Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.115586956del | CA2688318265 | TRPS1 | c.2700+48del (n.2700+48del) c.2661+48del (n.2661+48del) c.1923+48del (n.1923+48del) c.2673+48del (n.2673+48del) c.2679+48del (n.2679+48del) | gnomAD v4 |
8 | g.115586956T>C | CA4851604 | TRPS1 | c.2700+45A>G (n.2700+45A>G) c.2661+45A>G (n.2661+45A>G) c.1923+45A>G (n.1923+45A>G) c.2673+45A>G (n.2673+45A>G) c.2679+45A>G (n.2679+45A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586956T>G | CA2688318266 | TRPS1 | c.2700+45A>C (n.2700+45A>C) c.2661+45A>C (n.2661+45A>C) c.1923+45A>C (n.1923+45A>C) c.2673+45A>C (n.2673+45A>C) c.2679+45A>C (n.2679+45A>C) | gnomAD v4 |
8 | g.115586956T= | CA1812945198 | TRPS1 | c.2700+45A= (n.2700+45A=) c.2661+45A= (n.2661+45A=) c.1923+45A= (n.1923+45A=) c.2673+45A= (n.2673+45A=) c.2679+45A= (n.2679+45A=) | |
8 | g.115586957G>T | CA2688318267 | TRPS1 | c.2700+44C>A (n.2700+44C>A) c.2661+44C>A (n.2661+44C>A) c.1923+44C>A (n.1923+44C>A) c.2673+44C>A (n.2673+44C>A) c.2679+44C>A (n.2679+44C>A) | gnomAD v4 |
8 | g.115586958C>A | CA2688318268 | TRPS1 | c.2700+43G>T (n.2700+43G>T) c.2661+43G>T (n.2661+43G>T) c.1923+43G>T (n.1923+43G>T) c.2673+43G>T (n.2673+43G>T) c.2679+43G>T (n.2679+43G>T) | gnomAD v4 |
8 | g.115586958C>T | CA2688318269 | TRPS1 | c.2700+43G>A (n.2700+43G>A) c.2661+43G>A (n.2661+43G>A) c.1923+43G>A (n.1923+43G>A) c.2673+43G>A (n.2673+43G>A) c.2679+43G>A (n.2679+43G>A) | gnomAD v4 |
8 | g.115586959C>A | CA2688318270 | TRPS1 | c.2700+42G>T (n.2700+42G>T) c.2661+42G>T (n.2661+42G>T) c.1923+42G>T (n.1923+42G>T) c.2673+42G>T (n.2673+42G>T) c.2679+42G>T (n.2679+42G>T) | gnomAD v4 |
8 | g.115586959C>T | CA2688318271 | TRPS1 | c.2700+42G>A (n.2700+42G>A) c.2661+42G>A (n.2661+42G>A) c.1923+42G>A (n.1923+42G>A) c.2673+42G>A (n.2673+42G>A) c.2679+42G>A (n.2679+42G>A) | gnomAD v4 |
8 | g.115586960C>A | CA2688318272 | TRPS1 | c.2700+41G>T (n.2700+41G>T) c.2661+41G>T (n.2661+41G>T) c.1923+41G>T (n.1923+41G>T) c.2673+41G>T (n.2673+41G>T) c.2679+41G>T (n.2679+41G>T) | gnomAD v4 |
8 | g.115586963C>A | CA2688318273 | TRPS1 | c.2700+38G>T (n.2700+38G>T) c.2661+38G>T (n.2661+38G>T) c.1923+38G>T (n.1923+38G>T) c.2673+38G>T (n.2673+38G>T) c.2679+38G>T (n.2679+38G>T) | gnomAD v4 |
8 | g.115586963C>T | CA2579233426 | TRPS1 | c.2700+38G>A (n.2700+38G>A) c.2661+38G>A (n.2661+38G>A) c.1923+38G>A (n.1923+38G>A) c.2673+38G>A (n.2673+38G>A) c.2679+38G>A (n.2679+38G>A) | gnomAD v4 |
8 | g.115586964A>G | CA2688318275 | TRPS1 | c.2700+37T>C (n.2700+37T>C) c.2661+37T>C (n.2661+37T>C) c.1923+37T>C (n.1923+37T>C) c.2673+37T>C (n.2673+37T>C) c.2679+37T>C (n.2679+37T>C) | gnomAD v4 |
8 | g.115586967del | CA2688318274 | TRPS1 | c.2700+37del (n.2700+37del) c.2661+37del (n.2661+37del) c.1923+37del (n.1923+37del) c.2673+37del (n.2673+37del) c.2679+37del (n.2679+37del) | gnomAD v4 |
8 | g.115586965A= | CA1812945201 | TRPS1 | c.2700+36T= (n.2700+36T=) c.2661+36T= (n.2661+36T=) c.1923+36T= (n.1923+36T=) c.2673+36T= (n.2673+36T=) c.2679+36T= (n.2679+36T=) | |
8 | g.115586965A>T | CA4851605 | TRPS1 | c.2700+36T>A (n.2700+36T>A) c.2661+36T>A (n.2661+36T>A) c.1923+36T>A (n.1923+36T>A) c.2673+36T>A (n.2673+36T>A) c.2679+36T>A (n.2679+36T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586968C= | CA1812945203 | TRPS1 | c.2700+33G= (n.2700+33G=) c.2661+33G= (n.2661+33G=) c.1923+33G= (n.1923+33G=) c.2673+33G= (n.2673+33G=) c.2679+33G= (n.2679+33G=) | |
8 | g.115586968C>T | CA584652295 | TRPS1 | c.2700+33G>A (n.2700+33G>A) c.2661+33G>A (n.2661+33G>A) c.1923+33G>A (n.1923+33G>A) c.2673+33G>A (n.2673+33G>A) c.2679+33G>A (n.2679+33G>A) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115586969A>T | CA2688318277 | TRPS1 | c.2700+32T>A (n.2700+32T>A) c.2661+32T>A (n.2661+32T>A) c.1923+32T>A (n.1923+32T>A) c.2673+32T>A (n.2673+32T>A) c.2679+32T>A (n.2679+32T>A) | gnomAD v4 |
8 | g.115586971del | CA2688318276 | TRPS1 | c.2700+32del (n.2700+32del) c.2661+32del (n.2661+32del) c.1923+32del (n.1923+32del) c.2673+32del (n.2673+32del) c.2679+32del (n.2679+32del) | gnomAD v4 |
8 | g.115586971_115586972delinsAT | CA1812945205 | TRPS1 | c.2700+29_2700+30delinsAT (n.2700+29_2700+30delinsAT) c.2661+29_2661+30delinsAT (n.2661+29_2661+30delinsAT) c.1923+29_1923+30delinsAT (n.1923+29_1923+30delinsAT) c.2673+29_2673+30delinsAT (n.2673+29_2673+30delinsAT) c.2679+29_2679+30delinsAT (n.2679+29_2679+30delinsAT) | |
8 | g.115586972del | CA584652299 | TRPS1 | c.2700+29del (n.2700+29del) c.2661+29del (n.2661+29del) c.1923+29del (n.1923+29del) c.2673+29del (n.2673+29del) c.2679+29del (n.2679+29del) | dbSNP gnomAD v2 |
8 | g.115586972T>A | CA1812945216 | TRPS1 | c.2700+29A>T (n.2700+29A>T) c.2661+29A>T (n.2661+29A>T) c.1923+29A>T (n.1923+29A>T) c.2673+29A>T (n.2673+29A>T) c.2679+29A>T (n.2679+29A>T) | dbSNP |
8 | g.115586972T>C | CA4851607 | TRPS1 | c.2700+29A>G (n.2700+29A>G) c.2661+29A>G (n.2661+29A>G) c.1923+29A>G (n.1923+29A>G) c.2673+29A>G (n.2673+29A>G) c.2679+29A>G (n.2679+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586972T>G | CA4851606 | TRPS1 | c.2700+29A>C (n.2700+29A>C) c.2661+29A>C (n.2661+29A>C) c.1923+29A>C (n.1923+29A>C) c.2673+29A>C (n.2673+29A>C) c.2679+29A>C (n.2679+29A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586972T= | CA1812945215 | TRPS1 | c.2700+29A= (n.2700+29A=) c.2661+29A= (n.2661+29A=) c.1923+29A= (n.1923+29A=) c.2673+29A= (n.2673+29A=) c.2679+29A= (n.2679+29A=) | |
8 | g.115586973G= | CA1812945221 | TRPS1 | c.2700+28C= (n.2700+28C=) c.2661+28C= (n.2661+28C=) c.1923+28C= (n.1923+28C=) c.2673+28C= (n.2673+28C=) c.2679+28C= (n.2679+28C=) | |
8 | g.115586973G>T | CA4851608 | TRPS1 | c.2700+28C>A (n.2700+28C>A) c.2661+28C>A (n.2661+28C>A) c.1923+28C>A (n.1923+28C>A) c.2673+28C>A (n.2673+28C>A) c.2679+28C>A (n.2679+28C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.115586974A>C | CA2688318279 | TRPS1 | c.2700+27T>G (n.2700+27T>G) c.2661+27T>G (n.2661+27T>G) c.1923+27T>G (n.1923+27T>G) c.2673+27T>G (n.2673+27T>G) c.2679+27T>G (n.2679+27T>G) | gnomAD v4 |
8 | g.115586974A>T | CA2688318278 | TRPS1 | c.2700+27T>A (n.2700+27T>A) c.2661+27T>A (n.2661+27T>A) c.1923+27T>A (n.1923+27T>A) c.2673+27T>A (n.2673+27T>A) c.2679+27T>A (n.2679+27T>A) | gnomAD v4 |
