Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.86954635_86954962delinsTTTGGCTTCCAGTCCCTGAGAAAGTGGGGGTGGGGATGGAAATCACTTTTCCAGGAGAGCTGTCTCCTTCGGGCTAGGATGATCAACTTGGCATGGGCTCTGCAAAGTTAGTTTGGAGCGTCCCTCCCCAAGGGGTCCCGCCAGGGGTGGGGGTGGGGGCGCCCACCTGCAGCTGGCTGGAGCAGCCGTACTGGATGAGCGGTGTGAAAGTTGTCAGCTGCAGCTCGGCGTCCGTCTGCAGCTCGTGCCCAACCAGGTTGGGCATCTTGGTCACGTTGTAGCCGAGGTTCTGGCACATGGAGATGCGGATGGGGTCGCAGCGCCGCTC | CA1988811243 | FZD4 | c.124_285+166delinsGAGCGGCGCTGCGACCCCATCCGCATCTCCATGTGCCAGAACCTCGGCTACAACGTGACCAAGATGCCCAACCTGGTTGGGCACGAGCTGCAGACGGACGCCGAGCTGCAGCTGACAACTTTCACACCGCTCATCCAGTACGGCTGCTCCAGCCAGCTGCAGGTGGGCGCCCCCACCCCCACCCCTGGCGGGACCCCTTGGGGAGGGACGCTCCAAACTAACTTTGCAGAGCCCATGCCAAGTTGATCATCCTAGCCCGAAGGAGACAGCTCTCCTGGAAAAGTGATTTCCATCCCCACCCCCACTTTCTCAGGGACTGGAAGCCAAA | |
11 | g.86954638_86954964del | CA1139662113 | FZD4 | c.124_285+165del | ClinVar dbSNP |
11 | g.86954834_86954842delinsCGGTGTGAA | CA1988811412 | FZD4 | c.244_252delinsTTCACACCG (p.Phe82=) | |
11 | g.86954835G>A | CA382018192 | FZD4 | c.251C>T (p.Pro84Leu) | gnomAD v4 |
11 | g.86954835G>C | CA382018193 | FZD4 | c.251C>G (p.Pro84Arg) | |
11 | g.86954835G>T | CA382018194 | FZD4 | c.251C>A (p.Pro84Gln) | |
11 | g.86954835_86954842del | CA225383106 | FZD4 | c.244_251del (p.Phe82AlafsTer?) | dbSNP |
11 | g.86954836G>A | CA6218502 | FZD4 | c.250C>T (p.Pro84Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.86954836G>C | CA382018195 | FZD4 | c.250C>G (p.Pro84Ala) | |
11 | g.86954836G= | CA1988811418 | FZD4 | c.250C= (p.Pro84=) | |
11 | g.86954836G>T | CA382018196 | FZD4 | c.250C>A (p.Pro84Thr) | |
11 | g.86954837del | CA2615458358 | FZD4 | c.249del (p.Pro84ArgfsTer?) | gnomAD v4 |
11 | g.86954837T>A | CA476144875 | FZD4 | c.249A>T (p.Thr83=) | |
11 | g.86954837T>C | CA225383116 | FZD4 | c.249A>G (p.Thr83=) | dbSNP |
11 | g.86954837T>G | CA476144876 | FZD4 | c.249A>C (p.Thr83=) | |
11 | g.86954837T= | CA1988811420 | FZD4 | c.249A= (p.Thr83=) | |
11 | g.86954838G>A | CA382018197 | FZD4 | c.248C>T (p.Thr83Ile) | |
11 | g.86954838G>C | CA382018198 | FZD4 | c.248C>G (p.Thr83Arg) | |
11 | g.86954838G= | CA1988811421 | FZD4 | c.248C= (p.Thr83=) | |
11 | g.86954838G>T | CA382018199 | FZD4 | c.248C>A (p.Thr83Lys) | dbSNP |
11 | g.86954839T>A | CA382018200 | FZD4 | c.247A>T (p.Thr83Ser) | |
11 | g.86954839T>C | CA382018201 | FZD4 | c.247A>G (p.Thr83Ala) | dbSNP |
11 | g.86954839T>G | CA382018202 | FZD4 | c.247A>C (p.Thr83Pro) | |
11 | g.86954839T= | CA1988811424 | FZD4 | c.247A= (p.Thr83=) | |
11 | g.86954840G>A | CA476144877 | FZD4 | c.246C>T (p.Phe82=) | |
11 | g.86954840G>C | CA382018203 | FZD4 | c.246C>G (p.Phe82Leu) | |
11 | g.86954840G= | CA1988811425 | FZD4 | c.246C= (p.Phe82=) | |
11 | g.86954840G>T | CA382018204 | FZD4 | c.246C>A (p.Phe82Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.86954841A>C | CA382018205 | FZD4 | c.245T>G (p.Phe82Cys) | |
11 | g.86954841A>G | CA382018206 | FZD4 | c.245T>C (p.Phe82Ser) | |
11 | g.86954841A>T | CA382018207 | FZD4 | c.245T>A (p.Phe82Tyr) | gnomAD v4 |
11 | g.86954841_86954842delinsC | CA2573050773 | FZD4 | c.244_245delinsG (p.Phe82AlafsTer?) | ClinVar |
11 | g.86954843del | CA2573050788 | FZD4 | c.245del (p.Phe82SerfsTer?) | |
11 | g.86954842A>C | CA382018209 | FZD4 | c.244T>G (p.Phe82Val) | |
11 | g.86954842A>G | CA382018210 | FZD4 | c.244T>C (p.Phe82Leu) | ClinVar dbSNP |
11 | g.86954842A>T | CA382018208 | FZD4 | c.244T>A (p.Phe82Ile) | |
11 | g.86954843A>C | CA476144878 | FZD4 | c.243T>G (p.Thr81=) | |
11 | g.86954843A>G | CA476144879 | FZD4 | c.243T>C (p.Thr81=) | |
11 | g.86954843A>T | CA476144880 | FZD4 | c.243T>A (p.Thr81=) | |
11 | g.86954844G>A | CA6218503 | FZD4 | c.242C>T (p.Thr81Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.86954844G>C | CA382018211 | FZD4 | c.242C>G (p.Thr81Ser) | |
11 | g.86954844G= | CA1988811428 | FZD4 | c.242C= (p.Thr81=) | |
11 | g.86954844G>T | CA382018212 | FZD4 | c.242C>A (p.Thr81Asn) | |
11 | g.86954845T>A | CA382018213 | FZD4 | c.241A>T (p.Thr81Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.86954845T>C | CA6218504 | FZD4 | c.241A>G (p.Thr81Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.86954845T>G | CA382018214 | FZD4 | c.241A>C (p.Thr81Pro) | |
11 | g.86954845T= | CA1988811432 | FZD4 | c.241A= (p.Thr81=) | |
11 | g.86954846T>A | CA476144881 | FZD4 | c.240A>T (p.Thr80=) | |
11 | g.86954846T>C | CA6218505 | FZD4 | c.240A>G (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.86954846T>G | CA476144882 | FZD4 | c.240A>C (p.Thr80=) |