>G (p.Ser28=) c.987A>G (p.Ser329=) c.-2107A>G (n.-2107A>G) c.807A>G (p.Ser269=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47798973A>T | CA426120712 | FBXO11,MSH6 | c.693A>T (p.Ser231=) c.990A>T (p.Ser330=) n.1074A>T c.996A>T (p.Ser332=) c.627+2910A>T (n.627+2910A>T) c.147A>T (p.Ser49=) c.600A>T (p.Ser200=) c.169+9222T>A (n.169+9222T>A) c.*124+9021T>A (n.*124+9021T>A) c.*337A>T (n.*337A>T) c.84A>T (p.Ser28=) c.987A>T (p.Ser329=) c.-2107A>T (n.-2107A>T) c.807A>T (p.Ser269=) | ClinVar dbSNP |
| 2 | g.47798974T>A | CA346741104 | FBXO11,MSH6 | c.694T>A (p.Ser232Thr) c.991T>A (p.Ser331Thr) n.1075T>A c.997T>A (p.Ser333Thr) c.627+2911T>A (n.627+2911T>A) c.148T>A (p.Ser50Thr) c.601T>A (p.Ser201Thr) c.169+9221A>T (n.169+9221A>T) c.*124+9020A>T (n.*124+9020A>T) c.*338T>A (n.*338T>A) c.85T>A (p.Ser29Thr) c.988T>A (p.Ser330Thr) c.-2106T>A (n.-2106T>A) c.808T>A (p.Ser270Thr) | ClinVar dbSNP gnomAD v4 |
| 2 | g.47798974T>C | CA346741109 | FBXO11,MSH6 | c.694T>C (p.Ser232Pro) c.991T>C (p.Ser331Pro) n.1075T>C c.997T>C (p.Ser333Pro) c.627+2911T>C (n.627+2911T>C) c.148T>C (p.Ser50Pro) c.601T>C (p.Ser201Pro) c.169+9221A>G (n.169+9221A>G) c.*124+9020A>G (n.*124+9020A>G) c.*338T>C (n.*338T>C) c.85T>C (p.Ser29Pro) c.988T>C (p.Ser330Pro) c.-2106T>C (n.-2106T>C) c.808T>C (p.Ser270Pro) | dbSNP |
| 2 | g.47798974T>G | CA346741106 | FBXO11,MSH6 | c.694T>G (p.Ser232Ala) c.991T>G (p.Ser331Ala) n.1075T>G c.997T>G (p.Ser333Ala) c.627+2911T>G (n.627+2911T>G) c.148T>G (p.Ser50Ala) c.601T>G (p.Ser201Ala) c.169+9221A>C (n.169+9221A>C) c.*124+9020A>C (n.*124+9020A>C) c.*338T>G (n.*338T>G) c.85T>G (p.Ser29Ala) c.988T>G (p.Ser330Ala) c.-2106T>G (n.-2106T>G) c.808T>G (p.Ser270Ala) | dbSNP |
| 2 | g.47798975C>A | CA346741112 | FBXO11,MSH6 | c.695C>A (p.Ser232Ter) c.992C>A (p.Ser331Ter) n.1076C>A c.998C>A (p.Ser333Ter) c.627+2912C>A (n.627+2912C>A) c.149C>A (p.Ser50Ter) c.602C>A (p.Ser201Ter) c.169+9220G>T (n.169+9220G>T) c.*124+9019G>T (n.*124+9019G>T) c.*339C>A (n.*339C>A) c.86C>A (p.Ser29Ter) c.989C>A (p.Ser330Ter) c.-2105C>A (n.-2105C>A) c.809C>A (p.Ser270Ter) | dbSNP |
| 2 | g.47798975C= | CA2496048324 | FBXO11,MSH6 | c.695C= (p.Ser232=) c.992C= (p.Ser331=) n.1076C= c.998C= (p.Ser333=) c.627+2912C= (n.627+2912C=) c.149C= (p.Ser50=) c.602C= (p.Ser201=) c.169+9220G= (n.169+9220G=) c.*124+9019G= (n.*124+9019G=) c.*339C= (n.*339C=) c.86C= (p.Ser29=) c.989C= (p.Ser330=) c.-2105C= (n.-2105C=) c.809C= (p.Ser270=) | |
| 2 | g.47798975C>G | CA346741118 | FBXO11,MSH6 | c.695C>G (p.Ser232Ter) c.992C>G (p.Ser331Ter) n.1076C>G c.998C>G (p.Ser333Ter) c.627+2912C>G (n.627+2912C>G) c.149C>G (p.Ser50Ter) c.602C>G (p.Ser201Ter) c.169+9220G>C (n.169+9220G>C) c.*124+9019G>C (n.*124+9019G>C) c.*339C>G (n.*339C>G) c.86C>G (p.Ser29Ter) c.989C>G (p.Ser330Ter) c.-2105C>G (n.-2105C>G) c.809C>G (p.Ser270Ter) | dbSNP |
| 2 | g.47798975C>T | CA346741115 | FBXO11,MSH6 | c.695C>T (p.Ser232Leu) c.992C>T (p.Ser331Leu) n.1076C>T c.998C>T (p.Ser333Leu) c.627+2912C>T (n.627+2912C>T) c.149C>T (p.Ser50Leu) c.602C>T (p.Ser201Leu) c.169+9220G>A (n.169+9220G>A) c.*124+9019G>A (n.*124+9019G>A) c.*339C>T (n.*339C>T) c.86C>T (p.Ser29Leu) c.989C>T (p.Ser330Leu) c.-2105C>T (n.-2105C>T) c.809C>T (p.Ser270Leu) | ClinVar dbSNP gnomAD v4 |
| 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 |