8 | g.115586976T>C | CA2579233427 | TRPS1 | c.2700+25A>G (n.2700+25A>G) c.2661+25A>G (n.2661+25A>G) c.1923+25A>G (n.1923+25A>G) c.2673+25A>G (n.2673+25A>G) c.2679+25A>G (n.2679+25A>G) | gnomAD v4 |
8 | g.115586978A>G | CA2603793259 | TRPS1 | c.2700+23T>C (n.2700+23T>C) c.2661+23T>C (n.2661+23T>C) c.1923+23T>C (n.1923+23T>C) c.2673+23T>C (n.2673+23T>C) c.2679+23T>C (n.2679+23T>C) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115586979T>C | CA1812945223 | TRPS1 | c.2700+22A>G (n.2700+22A>G) c.2661+22A>G (n.2661+22A>G) c.1923+22A>G (n.1923+22A>G) c.2673+22A>G (n.2673+22A>G) c.2679+22A>G (n.2679+22A>G) | dbSNP |
8 | g.115586979T= | CA1812945224 | TRPS1 | c.2700+22A= (n.2700+22A=) c.2661+22A= (n.2661+22A=) c.1923+22A= (n.1923+22A=) c.2673+22A= (n.2673+22A=) c.2679+22A= (n.2679+22A=) | |
8 | g.115586980T>C | CA2688318280 | TRPS1 | c.2700+21A>G (n.2700+21A>G) c.2661+21A>G (n.2661+21A>G) c.1923+21A>G (n.1923+21A>G) c.2673+21A>G (n.2673+21A>G) c.2679+21A>G (n.2679+21A>G) | gnomAD v4 |
8 | g.115586982A>T | CA2688318281 | TRPS1 | c.2700+19T>A (n.2700+19T>A) c.2661+19T>A (n.2661+19T>A) c.1923+19T>A (n.1923+19T>A) c.2673+19T>A (n.2673+19T>A) c.2679+19T>A (n.2679+19T>A) | gnomAD v4 |
8 | g.115586985A= | CA1812945226 | TRPS1 | c.2700+16T= (n.2700+16T=) c.2661+16T= (n.2661+16T=) c.1923+16T= (n.1923+16T=) c.2673+16T= (n.2673+16T=) c.2679+16T= (n.2679+16T=) | |
8 | g.115586985A>C | CA584652309 | TRPS1 | c.2700+16T>G (n.2700+16T>G) c.2661+16T>G (n.2661+16T>G) c.1923+16T>G (n.1923+16T>G) c.2673+16T>G (n.2673+16T>G) c.2679+16T>G (n.2679+16T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586987T>C | CA2688318282 | TRPS1 | c.2700+14A>G (n.2700+14A>G) c.2661+14A>G (n.2661+14A>G) c.1923+14A>G (n.1923+14A>G) c.2673+14A>G (n.2673+14A>G) c.2679+14A>G (n.2679+14A>G) | gnomAD v4 |
8 | g.115586988G>A | CA1812945229 | TRPS1 | c.2700+13C>T (n.2700+13C>T) c.2661+13C>T (n.2661+13C>T) c.1923+13C>T (n.1923+13C>T) c.2673+13C>T (n.2673+13C>T) c.2679+13C>T (n.2679+13C>T) | dbSNP |
8 | g.115586988G= | CA1812945228 | TRPS1 | c.2700+13C= (n.2700+13C=) c.2661+13C= (n.2661+13C=) c.1923+13C= (n.1923+13C=) c.2673+13C= (n.2673+13C=) c.2679+13C= (n.2679+13C=) | |
8 | g.115586991A= | CA1812945235 | TRPS1 | c.2700+10T= (n.2700+10T=) c.2661+10T= (n.2661+10T=) c.1923+10T= (n.1923+10T=) c.2673+10T= (n.2673+10T=) c.2679+10T= (n.2679+10T=) | |
8 | g.115586991A>C | CA1812945236 | TRPS1 | c.2700+10T>G (n.2700+10T>G) c.2661+10T>G (n.2661+10T>G) c.1923+10T>G (n.1923+10T>G) c.2673+10T>G (n.2673+10T>G) c.2679+10T>G (n.2679+10T>G) | dbSNP |
8 | g.115586991A>G | CA4851609 | TRPS1 | c.2700+10T>C (n.2700+10T>C) c.2661+10T>C (n.2661+10T>C) c.1923+10T>C (n.1923+10T>C) c.2673+10T>C (n.2673+10T>C) c.2679+10T>C (n.2679+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586991A>T | CA2580845304 | TRPS1 | c.2700+10T>A (n.2700+10T>A) c.2661+10T>A (n.2661+10T>A) c.1923+10T>A (n.1923+10T>A) c.2673+10T>A (n.2673+10T>A) c.2679+10T>A (n.2679+10T>A) | |
8 | g.115586993C>A | CA2688318283 | TRPS1 | c.2700+8G>T (n.2700+8G>T) c.2661+8G>T (n.2661+8G>T) c.1923+8G>T (n.1923+8G>T) c.2673+8G>T (n.2673+8G>T) c.2679+8G>T (n.2679+8G>T) | gnomAD v4 |
8 | g.115586994A= | CA1812945239 | TRPS1 | c.2700+7T= (n.2700+7T=) c.2661+7T= (n.2661+7T=) c.1923+7T= (n.1923+7T=) c.2673+7T= (n.2673+7T=) c.2679+7T= (n.2679+7T=) | |
8 | g.115586994A>G | CA584652312 | TRPS1 | c.2700+7T>C (n.2700+7T>C) c.2661+7T>C (n.2661+7T>C) c.1923+7T>C (n.1923+7T>C) c.2673+7T>C (n.2673+7T>C) c.2679+7T>C (n.2679+7T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115586995T>A | CA1812945245 | TRPS1 | c.2700+6A>T (n.2700+6A>T) c.2661+6A>T (n.2661+6A>T) c.1923+6A>T (n.1923+6A>T) c.2673+6A>T (n.2673+6A>T) c.2679+6A>T (n.2679+6A>T) | dbSNP gnomAD v4 |
8 | g.115586995T>C | CA2688318284 | TRPS1 | c.2700+6A>G (n.2700+6A>G) c.2661+6A>G (n.2661+6A>G) c.1923+6A>G (n.1923+6A>G) c.2673+6A>G (n.2673+6A>G) c.2679+6A>G (n.2679+6A>G) | gnomAD v4 |
8 | g.115586995T= | CA1812945244 | TRPS1 | c.2700+6A= (n.2700+6A=) c.2661+6A= (n.2661+6A=) c.1923+6A= (n.1923+6A=) c.2673+6A= (n.2673+6A=) c.2679+6A= (n.2679+6A=) | |
8 | g.115586997C>A | CA2688318285 | TRPS1 | c.2700+4G>T (n.2700+4G>T) c.2661+4G>T (n.2661+4G>T) c.1923+4G>T (n.1923+4G>T) c.2673+4G>T (n.2673+4G>T) c.2679+4G>T (n.2679+4G>T) | gnomAD v4 |
8 | g.115586998T>C | CA2695210054 | TRPS1 | c.2700+3A>G (n.2700+3A>G) c.2661+3A>G (n.2661+3A>G) c.1923+3A>G (n.1923+3A>G) c.2673+3A>G (n.2673+3A>G) c.2679+3A>G (n.2679+3A>G) | |
8 | g.115586999A>C | CA372064567 | TRPS1 | c.2700+2T>G (n.2700+2T>G) c.2661+2T>G (n.2661+2T>G) c.1923+2T>G (n.1923+2T>G) c.2673+2T>G (n.2673+2T>G) c.2679+2T>G (n.2679+2T>G) | |
8 | g.115586999A>G | CA372064568 | TRPS1 | c.2700+2T>C (n.2700+2T>C) c.2661+2T>C (n.2661+2T>C) c.1923+2T>C (n.1923+2T>C) c.2673+2T>C (n.2673+2T>C) c.2679+2T>C (n.2679+2T>C) | |
8 | g.115586999A>T | CA372064569 | TRPS1 | c.2700+2T>A (n.2700+2T>A) c.2661+2T>A (n.2661+2T>A) c.1923+2T>A (n.1923+2T>A) c.2673+2T>A (n.2673+2T>A) c.2679+2T>A (n.2679+2T>A) | |
8 | g.115587000C>A | CA372064572 | TRPS1 | c.2700+1G>T (n.2700+1G>T) c.2661+1G>T (n.2661+1G>T) c.1923+1G>T (n.1923+1G>T) c.2673+1G>T (n.2673+1G>T) c.2679+1G>T (n.2679+1G>T) | |
8 | g.115587000C= | CA1812945249 | TRPS1 | c.2700+1G= (n.2700+1G=) c.2661+1G= (n.2661+1G=) c.1923+1G= (n.1923+1G=) c.2673+1G= (n.2673+1G=) c.2679+1G= (n.2679+1G=) | |
8 | g.115587000C>G | CA372064571 | TRPS1 | c.2700+1G>C (n.2700+1G>C) c.2661+1G>C (n.2661+1G>C) c.1923+1G>C (n.1923+1G>C) c.2673+1G>C (n.2673+1G>C) c.2679+1G>C (n.2679+1G>C) | |
8 | g.115587000C>T | CA372064570 | TRPS1 | c.2700+1G>A (n.2700+1G>A) c.2661+1G>A (n.2661+1G>A) c.1923+1G>A (n.1923+1G>A) c.2673+1G>A (n.2673+1G>A) c.2679+1G>A (n.2679+1G>A) | ClinVar dbSNP |
8 | g.115587002del | CA2695210055 | TRPS1 | c.2700+1del c.2661+1del c.1923+1del c.2673+1del c.2679+1del | |
8 | g.115587001C>A | CA462631879 | TRPS1 | c.2700G>T (p.Arg900=) c.2661G>T (p.Arg887=) c.2073G>T (p.Arg691=) c.1923G>T (p.Arg641=) c.2673G>T (p.Arg891=) c.2679G>T (p.Arg893=) | |
