From: Unravelling genetic variants of a swedish family with high risk of prostate cancer
Gene | Locationa | Ref/Alt | SNP-id | HGVS transcript | MMAFb | CADDc | Position | Consequence |
---|---|---|---|---|---|---|---|---|
TET2 | chr4:106196829 | T/G | rs34402524 | NM_001127208.2: c.5162T > G | 0.1234 | 22 | Coding Transcript | Non-synonymous |
NOP16 | chr5:175811094 | C/CAT | rs56989856 | NM_001291305.2: c.546_547insAT | 0.1973 | 22.1 | Coding Transcript | Frameshift |
PRIM2 | chr6:57398226 | T/G | rs77436138 | NC_000006.11: g.57437519T > C | 0.2653 | 21.8 | Coding Transcript | Non-synonymous |
MAFA | chr8:144511953 | ATGGTGG /A | rs141816879 | NM_201589.3: c.618_623del | 0.0777 | 17.43 | Coding Transcript | Inframe deletion |
CACNA1B | chr9:140777299 | G/T | rs71238527 | NM_000718.3: c.494G > T | 0.1791 | 24.7 | Coding Transcript | Non-synonymous |
PSMD13 | chr11:247329 | C/T | rs28927679 | NM_002817.3: c.449 C > T | 0.0106 | 23.4 | Coding Transcript | Non-synonymous |
SMPD1 | chr11:6412853 | G/GC | Na | NM_001318087.1: c.564dup | 0.0170 | 20.9 | Coding Transcript | Frameshift |
KRT18 | chr12:53342968 | C/T | rs76301931 | NM_000224.2: c.11 C > T | 0.1759 | 16.1 | Coding Transcript | Non-synonymous |
KRT18 | chr12:53343318 | C/T | Na | NM_000224.2: c.361 C > T | 0.1235 | 23.3 | Coding Transcript | Non-synonymous |
KRT18 | chr12:53343325 | T/A | Na | NM_000224.2: c.368T > A | 0.0658 | 23.8 | Coding Transcript | Non-synonymous |
MEF2A | chr15:100252709 | CCAGCAG/T | rs72276751 | NM_001365203.1: c.1286_1291del | 0.3553 | 22.2 | Coding Transcript | Inframe deletion |
IL32 | chr16:3119297 | C/CG | rs71818662 | NM_004221.4: c.514dup | 0.3126 | 18.43 | Coding Transcript | Frameshift |
KRT10 | chr17:38975307 | TGCCGCCGTGGCC/T | Na | NM_000421.3: c.1468_1479del | 0.3077 | 20.2 | Coding Transcript | Inframe deletion |
CD3EAP | chr19:45912489 | CAAG/C | rs374686338 | NM_001983.3: c.*441_*443del | 0.2206 | 13.39 | Coding Transcript | Inframe deletion |