| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.155808884_155815348del | CA2580077757 | ClinVar | ||
| 7 | g.155811860T>A | CA340843 | SHH | c.263A>T (p.Asp88Val) | ClinVar dbSNP |
| 7 | g.155811860T>C | CA370151122 | SHH | c.263A>G (p.Asp88Gly) | |
| 7 | g.155811860T>G | CA370151124 | SHH | c.263A>C (p.Asp88Ala) | |
| 7 | g.155811860T= | CA1754783511 | SHH | c.263A= (p.Asp88=) | |
| 7 | g.155811861C>A | CA370151128 | SHH | c.262G>T (p.Asp88Tyr) | |
| 7 | g.155811861C= | CA1754783519 | SHH | c.262G= (p.Asp88=) | |
| 7 | g.155811861C>G | CA370151131 | SHH | c.262G>C (p.Asp88His) | |
| 7 | g.155811861C>T | CA4587075 | SHH | c.262G>A (p.Asp88Asn) | dbSNP ExAC gnomAD v2 |
| 7 | g.155811862C>A | CA370151136 | SHH | c.261G>T (p.Lys87Asn) | |
| 7 | g.155811862C= | CA1754783526 | SHH | c.261G= (p.Lys87=) | |
| 7 | g.155811862C>G | CA370151138 | SHH | c.261G>C (p.Lys87Asn) | |
| 7 | g.155811862C>T | CA458893294 | SHH | c.261G>A (p.Lys87=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.155811863T>A | CA370151147 | SHH | c.260A>T (p.Lys87Met) | |
| 7 | g.155811863T>C | CA370151145 | SHH | c.260A>G (p.Lys87Arg) | |
| 7 | g.155811863T>G | CA370151142 | SHH | c.260A>C (p.Lys87Thr) | |
| 7 | g.155811864T>A | CA370151150 | SHH | c.259A>T (p.Lys87Ter) | |
| 7 | g.155811864T>C | CA370151152 | SHH | c.259A>G (p.Lys87Glu) | |
| 7 | g.155811864T>G | CA370151155 | SHH | c.259A>C (p.Lys87Gln) | |
| 7 | g.155811865A>C | CA370151157 | SHH | c.258T>G (p.Phe86Leu) | |
| 7 | g.155811865A>G | CA458893297 | SHH | c.258T>C (p.Phe86=) | |
| 7 | g.155811865A>T | CA370151160 | SHH | c.258T>A (p.Phe86Leu) | |
| 7 | g.155811866A>C | CA370151163 | SHH | c.257T>G (p.Phe86Cys) | |
| 7 | g.155811866A>G | CA370151166 | SHH | c.257T>C (p.Phe86Ser) | |
| 7 | g.155811866A>T | CA370151167 | SHH | c.257T>A (p.Phe86Tyr) | |
| 7 | g.155811867A>C | CA370151172 | SHH | c.256T>G (p.Phe86Val) | |
| 7 | g.155811867A>G | CA370151176 | SHH | c.256T>C (p.Phe86Leu) | |
| 7 | g.155811867A>T | CA370151173 | SHH | c.256T>A (p.Phe86Ile) | |
| 7 | g.155811868T>A | CA458893301 | SHH | c.255A>T (p.Ile85=) | |
| 7 | g.155811868T>C | CA370151178 | SHH | c.255A>G (p.Ile85Met) | COSMIC |
| 7 | g.155811868T>G | CA458893302 | SHH | c.255A>C (p.Ile85=) | |
| 7 | g.155811869A>C | CA370151181 | SHH | c.254T>G (p.Ile85Arg) | |
| 7 | g.155811869A>G | CA370151183 | SHH | c.254T>C (p.Ile85Thr) | ClinVar gnomAD v4 |
| 7 | g.155811869A>T | CA370151186 | SHH | c.254T>A (p.Ile85Lys) | |
| 7 | g.155811870T>A | CA370151189 | SHH | c.253A>T (p.Ile85Leu) | |
| 7 | g.155811870T>C | CA370151194 | SHH | c.253A>G (p.Ile85Val) | gnomAD v4 |
| 7 | g.155811870T>G | CA370151191 | SHH | c.253A>C (p.Ile85Leu) | |
| 7 | g.155811871G>A | CA458893305 | SHH | c.252C>T (p.Ile84=) | |
| 7 | g.155811871G>C | CA370151197 | SHH | c.252C>G (p.Ile84Met) | |
| 7 | g.155811871G>T | CA458893306 | SHH | c.252C>A (p.Ile84=) | gnomAD v4 |
| 7 | g.155811872A>C | CA370151202 | SHH | c.251T>G (p.Ile84Ser) | |
| 7 | g.155811872A>G | CA370151205 | SHH | c.251T>C (p.Ile84Thr) | |
| 7 | g.155811872A>T | CA370151206 | SHH | c.251T>A (p.Ile84Asn) | |
| 7 | g.155811873T>A | CA370151209 | SHH | c.250A>T (p.Ile84Phe) | |
| 7 | g.155811873T>C | CA4587076 | SHH | c.250A>G (p.Ile84Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.155811873T>G | CA370151214 | SHH | c.250A>C (p.Ile84Leu) | |
| 7 | g.155811873T= | CA1754783534 | SHH | c.250A= (p.Ile84=) | |
| 7 | g.155811874G>A | CA458893312 | SHH | c.249C>T (p.Asp83=) | gnomAD v4 |
| 7 | g.155811874G>C | CA370151217 | SHH | c.249C>G (p.Asp83Glu) | |
| 7 | g.155811874G>T | CA370151219 | SHH | c.249C>A (p.Asp83Glu) |