8 | g.115587001C>G | CA462631880 | TRPS1 | c.2700G>C (p.Arg900=) c.2661G>C (p.Arg887=) c.2073G>C (p.Arg691=) c.1923G>C (p.Arg641=) c.2673G>C (p.Arg891=) c.2679G>C (p.Arg893=) | ClinVar dbSNP |
8 | g.115587001C>T | CA462631881 | TRPS1 | c.2700G>A (p.Arg900=) c.2661G>A (p.Arg887=) c.2073G>A (p.Arg691=) c.1923G>A (p.Arg641=) c.2673G>A (p.Arg891=) c.2679G>A (p.Arg893=) | |
8 | g.115587002C>A | CA372064574 | TRPS1 | c.2699G>T (p.Arg900Leu) c.2660G>T (p.Arg887Leu) c.2072G>T (p.Arg691Leu) c.1922G>T (p.Arg641Leu) c.2672G>T (p.Arg891Leu) c.2678G>T (p.Arg893Leu) | |
8 | g.115587002C>G | CA372064573 | TRPS1 | c.2699G>C (p.Arg900Pro) c.2660G>C (p.Arg887Pro) c.2072G>C (p.Arg691Pro) c.1922G>C (p.Arg641Pro) c.2672G>C (p.Arg891Pro) c.2678G>C (p.Arg893Pro) | dbSNP gnomAD v4 |
8 | g.115587002C>T | CA372064575 | TRPS1 | c.2699G>A (p.Arg900Gln) c.2660G>A (p.Arg887Gln) c.2072G>A (p.Arg691Gln) c.1922G>A (p.Arg641Gln) c.2672G>A (p.Arg891Gln) c.2678G>A (p.Arg893Gln) | |
8 | g.115587003G>A | CA372064576 | TRPS1 | c.2698C>T (p.Arg900Trp) c.2659C>T (p.Arg887Trp) c.2071C>T (p.Arg691Trp) c.1921C>T (p.Arg641Trp) c.2671C>T (p.Arg891Trp) c.2677C>T (p.Arg893Trp) | gnomAD v3 gnomAD v4 |
8 | g.115587003G>C | CA372064577 | TRPS1 | c.2698C>G (p.Arg900Gly) c.2659C>G (p.Arg887Gly) c.2071C>G (p.Arg691Gly) c.1921C>G (p.Arg641Gly) c.2671C>G (p.Arg891Gly) c.2677C>G (p.Arg893Gly) | |
8 | g.115587003G>T | CA462631882 | TRPS1 | c.2698C>A (p.Arg900=) c.2659C>A (p.Arg887=) c.2071C>A (p.Arg691=) c.1921C>A (p.Arg641=) c.2671C>A (p.Arg891=) c.2677C>A (p.Arg893=) | gnomAD v4 |
8 | g.115587004T>A | CA372064578 | TRPS1 | c.2697A>T (p.Leu899Phe) c.2658A>T (p.Leu886Phe) c.2070A>T (p.Leu690Phe) c.1920A>T (p.Leu640Phe) c.2670A>T (p.Leu890Phe) c.2676A>T (p.Leu892Phe) | ClinVar |
8 | g.115587004T>C | CA462658498 | TRPS1 | c.2697A>G (p.Leu899=) c.2658A>G (p.Leu886=) c.2070A>G (p.Leu690=) c.1920A>G (p.Leu640=) c.2670A>G (p.Leu890=) c.2676A>G (p.Leu892=) | gnomAD v4 |
8 | g.115587004T>G | CA372064579 | TRPS1 | c.2697A>C (p.Leu899Phe) c.2658A>C (p.Leu886Phe) c.2070A>C (p.Leu690Phe) c.1920A>C (p.Leu640Phe) c.2670A>C (p.Leu890Phe) c.2676A>C (p.Leu892Phe) | |
8 | g.115587005A>C | CA372064580 | TRPS1 | c.2696T>G (p.Leu899Ter) c.2657T>G (p.Leu886Ter) c.2069T>G (p.Leu690Ter) c.1919T>G (p.Leu640Ter) c.2669T>G (p.Leu890Ter) c.2675T>G (p.Leu892Ter) | |
8 | g.115587005A>G | CA372064581 | TRPS1 | c.2696T>C (p.Leu899Ser) c.2657T>C (p.Leu886Ser) c.2069T>C (p.Leu690Ser) c.1919T>C (p.Leu640Ser) c.2669T>C (p.Leu890Ser) c.2675T>C (p.Leu892Ser) | |
8 | g.115587005A>T | CA372064582 | TRPS1 | c.2696T>A (p.Leu899Ter) c.2657T>A (p.Leu886Ter) c.2069T>A (p.Leu690Ter) c.1919T>A (p.Leu640Ter) c.2669T>A (p.Leu890Ter) c.2675T>A (p.Leu892Ter) | |
8 | g.115587006A>C | CA372064583 | TRPS1 | c.2695T>G (p.Leu899Val) c.2656T>G (p.Leu886Val) c.2068T>G (p.Leu690Val) c.1918T>G (p.Leu640Val) c.2668T>G (p.Leu890Val) c.2674T>G (p.Leu892Val) | |
8 | g.115587006A>G | CA462658500 | TRPS1 | c.2695T>C (p.Leu899=) c.2656T>C (p.Leu886=) c.2068T>C (p.Leu690=) c.1918T>C (p.Leu640=) c.2668T>C (p.Leu890=) c.2674T>C (p.Leu892=) | |
8 | g.115587006A>T | CA372064584 | TRPS1 | c.2695T>A (p.Leu899Ile) c.2656T>A (p.Leu886Ile) c.2068T>A (p.Leu690Ile) c.1918T>A (p.Leu640Ile) c.2668T>A (p.Leu890Ile) c.2674T>A (p.Leu892Ile) | |
8 | g.115587007C>A | CA462658502 | TRPS1 | c.2694G>T (p.Leu898=) c.2655G>T (p.Leu885=) c.2067G>T (p.Leu689=) c.1917G>T (p.Leu639=) c.2667G>T (p.Leu889=) c.2673G>T (p.Leu891=) | |
8 | g.115587007C>G | CA462658503 | TRPS1 | c.2694G>C (p.Leu898=) c.2655G>C (p.Leu885=) c.2067G>C (p.Leu689=) c.1917G>C (p.Leu639=) c.2667G>C (p.Leu889=) c.2673G>C (p.Leu891=) | gnomAD v4 |
8 | g.115587007C>T | CA462658504 | TRPS1 | c.2694G>A (p.Leu898=) c.2655G>A (p.Leu885=) c.2067G>A (p.Leu689=) c.1917G>A (p.Leu639=) c.2667G>A (p.Leu889=) c.2673G>A (p.Leu891=) | |
8 | g.115587008A>C | CA372064585 | TRPS1 | c.2693T>G (p.Leu898Arg) c.2654T>G (p.Leu885Arg) c.2066T>G (p.Leu689Arg) c.1916T>G (p.Leu639Arg) c.2666T>G (p.Leu889Arg) c.2672T>G (p.Leu891Arg) | |
8 | g.115587008A>G | CA372064586 | TRPS1 | c.2693T>C (p.Leu898Pro) c.2654T>C (p.Leu885Pro) c.2066T>C (p.Leu689Pro) c.1916T>C (p.Leu639Pro) c.2666T>C (p.Leu889Pro) c.2672T>C (p.Leu891Pro) | |
8 | g.115587008A>T | CA372064587 | TRPS1 | c.2693T>A (p.Leu898Gln) c.2654T>A (p.Leu885Gln) c.2066T>A (p.Leu689Gln) c.1916T>A (p.Leu639Gln) c.2666T>A (p.Leu889Gln) c.2672T>A (p.Leu891Gln) | |
8 | g.115587009G>A | CA462658507 | TRPS1 | c.2692C>T (p.Leu898=) c.2653C>T (p.Leu885=) c.2065C>T (p.Leu689=) c.1915C>T (p.Leu639=) c.2665C>T (p.Leu889=) c.2671C>T (p.Leu891=) | |
8 | g.115587009G>C | CA372064589 | TRPS1 | c.2692C>G (p.Leu898Val) c.2653C>G (p.Leu885Val) c.2065C>G (p.Leu689Val) c.1915C>G (p.Leu639Val) c.2665C>G (p.Leu889Val) c.2671C>G (p.Leu891Val) | |
8 | g.115587009G>T | CA372064588 | TRPS1 | c.2692C>A (p.Leu898Met) c.2653C>A (p.Leu885Met) c.2065C>A (p.Leu689Met) c.1915C>A (p.Leu639Met) c.2665C>A (p.Leu889Met) c.2671C>A (p.Leu891Met) | |
8 | g.115587010G>A | CA4851610 | TRPS1 | c.2691C>T (p.Ser897=) c.2652C>T (p.Ser884=) c.2064C>T (p.Ser688=) c.1914C>T (p.Ser638=) c.2664C>T (p.Ser888=) c.2670C>T (p.Ser890=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.115587010G>C | CA462658511 | TRPS1 | c.2691C>G (p.Ser897=) c.2652C>G (p.Ser884=) c.2064C>G (p.Ser688=) c.1914C>G (p.Ser638=) c.2664C>G (p.Ser888=) c.2670C>G (p.Ser890=) | |
8 | g.115587010G= | CA1812945251 | TRPS1 | c.2691C= (p.Ser897=) c.2652C= (p.Ser884=) c.2064C= (p.Ser688=) c.1914C= (p.Ser638=) c.2664C= (p.Ser888=) c.2670C= (p.Ser890=) | |
8 | g.115587010G>T | CA462658509 | TRPS1 | c.2691C>A (p.Ser897=) c.2652C>A (p.Ser884=) c.2064C>A (p.Ser688=) c.1914C>A (p.Ser638=) c.2664C>A (p.Ser888=) c.2670C>A (p.Ser890=) | |
8 | g.115587011G>A | CA372064590 | TRPS1 | c.2690C>T (p.Ser897Phe) c.2651C>T (p.Ser884Phe) c.2063C>T (p.Ser688Phe) c.1913C>T (p.Ser638Phe) c.2663C>T (p.Ser888Phe) c.2669C>T (p.Ser890Phe) | COSMIC |
8 | g.115587011G>C | CA372064591 | TRPS1 | c.2690C>G (p.Ser897Cys) c.2651C>G (p.Ser884Cys) c.2063C>G (p.Ser688Cys) c.1913C>G (p.Ser638Cys) c.2663C>G (p.Ser888Cys) c.2669C>G (p.Ser890Cys) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115587011G= | CA1812945259 | TRPS1 | c.2690C= (p.Ser897=) c.2651C= (p.Ser884=) c.2063C= (p.Ser688=) c.1913C= (p.Ser638=) c.2663C= (p.Ser888=) c.2669C= (p.Ser890=) | |
8 | g.115587011G>T | CA4851611 | TRPS1 | c.2690C>A (p.Ser897Tyr) c.2651C>A (p.Ser884Tyr) c.2063C>A (p.Ser688Tyr) c.1913C>A (p.Ser638Tyr) c.2663C>A (p.Ser888Tyr) c.2669C>A (p.Ser890Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.115587012A>C | CA372064592 | TRPS1 | c.2689T>G (p.Ser897Ala) c.2650T>G (p.Ser884Ala) c.2062T>G (p.Ser688Ala) c.1912T>G (p.Ser638Ala) c.2662T>G (p.Ser888Ala) c.2668T>G (p.Ser890Ala) | |
8 | g.115587012A>G | CA372064593 | TRPS1 | c.2689T>C (p.Ser897Pro) c.2650T>C (p.Ser884Pro) c.2062T>C (p.Ser688Pro) c.1912T>C (p.Ser638Pro) c.2662T>C (p.Ser888Pro) c.2668T>C (p.Ser890Pro) | |
8 | g.115587012A>T | CA372064594 | TRPS1 | c.2689T>A (p.Ser897Thr) c.2650T>A (p.Ser884Thr) c.2062T>A (p.Ser688Thr) c.1912T>A (p.Ser638Thr) c.2662T>A (p.Ser888Thr) c.2668T>A (p.Ser890Thr) | |
8 | g.115587013C>A | CA372064595 | TRPS1 | c.2688G>T (p.Gln896His) c.2649G>T (p.Gln883His) c.2061G>T (p.Gln687His) c.1911G>T (p.Gln637His) c.2661G>T (p.Gln887His) c.2667G>T (p.Gln889His) | |
8 | g.115587013C>G | CA372064596 | TRPS1 | c.2688G>C (p.Gln896His) c.2649G>C (p.Gln883His) c.2061G>C (p.Gln687His) c.1911G>C (p.Gln637His) c.2661G>C (p.Gln887His) c.2667G>C (p.Gln889His) | |
8 | g.115587013C>T | CA462658514 | TRPS1 | c.2688G>A (p.Gln896=) c.2649G>A (p.Gln883=) c.2061G>A (p.Gln687=) c.1911G>A (p.Gln637=) c.2661G>A (p.Gln887=) c.2667G>A (p.Gln889=) | |
8 | g.115587014T>A | CA372064597 | TRPS1 | c.2687A>T (p.Gln896Leu) c.2648A>T (p.Gln883Leu) c.2060A>T (p.Gln687Leu) c.1910A>T (p.Gln637Leu) c.2660A>T (p.Gln887Leu) c.2666A>T (p.Gln889Leu) | |
8 | g.115587014T>C | CA372064598 | TRPS1 | c.2687A>G (p.Gln896Arg) c.2648A>G (p.Gln883Arg) c.2060A>G (p.Gln687Arg) c.1910A>G (p.Gln637Arg) c.2660A>G (p.Gln887Arg) c.2666A>G (p.Gln889Arg) | |
8 | g.115587014T>G | CA372064599 | TRPS1 | c.2687A>C (p.Gln896Pro) c.2648A>C (p.Gln883Pro) c.2060A>C (p.Gln687Pro) c.1910A>C (p.Gln637Pro) c.2660A>C (p.Gln887Pro) c.2666A>C (p.Gln889Pro) | |
8 | g.115587015G>A | CA372064601 | TRPS1 | c.2686C>T (p.Gln896Ter) c.2647C>T (p.Gln883Ter) c.2059C>T (p.Gln687Ter) c.1909C>T (p.Gln637Ter) c.2659C>T (p.Gln887Ter) c.2665C>T (p.Gln889Ter) | |
8 | g.115587015G>C | CA372064602 | TRPS1 | c.2686C>G (p.Gln896Glu) c.2647C>G (p.Gln883Glu) c.2059C>G (p.Gln687Glu) c.1909C>G (p.Gln637Glu) c.2659C>G (p.Gln887Glu) c.2665C>G (p.Gln889Glu) | |
8 | g.115587015G>T | CA372064600 | TRPS1 | c.2686C>A (p.Gln896Lys) c.2647C>A (p.Gln883Lys) c.2059C>A (p.Gln687Lys) c.1909C>A (p.Gln637Lys) c.2659C>A (p.Gln887Lys) c.2665C>A (p.Gln889Lys) | |
8 | g.115587016G>A | CA462658515 | TRPS1 | c.2685C>T (p.Ser895=) c.2646C>T (p.Ser882=) c.2058C>T (p.Ser686=) c.1908C>T (p.Ser636=) c.2658C>T (p.Ser886=) c.2664C>T (p.Ser888=) | COSMIC COSMIC |
8 | g.115587016G>C | CA462658517 | TRPS1 | c.2685C>G (p.Ser895=) c.2646C>G (p.Ser882=) c.2058C>G (p.Ser686=) c.1908C>G (p.Ser636=) c.2658C>G (p.Ser886=) c.2664C>G (p.Ser888=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115587016G= | CA1812945263 | TRPS1 | c.2685C= (p.Ser895=) c.2646C= (p.Ser882=) c.2058C= (p.Ser686=) c.1908C= (p.Ser636=) c.2658C= (p.Ser886=) c.2664C= (p.Ser888=) | |
8 | g.115587016G>T | CA462658516 | TRPS1 | c.2685C>A (p.Ser895=) c.2646C>A (p.Ser882=) c.2058C>A (p.Ser686=) c.1908C>A (p.Ser636=) c.2658C>A (p.Ser886=) c.2664C>A (p.Ser888=) | |
8 | g.115587017G>A | CA372064603 | TRPS1 | c.2684C>T (p.Ser895Phe) c.2645C>T (p.Ser882Phe) c.2057C>T (p.Ser686Phe) c.1907C>T (p.Ser636Phe) c.2657C>T (p.Ser886Phe) c.2663C>T (p.Ser888Phe) | |
8 | g.115587017G>C | CA372064604 | TRPS1 | c.2684C>G (p.Ser895Cys) c.2645C>G (p.Ser882Cys) c.2057C>G (p.Ser686Cys) c.1907C>G (p.Ser636Cys) c.2657C>G (p.Ser886Cys) c.2663C>G (p.Ser888Cys) | |
8 | g.115587017G>T | CA372064605 | TRPS1 | c.2684C>A (p.Ser895Tyr) c.2645C>A (p.Ser882Tyr) c.2057C>A (p.Ser686Tyr) c.1907C>A (p.Ser636Tyr) c.2657C>A (p.Ser886Tyr) c.2663C>A (p.Ser888Tyr) | gnomAD v4 |
8 | g.115587018A>C | CA372064606 | TRPS1 | c.2683T>G (p.Ser895Ala) c.2644T>G (p.Ser882Ala) c.2056T>G (p.Ser686Ala) c.1906T>G (p.Ser636Ala) c.2656T>G (p.Ser886Ala) c.2662T>G (p.Ser888Ala) | ClinVar dbSNP |
8 | g.115587018A>G | CA372064607 | TRPS1 | c.2683T>C (p.Ser895Pro) c.2644T>C (p.Ser882Pro) c.2056T>C (p.Ser686Pro) c.1906T>C (p.Ser636Pro) c.2656T>C (p.Ser886Pro) c.2662T>C (p.Ser888Pro) | gnomAD v4 |
8 | g.115587018A>T | CA372064608 | TRPS1 | c.2683T>A (p.Ser895Thr) c.2644T>A (p.Ser882Thr) c.2056T>A (p.Ser686Thr) c.1906T>A (p.Ser636Thr) c.2656T>A (p.Ser886Thr) c.2662T>A (p.Ser888Thr) | |
8 | g.115587019T>A | CA372064609 | TRPS1 | c.2682A>T (p.Glu894Asp) c.2643A>T (p.Glu881Asp) c.2055A>T (p.Glu685Asp) c.1905A>T (p.Glu635Asp) c.2655A>T (p.Glu885Asp) c.2661A>T (p.Glu887Asp) | dbSNP |
8 | g.115587019T>C | CA462658520 | TRPS1 | c.2682A>G (p.Glu894=) c.2643A>G (p.Glu881=) c.2055A>G (p.Glu685=) c.1905A>G (p.Glu635=) c.2655A>G (p.Glu885=) c.2661A>G (p.Glu887=) | |
8 | g.115587019T>G | CA372064610 | TRPS1 | c.2682A>C (p.Glu894Asp) c.2643A>C (p.Glu881Asp) c.2055A>C (p.Glu685Asp) c.1905A>C (p.Glu635Asp) c.2655A>C (p.Glu885Asp) c.2661A>C (p.Glu887Asp) | |
8 | g.115587019T= | CA1812945266 | TRPS1 | c.2682A= (p.Glu894=) c.2643A= (p.Glu881=) c.2055A= (p.Glu685=) c.1905A= (p.Glu635=) c.2655A= (p.Glu885=) c.2661A= (p.Glu887=) | |
8 | g.115587020T>A | CA372064611 | TRPS1 | c.2681A>T (p.Glu894Val) c.2642A>T (p.Glu881Val) c.2054A>T (p.Glu685Val) c.1904A>T (p.Glu635Val) c.2654A>T (p.Glu885Val) c.2660A>T (p.Glu887Val) | |
8 | g.115587020T>C | CA372064612 | TRPS1 | c.2681A>G (p.Glu894Gly) c.2642A>G (p.Glu881Gly) c.2054A>G (p.Glu685Gly) c.1904A>G (p.Glu635Gly) c.2654A>G (p.Glu885Gly) c.2660A>G (p.Glu887Gly) | |
8 | g.115587020T>G | CA372064613 | TRPS1 | c.2681A>C (p.Glu894Ala) c.2642A>C (p.Glu881Ala) c.2054A>C (p.Glu685Ala) c.1904A>C (p.Glu635Ala) c.2654A>C (p.Glu885Ala) c.2660A>C (p.Glu887Ala) | |
8 | g.115587021C>A | CA372064614 | TRPS1 | c.2680G>T (p.Glu894Ter) c.2641G>T (p.Glu881Ter) c.2053G>T (p.Glu685Ter) c.1903G>T (p.Glu635Ter) c.2653G>T (p.Glu885Ter) c.2659G>T (p.Glu887Ter) | |
8 | g.115587021C>G | CA372064615 | TRPS1 | c.2680G>C (p.Glu894Gln) c.2641G>C (p.Glu881Gln) c.2053G>C (p.Glu685Gln) c.1903G>C (p.Glu635Gln) c.2653G>C (p.Glu885Gln) c.2659G>C (p.Glu887Gln) | |
8 | g.115587021C>T | CA372064616 | TRPS1 | c.2680G>A (p.Glu894Lys) c.2641G>A (p.Glu881Lys) c.2053G>A (p.Glu685Lys) c.1903G>A (p.Glu635Lys) c.2653G>A (p.Glu885Lys) c.2659G>A (p.Glu887Lys) | COSMIC COSMIC |
8 | g.115587022A>C | CA372064617 | TRPS1 | c.2679T>G (p.Asp893Glu) c.2640T>G (p.Asp880Glu) c.2052T>G (p.Asp684Glu) c.1902T>G (p.Asp634Glu) c.2652T>G (p.Asp884Glu) c.2658T>G (p.Asp886Glu) | |
8 | g.115587022A>G | CA462658523 | TRPS1 | c.2679T>C (p.Asp893=) c.2640T>C (p.Asp880=) c.2052T>C (p.Asp684=) c.1902T>C (p.Asp634=) c.2652T>C (p.Asp884=) c.2658T>C (p.Asp886=) | |
8 | g.115587022A>T | CA372064618 | TRPS1 | c.2679T>A (p.Asp893Glu) c.2640T>A (p.Asp880Glu) c.2052T>A (p.Asp684Glu) c.1902T>A (p.Asp634Glu) c.2652T>A (p.Asp884Glu) c.2658T>A (p.Asp886Glu) | |
8 | g.115587023T>A | CA372064619 | TRPS1 | c.2678A>T (p.Asp893Val) c.2639A>T (p.Asp880Val) c.2051A>T (p.Asp684Val) c.1901A>T (p.Asp634Val) c.2651A>T (p.Asp884Val) c.2657A>T (p.Asp886Val) | |
8 | g.115587023T>C | CA372064620 | TRPS1 | c.2678A>G (p.Asp893Gly) c.2639A>G (p.Asp880Gly) c.2051A>G (p.Asp684Gly) c.1901A>G (p.Asp634Gly) c.2651A>G (p.Asp884Gly) c.2657A>G (p.Asp886Gly) | |
8 | g.115587023T>G | CA372064621 | TRPS1 | c.2678A>C (p.Asp893Ala) c.2639A>C (p.Asp880Ala) c.2051A>C (p.Asp684Ala) c.1901A>C (p.Asp634Ala) c.2651A>C (p.Asp884Ala) c.2657A>C (p.Asp886Ala) | |
8 | g.115587024C>A | CA372064622 | TRPS1 | c.2677G>T (p.Asp893Tyr) c.2638G>T (p.Asp880Tyr) c.2050G>T (p.Asp684Tyr) c.1900G>T (p.Asp634Tyr) c.2650G>T (p.Asp884Tyr) c.2656G>T (p.Asp886Tyr) | |
8 | g.115587024C>G | CA372064623 | TRPS1 | c.2677G>C (p.Asp893His) c.2638G>C (p.Asp880His) c.2050G>C (p.Asp684His) c.1900G>C (p.Asp634His) c.2650G>C (p.Asp884His) c.2656G>C (p.Asp886His) | |
8 | g.115587024C>T | CA372064624 | TRPS1 | c.2677G>A (p.Asp893Asn) c.2638G>A (p.Asp880Asn) c.2050G>A (p.Asp684Asn) c.1900G>A (p.Asp634Asn) c.2650G>A (p.Asp884Asn) c.2656G>A (p.Asp886Asn) | |
8 | g.115587025C>A | CA372064625 | TRPS1 | c.2676G>T (p.Lys892Asn) c.2637G>T (p.Lys879Asn) c.2049G>T (p.Lys683Asn) c.1899G>T (p.Lys633Asn) c.2649G>T (p.Lys883Asn) c.2655G>T (p.Lys885Asn) | COSMIC COSMIC |
8 | g.115587025C= | CA1812945270 | TRPS1 | c.2676G= (p.Lys892=) c.2637G= (p.Lys879=) c.2049G= (p.Lys683=) c.1899G= (p.Lys633=) c.2649G= (p.Lys883=) c.2655G= (p.Lys885=) | |
8 | g.115587025C>G | CA372064626 | TRPS1 | c.2676G>C (p.Lys892Asn) c.2637G>C (p.Lys879Asn) c.2049G>C (p.Lys683Asn) c.1899G>C (p.Lys633Asn) c.2649G>C (p.Lys883Asn) c.2655G>C (p.Lys885Asn) | |
8 | g.115587025C>T | CA184607457 | TRPS1 | c.2676G>A (p.Lys892=) c.2637G>A (p.Lys879=) c.2049G>A (p.Lys683=) c.1899G>A (p.Lys633=) c.2649G>A (p.Lys883=) c.2655G>A (p.Lys885=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587026T>A | CA372064627 | TRPS1 | c.2675A>T (p.Lys892Met) c.2636A>T (p.Lys879Met) c.2048A>T (p.Lys683Met) c.1898A>T (p.Lys633Met) c.2648A>T (p.Lys883Met) c.2654A>T (p.Lys885Met) | |
8 | g.115587026T>C | CA372064628 | TRPS1 | c.2675A>G (p.Lys892Arg) c.2636A>G (p.Lys879Arg) c.2048A>G (p.Lys683Arg) c.1898A>G (p.Lys633Arg) c.2648A>G (p.Lys883Arg) c.2654A>G (p.Lys885Arg) | dbSNP |
8 | g.115587026T>G | CA372064629 | TRPS1 | c.2675A>C (p.Lys892Thr) c.2636A>C (p.Lys879Thr) c.2048A>C (p.Lys683Thr) c.1898A>C (p.Lys633Thr) c.2648A>C (p.Lys883Thr) c.2654A>C (p.Lys885Thr) | |
8 | g.115587026T= | CA1812945272 | TRPS1 | c.2675A= (p.Lys892=) c.2636A= (p.Lys879=) c.2048A= (p.Lys683=) c.1898A= (p.Lys633=) c.2648A= (p.Lys883=) c.2654A= (p.Lys885=) | |
8 | g.115587027T>A | CA372064630 | TRPS1 | c.2674A>T (p.Lys892Ter) c.2635A>T (p.Lys879Ter) c.2047A>T (p.Lys683Ter) c.1897A>T (p.Lys633Ter) c.2647A>T (p.Lys883Ter) c.2653A>T (p.Lys885Ter) | COSMIC COSMIC |
8 | g.115587027T>C | CA372064631 | TRPS1 | c.2674A>G (p.Lys892Glu) c.2635A>G (p.Lys879Glu) c.2047A>G (p.Lys683Glu) c.1897A>G (p.Lys633Glu) c.2647A>G (p.Lys883Glu) c.2653A>G (p.Lys885Glu) | |
8 | g.115587027T>G | CA372064632 | TRPS1 | c.2674A>C (p.Lys892Gln) c.2635A>C (p.Lys879Gln) c.2047A>C (p.Lys683Gln) c.1897A>C (p.Lys633Gln) c.2647A>C (p.Lys883Gln) c.2653A>C (p.Lys885Gln) | |
8 | g.115587028G>A | CA462658526 | TRPS1 | c.2673C>T (p.Ser891=) c.2634C>T (p.Ser878=) c.2046C>T (p.Ser682=) c.1896C>T (p.Ser632=) c.2646C>T (p.Ser882=) c.2652C>T (p.Ser884=) | COSMIC COSMIC |
8 | g.115587028G>C | CA462658528 | TRPS1 | c.2673C>G (p.Ser891=) c.2634C>G (p.Ser878=) c.2046C>G (p.Ser682=) c.1896C>G (p.Ser632=) c.2646C>G (p.Ser882=) c.2652C>G (p.Ser884=) | |
8 | g.115587028G>T | CA462658527 | TRPS1 | c.2673C>A (p.Ser891=) c.2634C>A (p.Ser878=) c.2046C>A (p.Ser682=) c.1896C>A (p.Ser632=) c.2646C>A (p.Ser882=) c.2652C>A (p.Ser884=) | |
8 | g.115587029G>A | CA372064635 | TRPS1 | c.2672C>T (p.Ser891Phe) c.2633C>T (p.Ser878Phe) c.2045C>T (p.Ser682Phe) c.1895C>T (p.Ser632Phe) c.2645C>T (p.Ser882Phe) c.2651C>T (p.Ser884Phe) | gnomAD v4 |
8 | g.115587029G>C | CA372064634 | TRPS1 | c.2672C>G (p.Ser891Cys) c.2633C>G (p.Ser878Cys) c.2045C>G (p.Ser682Cys) c.1895C>G (p.Ser632Cys) c.2645C>G (p.Ser882Cys) c.2651C>G (p.Ser884Cys) | |
8 | g.115587029G>T | CA372064633 | TRPS1 | c.2672C>A (p.Ser891Tyr) c.2633C>A (p.Ser878Tyr) c.2045C>A (p.Ser682Tyr) c.1895C>A (p.Ser632Tyr) c.2645C>A (p.Ser882Tyr) c.2651C>A (p.Ser884Tyr) | COSMIC COSMIC |
8 | g.115587030A>C | CA372064636 | TRPS1 | c.2671T>G (p.Ser891Ala) c.2632T>G (p.Ser878Ala) c.2044T>G (p.Ser682Ala) c.1894T>G (p.Ser632Ala) c.2644T>G (p.Ser882Ala) c.2650T>G (p.Ser884Ala) | |
8 | g.115587030A>G | CA372064637 | TRPS1 | c.2671T>C (p.Ser891Pro) c.2632T>C (p.Ser878Pro) c.2044T>C (p.Ser682Pro) c.1894T>C (p.Ser632Pro) c.2644T>C (p.Ser882Pro) c.2650T>C (p.Ser884Pro) | |
8 | g.115587030A>T | CA372064638 | TRPS1 | c.2671T>A (p.Ser891Thr) c.2632T>A (p.Ser878Thr) c.2044T>A (p.Ser682Thr) c.1894T>A (p.Ser632Thr) c.2644T>A (p.Ser882Thr) c.2650T>A (p.Ser884Thr) | |
8 | g.115587031C>A | CA372064639 | TRPS1 | c.2670G>T (p.Lys890Asn) c.2631G>T (p.Lys877Asn) c.2043G>T (p.Lys681Asn) c.1893G>T (p.Lys631Asn) c.2643G>T (p.Lys881Asn) c.2649G>T (p.Lys883Asn) | |
8 | g.115587031C>G | CA372064640 | TRPS1 | c.2670G>C (p.Lys890Asn) c.2631G>C (p.Lys877Asn) c.2043G>C (p.Lys681Asn) c.1893G>C (p.Lys631Asn) c.2643G>C (p.Lys881Asn) c.2649G>C (p.Lys883Asn) | |
8 | g.115587031C>T | CA462658530 | TRPS1 | c.2670G>A (p.Lys890=) c.2631G>A (p.Lys877=) c.2043G>A (p.Lys681=) c.1893G>A (p.Lys631=) c.2643G>A (p.Lys881=) c.2649G>A (p.Lys883=) | gnomAD v4 |
8 | g.115587032T>A | CA372064641 | TRPS1 | c.2669A>T (p.Lys890Met) c.2630A>T (p.Lys877Met) c.2042A>T (p.Lys681Met) c.1892A>T (p.Lys631Met) c.2642A>T (p.Lys881Met) c.2648A>T (p.Lys883Met) | |
8 | g.115587032T>C | CA372064642 | TRPS1 | c.2669A>G (p.Lys890Arg) c.2630A>G (p.Lys877Arg) c.2042A>G (p.Lys681Arg) c.1892A>G (p.Lys631Arg) c.2642A>G (p.Lys881Arg) c.2648A>G (p.Lys883Arg) | |
8 | g.115587032T>G | CA372064643 | TRPS1 | c.2669A>C (p.Lys890Thr) c.2630A>C (p.Lys877Thr) c.2042A>C (p.Lys681Thr) c.1892A>C (p.Lys631Thr) c.2642A>C (p.Lys881Thr) c.2648A>C (p.Lys883Thr) | |
8 | g.115587033T>A | CA372064644 | TRPS1 | c.2668A>T (p.Lys890Ter) c.2629A>T (p.Lys877Ter) c.2041A>T (p.Lys681Ter) c.1891A>T (p.Lys631Ter) c.2641A>T (p.Lys881Ter) c.2647A>T (p.Lys883Ter) | |
8 | g.115587033T>C | CA372064645 | TRPS1 | c.2668A>G (p.Lys890Glu) c.2629A>G (p.Lys877Glu) c.2041A>G (p.Lys681Glu) c.1891A>G (p.Lys631Glu) c.2641A>G (p.Lys881Glu) c.2647A>G (p.Lys883Glu) | gnomAD v4 |
8 | g.115587033T>G | CA372064646 | TRPS1 | c.2668A>C (p.Lys890Gln) c.2629A>C (p.Lys877Gln) c.2041A>C (p.Lys681Gln) c.1891A>C (p.Lys631Gln) c.2641A>C (p.Lys881Gln) c.2647A>C (p.Lys883Gln) | |
8 | g.115587034G>A | CA462658533 | TRPS1 | c.2667C>T (p.Asn889=) c.2628C>T (p.Asn876=) c.2040C>T (p.Asn680=) c.1890C>T (p.Asn630=) c.2640C>T (p.Asn880=) c.2646C>T (p.Asn882=) | gnomAD v4 |
8 | g.115587034G>C | CA372064647 | TRPS1 | c.2667C>G (p.Asn889Lys) c.2628C>G (p.Asn876Lys) c.2040C>G (p.Asn680Lys) c.1890C>G (p.Asn630Lys) c.2640C>G (p.Asn880Lys) c.2646C>G (p.Asn882Lys) | |
8 | g.115587034G>T | CA372064648 | TRPS1 | c.2667C>A (p.Asn889Lys) c.2628C>A (p.Asn876Lys) c.2040C>A (p.Asn680Lys) c.1890C>A (p.Asn630Lys) c.2640C>A (p.Asn880Lys) c.2646C>A (p.Asn882Lys) | |
8 | g.115587034_115587035delinsGT | CA1812945274 | TRPS1 | c.2666_2667delinsAC (p.Asn889=) c.2627_2628delinsAC (p.Asn876=) c.2039_2040delinsAC (p.Asn680=) c.1889_1890delinsAC (p.Asn630=) c.2639_2640delinsAC (p.Asn880=) c.2645_2646delinsAC (p.Asn882=) | |
8 | g.115587035T>A | CA372064651 | TRPS1 | c.2666A>T (p.Asn889Ile) c.2627A>T (p.Asn876Ile) c.2039A>T (p.Asn680Ile) c.1889A>T (p.Asn630Ile) c.2639A>T (p.Asn880Ile) c.2645A>T (p.Asn882Ile) | |
8 | g.115587035T>C | CA372064650 | TRPS1 | c.2666A>G (p.Asn889Ser) c.2627A>G (p.Asn876Ser) c.2039A>G (p.Asn680Ser) c.1889A>G (p.Asn630Ser) c.2639A>G (p.Asn880Ser) c.2645A>G (p.Asn882Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115587035T>G | CA372064649 | TRPS1 | c.2666A>C (p.Asn889Thr) c.2627A>C (p.Asn876Thr) c.2039A>C (p.Asn680Thr) c.1889A>C (p.Asn630Thr) c.2639A>C (p.Asn880Thr) c.2645A>C (p.Asn882Thr) | |
8 | g.115587035T= | CA1812945281 | TRPS1 | c.2666A= (p.Asn889=) c.2627A= (p.Asn876=) c.2039A= (p.Asn680=) c.1889A= (p.Asn630=) c.2639A= (p.Asn880=) c.2645A= (p.Asn882=) | |
8 | g.115587038del | CA915948699 | TRPS1 | c.2666del (p.Asn889ThrfsTer25) c.2627del (p.Asn876ThrfsTer25) c.2039del (p.Asn680ThrfsTer?) c.1889del (p.Asn630ThrfsTer25) c.2627del (p.Asn876ThrfsTer19) c.2639del (p.Asn880ThrfsTer25) c.2645del (p.Asn882ThrfsTer25) | ClinVar dbSNP |
8 | g.115587036T>A | CA372064652 | TRPS1 | c.2665A>T (p.Asn889Tyr) c.2626A>T (p.Asn876Tyr) c.2038A>T (p.Asn680Tyr) c.1888A>T (p.Asn630Tyr) c.2638A>T (p.Asn880Tyr) c.2644A>T (p.Asn882Tyr) | |
8 | g.115587036T>C | CA372064653 | TRPS1 | c.2665A>G (p.Asn889Asp) c.2626A>G (p.Asn876Asp) c.2038A>G (p.Asn680Asp) c.1888A>G (p.Asn630Asp) c.2638A>G (p.Asn880Asp) c.2644A>G (p.Asn882Asp) | |
8 | g.115587036T>G | CA372064654 | TRPS1 | c.2665A>C (p.Asn889His) c.2626A>C (p.Asn876His) c.2038A>C (p.Asn680His) c.1888A>C (p.Asn630His) c.2638A>C (p.Asn880His) c.2644A>C (p.Asn882His) | |
8 | g.115587037T>A | CA372064655 | TRPS1 | c.2664A>T (p.Glu888Asp) c.2625A>T (p.Glu875Asp) c.2037A>T (p.Glu679Asp) c.1887A>T (p.Glu629Asp) c.2637A>T (p.Glu879Asp) c.2643A>T (p.Glu881Asp) | |
8 | g.115587037T>C | CA462658538 | TRPS1 | c.2664A>G (p.Glu888=) c.2625A>G (p.Glu875=) c.2037A>G (p.Glu679=) c.1887A>G (p.Glu629=) c.2637A>G (p.Glu879=) c.2643A>G (p.Glu881=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587037T>G | CA372064656 | TRPS1 | c.2664A>C (p.Glu888Asp) c.2625A>C (p.Glu875Asp) c.2037A>C (p.Glu679Asp) c.1887A>C (p.Glu629Asp) c.2637A>C (p.Glu879Asp) c.2643A>C (p.Glu881Asp) | |
8 | g.115587037T= | CA1812945286 | TRPS1 | c.2664A= (p.Glu888=) c.2625A= (p.Glu875=) c.2037A= (p.Glu679=) c.1887A= (p.Glu629=) c.2637A= (p.Glu879=) c.2643A= (p.Glu881=) | |
8 | g.115587038T>A | CA372064657 | TRPS1 | c.2663A>T (p.Glu888Val) c.2624A>T (p.Glu875Val) c.2036A>T (p.Glu679Val) c.1886A>T (p.Glu629Val) c.2636A>T (p.Glu879Val) c.2642A>T (p.Glu881Val) | |
8 | g.115587038T>C | CA372064658 | TRPS1 | c.2663A>G (p.Glu888Gly) c.2624A>G (p.Glu875Gly) c.2036A>G (p.Glu679Gly) c.1886A>G (p.Glu629Gly) c.2636A>G (p.Glu879Gly) c.2642A>G (p.Glu881Gly) | |
8 | g.115587038T>G | CA372064659 | TRPS1 | c.2663A>C (p.Glu888Ala) c.2624A>C (p.Glu875Ala) c.2036A>C (p.Glu679Ala) c.1886A>C (p.Glu629Ala) c.2636A>C (p.Glu879Ala) c.2642A>C (p.Glu881Ala) | |
8 | g.115587039C>A | CA372064660 | TRPS1 | c.2662G>T (p.Glu888Ter) c.2623G>T (p.Glu875Ter) c.2035G>T (p.Glu679Ter) c.1885G>T (p.Glu629Ter) c.2635G>T (p.Glu879Ter) c.2641G>T (p.Glu881Ter) | |
8 | g.115587039C= | CA1812945290 | TRPS1 | c.2662G= (p.Glu888=) c.2623G= (p.Glu875=) c.2035G= (p.Glu679=) c.1885G= (p.Glu629=) c.2635G= (p.Glu879=) c.2641G= (p.Glu881=) | |
8 | g.115587039C>G | CA372064661 | TRPS1 | c.2662G>C (p.Glu888Gln) c.2623G>C (p.Glu875Gln) c.2035G>C (p.Glu679Gln) c.1885G>C (p.Glu629Gln) c.2635G>C (p.Glu879Gln) c.2641G>C (p.Glu881Gln) | |
8 | g.115587039C>T | CA10624623 | TRPS1 | c.2662G>A (p.Glu888Lys) c.2623G>A (p.Glu875Lys) c.2035G>A (p.Glu679Lys) c.1885G>A (p.Glu629Lys) c.2635G>A (p.Glu879Lys) c.2641G>A (p.Glu881Lys) | dbSNP gnomAD v4 |
8 | g.115587040T>A | CA462658540 | TRPS1 | c.2661A>T (p.Gly887=) c.2622A>T (p.Gly874=) c.2034A>T (p.Gly678=) c.1884A>T (p.Gly628=) c.2634A>T (p.Gly878=) c.2640A>T (p.Gly880=) | |
8 | g.115587040T>C | CA462658541 | TRPS1 | c.2661A>G (p.Gly887=) c.2622A>G (p.Gly874=) c.2034A>G (p.Gly678=) c.1884A>G (p.Gly628=) c.2634A>G (p.Gly878=) c.2640A>G (p.Gly880=) | |
8 | g.115587040T>G | CA462658542 | TRPS1 | c.2661A>C (p.Gly887=) c.2622A>C (p.Gly874=) c.2034A>C (p.Gly678=) c.1884A>C (p.Gly628=) c.2634A>C (p.Gly878=) c.2640A>C (p.Gly880=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115587040T= | CA1812945294 | TRPS1 | c.2661A= (p.Gly887=) c.2622A= (p.Gly874=) c.2034A= (p.Gly678=) c.1884A= (p.Gly628=) c.2634A= (p.Gly878=) c.2640A= (p.Gly880=) | |
8 | g.115587041C>A | CA372064662 | TRPS1 | c.2660G>T (p.Gly887Val) c.2621G>T (p.Gly874Val) c.2033G>T (p.Gly678Val) c.1883G>T (p.Gly628Val) c.2633G>T (p.Gly878Val) c.2639G>T (p.Gly880Val) | |
8 | g.115587041C>G | CA372064663 | TRPS1 | c.2660G>C (p.Gly887Ala) c.2621G>C (p.Gly874Ala) c.2033G>C (p.Gly678Ala) c.1883G>C (p.Gly628Ala) c.2633G>C (p.Gly878Ala) c.2639G>C (p.Gly880Ala) | |
8 | g.115587041C>T | CA372064664 | TRPS1 | c.2660G>A (p.Gly887Glu) c.2621G>A (p.Gly874Glu) c.2033G>A (p.Gly678Glu) c.1883G>A (p.Gly628Glu) c.2633G>A (p.Gly878Glu) c.2639G>A (p.Gly880Glu) | |
8 | g.115587042C>A | CA372064666 | TRPS1 | c.2659G>T (p.Gly887Ter) c.2620G>T (p.Gly874Ter) c.2032G>T (p.Gly678Ter) c.1882G>T (p.Gly628Ter) c.2632G>T (p.Gly878Ter) c.2638G>T (p.Gly880Ter) | |
8 | g.115587042C= | CA1812945297 | TRPS1 | c.2659G= (p.Gly887=) c.2620G= (p.Gly874=) c.2032G= (p.Gly678=) c.1882G= (p.Gly628=) c.2632G= (p.Gly878=) c.2638G= (p.Gly880=) | |
8 | g.115587042C>G | CA4851612 | TRPS1 | c.2659G>C (p.Gly887Arg) c.2620G>C (p.Gly874Arg) c.2032G>C (p.Gly678Arg) c.1882G>C (p.Gly628Arg) c.2632G>C (p.Gly878Arg) c.2638G>C (p.Gly880Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.115587042C>T | CA372064665 | TRPS1 | c.2659G>A (p.Gly887Arg) c.2620G>A (p.Gly874Arg) c.2032G>A (p.Gly678Arg) c.1882G>A (p.Gly628Arg) c.2632G>A (p.Gly878Arg) c.2638G>A (p.Gly880Arg) | |
8 | g.115587043C>A | CA4851613 | TRPS1 | c.2658G>T (p.Ser886=) c.2619G>T (p.Ser873=) c.2031G>T (p.Ser677=) c.1881G>T (p.Ser627=) c.2631G>T (p.Ser877=) c.2637G>T (p.Ser879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587043C= | CA1812945302 | TRPS1 | c.2658G= (p.Ser886=) c.2619G= (p.Ser873=) c.2031G= (p.Ser677=) c.1881G= (p.Ser627=) c.2631G= (p.Ser877=) c.2637G= (p.Ser879=) | |
8 | g.115587043C>G | CA462658545 | TRPS1 | c.2658G>C (p.Ser886=) c.2619G>C (p.Ser873=) c.2031G>C (p.Ser677=) c.1881G>C (p.Ser627=) c.2631G>C (p.Ser877=) c.2637G>C (p.Ser879=) | dbSNP gnomAD v2 |
8 | g.115587043C>T | CA462658546 | TRPS1 | c.2658G>A (p.Ser886=) c.2619G>A (p.Ser873=) c.2031G>A (p.Ser677=) c.1881G>A (p.Ser627=) c.2631G>A (p.Ser877=) c.2637G>A (p.Ser879=) | gnomAD v4 COSMIC COSMIC |
8 | g.115587044G>A | CA4851614 | TRPS1 | c.2657C>T (p.Ser886Leu) c.2618C>T (p.Ser873Leu) c.2030C>T (p.Ser677Leu) c.1880C>T (p.Ser627Leu) c.2630C>T (p.Ser877Leu) c.2636C>T (p.Ser879Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587044G>C | CA372064667 | TRPS1 | c.2657C>G (p.Ser886Trp) c.2618C>G (p.Ser873Trp) c.2030C>G (p.Ser677Trp) c.1880C>G (p.Ser627Trp) c.2630C>G (p.Ser877Trp) c.2636C>G (p.Ser879Trp) | |
8 | g.115587044G= | CA1812945307 | TRPS1 | c.2657C= (p.Ser886=) c.2618C= (p.Ser873=) c.2030C= (p.Ser677=) c.1880C= (p.Ser627=) c.2630C= (p.Ser877=) c.2636C= (p.Ser879=) | |
8 | g.115587044G>T | CA372064668 | TRPS1 | c.2657C>A (p.Ser886Ter) c.2618C>A (p.Ser873Ter) c.2030C>A (p.Ser677Ter) c.1880C>A (p.Ser627Ter) c.2630C>A (p.Ser877Ter) c.2636C>A (p.Ser879Ter) | ClinVar dbSNP |
8 | g.115587045A>C | CA372064669 | TRPS1 | c.2656T>G (p.Ser886Ala) c.2617T>G (p.Ser873Ala) c.2029T>G (p.Ser677Ala) c.1879T>G (p.Ser627Ala) c.2629T>G (p.Ser877Ala) c.2635T>G (p.Ser879Ala) | |
8 | g.115587045A>G | CA372064670 | TRPS1 | c.2656T>C (p.Ser886Pro) c.2617T>C (p.Ser873Pro) c.2029T>C (p.Ser677Pro) c.1879T>C (p.Ser627Pro) c.2629T>C (p.Ser877Pro) c.2635T>C (p.Ser879Pro) | |
8 | g.115587045A>T | CA372064671 | TRPS1 | c.2656T>A (p.Ser886Thr) c.2617T>A (p.Ser873Thr) c.2029T>A (p.Ser677Thr) c.1879T>A (p.Ser627Thr) c.2629T>A (p.Ser877Thr) c.2635T>A (p.Ser879Thr) | |
8 | g.115587046T>A | CA462658550 | TRPS1 | c.2655A>T (p.Ala885=) c.2616A>T (p.Ala872=) c.2028A>T (p.Ala676=) c.1878A>T (p.Ala626=) c.2628A>T (p.Ala876=) c.2634A>T (p.Ala878=) | |
8 | g.115587046T>C | CA462658551 | TRPS1 | c.2655A>G (p.Ala885=) c.2616A>G (p.Ala872=) c.2028A>G (p.Ala676=) c.1878A>G (p.Ala626=) c.2628A>G (p.Ala876=) c.2634A>G (p.Ala878=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115587046T>G | CA462658553 | TRPS1 | c.2655A>C (p.Ala885=) c.2616A>C (p.Ala872=) c.2028A>C (p.Ala676=) c.1878A>C (p.Ala626=) c.2628A>C (p.Ala876=) c.2634A>C (p.Ala878=) | gnomAD v4 |
8 | g.115587046T= | CA1812945309 | TRPS1 | c.2655A= (p.Ala885=) c.2616A= (p.Ala872=) c.2028A= (p.Ala676=) c.1878A= (p.Ala626=) c.2628A= (p.Ala876=) c.2634A= (p.Ala878=) | |
8 | g.115587047G>A | CA4851615 | TRPS1 | c.2654C>T (p.Ala885Val) c.2615C>T (p.Ala872Val) c.2027C>T (p.Ala676Val) c.1877C>T (p.Ala626Val) c.2627C>T (p.Ala876Val) c.2633C>T (p.Ala878Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587047G>C | CA372064672 | TRPS1 | c.2654C>G (p.Ala885Gly) c.2615C>G (p.Ala872Gly) c.2027C>G (p.Ala676Gly) c.1877C>G (p.Ala626Gly) c.2627C>G (p.Ala876Gly) c.2633C>G (p.Ala878Gly) | |
8 | g.115587047G= | CA1812945315 | TRPS1 | c.2654C= (p.Ala885=) c.2615C= (p.Ala872=) c.2027C= (p.Ala676=) c.1877C= (p.Ala626=) c.2627C= (p.Ala876=) c.2633C= (p.Ala878=) | |
8 | g.115587047G>T | CA372064673 | TRPS1 | c.2654C>A (p.Ala885Glu) c.2615C>A (p.Ala872Glu) c.2027C>A (p.Ala676Glu) c.1877C>A (p.Ala626Glu) c.2627C>A (p.Ala876Glu) c.2633C>A (p.Ala878Glu) | |
8 | g.115587048C>A | CA372064674 | TRPS1 | c.2653G>T (p.Ala885Ser) c.2614G>T (p.Ala872Ser) c.2026G>T (p.Ala676Ser) c.1876G>T (p.Ala626Ser) c.2626G>T (p.Ala876Ser) c.2632G>T (p.Ala878Ser) | |
8 | g.115587048C= | CA1812945323 | TRPS1 | c.2653G= (p.Ala885=) c.2614G= (p.Ala872=) c.2026G= (p.Ala676=) c.1876G= (p.Ala626=) c.2626G= (p.Ala876=) c.2632G= (p.Ala878=) | |
8 | g.115587048C>G | CA372064675 | TRPS1 | c.2653G>C (p.Ala885Pro) c.2614G>C (p.Ala872Pro) c.2026G>C (p.Ala676Pro) c.1876G>C (p.Ala626Pro) c.2626G>C (p.Ala876Pro) c.2632G>C (p.Ala878Pro) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.115587048C>T | CA372064676 | TRPS1 | c.2653G>A (p.Ala885Thr) c.2614G>A (p.Ala872Thr) c.2026G>A (p.Ala676Thr) c.1876G>A (p.Ala626Thr) c.2626G>A (p.Ala876Thr) c.2632G>A (p.Ala878Thr) | dbSNP gnomAD v2 |
8 | g.115587049A= | CA1812945328 | TRPS1 | c.2652T= (p.Pro884=) c.2613T= (p.Pro871=) c.2025T= (p.Pro675=) c.1875T= (p.Pro625=) c.2625T= (p.Pro875=) c.2631T= (p.Pro877=) | |
8 | g.115587049A>C | CA462658556 | TRPS1 | c.2652T>G (p.Pro884=) c.2613T>G (p.Pro871=) c.2025T>G (p.Pro675=) c.1875T>G (p.Pro625=) c.2625T>G (p.Pro875=) c.2631T>G (p.Pro877=) | |
8 | g.115587049A>G | CA462658557 | TRPS1 | c.2652T>C (p.Pro884=) c.2613T>C (p.Pro871=) c.2025T>C (p.Pro675=) c.1875T>C (p.Pro625=) c.2625T>C (p.Pro875=) c.2631T>C (p.Pro877=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.115587049A>T | CA462658559 | TRPS1 | c.2652T>A (p.Pro884=) c.2613T>A (p.Pro871=) c.2025T>A (p.Pro675=) c.1875T>A (p.Pro625=) c.2625T>A (p.Pro875=) c.2631T>A (p.Pro877=) | dbSNP |
8 | g.115587050G>A | CA372064679 | TRPS1 | c.2651C>T (p.Pro884Leu) c.2612C>T (p.Pro871Leu) c.2024C>T (p.Pro675Leu) c.1874C>T (p.Pro625Leu) c.2624C>T (p.Pro875Leu) c.2630C>T (p.Pro877Leu) | dbSNP |
8 | g.115587050G>C | CA372064678 | TRPS1 | c.2651C>G (p.Pro884Arg) c.2612C>G (p.Pro871Arg) c.2024C>G (p.Pro675Arg) c.1874C>G (p.Pro625Arg) c.2624C>G (p.Pro875Arg) c.2630C>G (p.Pro877Arg) | gnomAD v4 |
8 | g.115587050G= | CA1812945333 | TRPS1 | c.2651C= (p.Pro884=) c.2612C= (p.Pro871=) c.2024C= (p.Pro675=) c.1874C= (p.Pro625=) c.2624C= (p.Pro875=) c.2630C= (p.Pro877=) | |
8 | g.115587050G>T | CA372064677 | TRPS1 | c.2651C>A (p.Pro884His) c.2612C>A (p.Pro871His) c.2024C>A (p.Pro675His) c.1874C>A (p.Pro625His) c.2624C>A (p.Pro875His) c.2630C>A (p.Pro877His) | |
8 | g.115587051G>A | CA372064680 | TRPS1 | c.2650C>T (p.Pro884Ser) c.2611C>T (p.Pro871Ser) c.2023C>T (p.Pro675Ser) c.1873C>T (p.Pro625Ser) c.2623C>T (p.Pro875Ser) c.2629C>T (p.Pro877Ser) | ClinVar dbSNP |
8 | g.115587051G>C | CA372064681 | TRPS1 | c.2650C>G (p.Pro884Ala) c.2611C>G (p.Pro871Ala) c.2023C>G (p.Pro675Ala) c.1873C>G (p.Pro625Ala) c.2623C>G (p.Pro875Ala) c.2629C>G (p.Pro877Ala) | |
8 | g.115587051G>T | CA372064682 | TRPS1 | c.2650C>A (p.Pro884Thr) c.2611C>A (p.Pro871Thr) c.2023C>A (p.Pro675Thr) c.1873C>A (p.Pro625Thr) c.2623C>A (p.Pro875Thr) c.2629C>A (p.Pro877Thr) | |
8 | g.115587052A>C | CA372064683 | TRPS1 | c.2649T>G (p.Tyr883Ter) c.2610T>G (p.Tyr870Ter) c.2022T>G (p.Tyr674Ter) c.1872T>G (p.Tyr624Ter) c.2622T>G (p.Tyr874Ter) c.2628T>G (p.Tyr876Ter) | |
8 | g.115587052A>G | CA462658562 | TRPS1 | c.2649T>C (p.Tyr883=) c.2610T>C (p.Tyr870=) c.2022T>C (p.Tyr674=) c.1872T>C (p.Tyr624=) c.2622T>C (p.Tyr874=) c.2628T>C (p.Tyr876=) | gnomAD v4 |
8 | g.115587052A>T | CA372064684 | TRPS1 | c.2649T>A (p.Tyr883Ter) c.2610T>A (p.Tyr870Ter) c.2022T>A (p.Tyr674Ter) c.1872T>A (p.Tyr624Ter) c.2622T>A (p.Tyr874Ter) c.2628T>A (p.Tyr876Ter) | |
8 | g.115587053T>A | CA372064685 | TRPS1 | c.2648A>T (p.Tyr883Phe) c.2609A>T (p.Tyr870Phe) c.2021A>T (p.Tyr674Phe) c.1871A>T (p.Tyr624Phe) c.2621A>T (p.Tyr874Phe) c.2627A>T (p.Tyr876Phe) | |
8 | g.115587053T>C | CA372064686 | TRPS1 | c.2648A>G (p.Tyr883Cys) c.2609A>G (p.Tyr870Cys) c.2021A>G (p.Tyr674Cys) c.1871A>G (p.Tyr624Cys) c.2621A>G (p.Tyr874Cys) c.2627A>G (p.Tyr876Cys) | gnomAD v4 |
8 | g.115587053T>G | CA372064687 | TRPS1 | c.2648A>C (p.Tyr883Ser) c.2609A>C (p.Tyr870Ser) c.2021A>C (p.Tyr674Ser) c.1871A>C (p.Tyr624Ser) c.2621A>C (p.Tyr874Ser) c.2627A>C (p.Tyr876Ser) | |
8 | g.115587054A= | CA1812945336 | TRPS1 | c.2647T= (p.Tyr883=) c.2608T= (p.Tyr870=) c.2020T= (p.Tyr674=) c.1870T= (p.Tyr624=) c.2620T= (p.Tyr874=) c.2626T= (p.Tyr876=) | |
8 | g.115587054A>C | CA372064688 | TRPS1 | c.2647T>G (p.Tyr883Asp) c.2608T>G (p.Tyr870Asp) c.2020T>G (p.Tyr674Asp) c.1870T>G (p.Tyr624Asp) c.2620T>G (p.Tyr874Asp) c.2626T>G (p.Tyr876Asp) | |
8 | g.115587054A>G | CA372064689 | TRPS1 | c.2647T>C (p.Tyr883His) c.2608T>C (p.Tyr870His) c.2020T>C (p.Tyr674His) c.1870T>C (p.Tyr624His) c.2620T>C (p.Tyr874His) c.2626T>C (p.Tyr876His) | |
8 | g.115587054A>T | CA184607462 | TRPS1 | c.2647T>A (p.Tyr883Asn) c.2608T>A (p.Tyr870Asn) c.2020T>A (p.Tyr674Asn) c.1870T>A (p.Tyr624Asn) c.2620T>A (p.Tyr874Asn) c.2626T>A (p.Tyr876Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
8 | g.115587055C>A | CA372064690 | TRPS1 | c.2646G>T (p.Gln882His) c.2607G>T (p.Gln869His) c.2019G>T (p.Gln673His) c.1869G>T (p.Gln623His) c.2619G>T (p.Gln873His) c.2625G>T (p.Gln875His) | |
8 | g.115587055C>G | CA372064691 | TRPS1 | c.2646G>C (p.Gln882His) c.2607G>C (p.Gln869His) c.2019G>C (p.Gln673His) c.1869G>C (p.Gln623His) c.2619G>C (p.Gln873His) c.2625G>C (p.Gln875His) | |
8 | g.115587055C>T | CA462658564 | TRPS1 | c.2646G>A (p.Gln882=) c.2607G>A (p.Gln869=) c.2019G>A (p.Gln673=) c.1869G>A (p.Gln623=) c.2619G>A (p.Gln873=) c.2625G>A (p.Gln875=) | |
8 | g.115587056T>A | CA372064693 | TRPS1 | c.2645A>T (p.Gln882Leu) c.2606A>T (p.Gln869Leu) c.2018A>T (p.Gln673Leu) c.1868A>T (p.Gln623Leu) c.2618A>T (p.Gln873Leu) c.2624A>T (p.Gln875Leu) | |
8 | g.115587056T>C | CA4851616 | TRPS1 | c.2645A>G (p.Gln882Arg) c.2606A>G (p.Gln869Arg) c.2018A>G (p.Gln673Arg) c.1868A>G (p.Gln623Arg) c.2618A>G (p.Gln873Arg) c.2624A>G (p.Gln875Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.115587056T>G | CA372064692 | TRPS1 | c.2645A>C (p.Gln882Pro) c.2606A>C (p.Gln869Pro) c.2018A>C (p.Gln673Pro) c.1868A>C (p.Gln623Pro) c.2618A>C (p.Gln873Pro) c.2624A>C (p.Gln875Pro) | |
8 | g.115587056T= | CA1812945341 | TRPS1 | c.2645A= (p.Gln882=) c.2606A= (p.Gln869=) c.2018A= (p.Gln673=) c.1868A= (p.Gln623=) c.2618A= (p.Gln873=) c.2624A= (p.Gln875=) |