Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.115586948_115586954delCA2688318262TRPS1c.2700+49_2700+55del (n.2700+49_2700+55del)
c.2661+49_2661+55del (n.2661+49_2661+55del)
c.1923+49_1923+55del (n.1923+49_1923+55del)
c.2673+49_2673+55del (n.2673+49_2673+55del)
c.2679+49_2679+55del (n.2679+49_2679+55del)
 gnomAD v4
8g.115586948C>ACA2688318263TRPS1c.2700+53G>T (n.2700+53G>T)
c.2661+53G>T (n.2661+53G>T)
c.1923+53G>T (n.1923+53G>T)
c.2673+53G>T (n.2673+53G>T)
c.2679+53G>T (n.2679+53G>T)
 gnomAD v4
8g.115586948C=CA1812945191TRPS1c.2700+53G= (n.2700+53G=)
c.2661+53G= (n.2661+53G=)
c.1923+53G= (n.1923+53G=)
c.2673+53G= (n.2673+53G=)
c.2679+53G= (n.2679+53G=)
8g.115586948C>GCA584652288TRPS1c.2700+53G>C (n.2700+53G>C)
c.2661+53G>C (n.2661+53G>C)
c.1923+53G>C (n.1923+53G>C)
c.2673+53G>C (n.2673+53G>C)
c.2679+53G>C (n.2679+53G>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115586949C=CA1812945193TRPS1c.2700+52G= (n.2700+52G=)
c.2661+52G= (n.2661+52G=)
c.1923+52G= (n.1923+52G=)
c.2673+52G= (n.2673+52G=)
c.2679+52G= (n.2679+52G=)
8g.115586949C>TCA1812945194TRPS1c.2700+52G>A (n.2700+52G>A)
c.2661+52G>A (n.2661+52G>A)
c.1923+52G>A (n.1923+52G>A)
c.2673+52G>A (n.2673+52G>A)
c.2679+52G>A (n.2679+52G>A)
 dbSNP gnomAD v4
8g.115586950T>CCA2579233424TRPS1c.2700+51A>G (n.2700+51A>G)
c.2661+51A>G (n.2661+51A>G)
c.1923+51A>G (n.1923+51A>G)
c.2673+51A>G (n.2673+51A>G)
c.2679+51A>G (n.2679+51A>G)
8g.115586951C>ACA2688318264TRPS1c.2700+50G>T (n.2700+50G>T)
c.2661+50G>T (n.2661+50G>T)
c.1923+50G>T (n.1923+50G>T)
c.2673+50G>T (n.2673+50G>T)
c.2679+50G>T (n.2679+50G>T)
 gnomAD v4
8g.115586951C>TCA2579233425TRPS1c.2700+50G>A (n.2700+50G>A)
c.2661+50G>A (n.2661+50G>A)
c.1923+50G>A (n.1923+50G>A)
c.2673+50G>A (n.2673+50G>A)
c.2679+50G>A (n.2679+50G>A)
 gnomAD v4
8g.115586953T>GCA584652289TRPS1c.2700+48A>C (n.2700+48A>C)
c.2661+48A>C (n.2661+48A>C)
c.1923+48A>C (n.1923+48A>C)
c.2673+48A>C (n.2673+48A>C)
c.2679+48A>C (n.2679+48A>C)
 dbSNP gnomAD v2 gnomAD v4
8g.115586953T=CA1812945196TRPS1c.2700+48A= (n.2700+48A=)
c.2661+48A= (n.2661+48A=)
c.1923+48A= (n.1923+48A=)
c.2673+48A= (n.2673+48A=)
c.2679+48A= (n.2679+48A=)
8g.115586956delCA2688318265TRPS1c.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
8g.115586956T>CCA4851604TRPS1c.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
8g.115586956T>GCA2688318266TRPS1c.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
8g.115586956T=CA1812945198TRPS1c.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=)
8g.115586957G>TCA2688318267TRPS1c.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
8g.115586958C>ACA2688318268TRPS1c.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
8g.115586958C>TCA2688318269TRPS1c.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
8g.115586959C>ACA2688318270TRPS1c.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
8g.115586959C>TCA2688318271TRPS1c.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
8g.115586960C>ACA2688318272TRPS1c.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
8g.115586963C>ACA2688318273TRPS1c.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
8g.115586963C>TCA2579233426TRPS1c.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
8g.115586964A>GCA2688318275TRPS1c.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
8g.115586967delCA2688318274TRPS1c.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
8g.115586965A=CA1812945201TRPS1c.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=)
8g.115586965A>TCA4851605TRPS1c.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
8g.115586968C=CA1812945203TRPS1c.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=)
8g.115586968C>TCA584652295TRPS1c.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
8g.115586969A>TCA2688318277TRPS1c.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
8g.115586971delCA2688318276TRPS1c.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
8g.115586971_115586972delinsATCA1812945205TRPS1c.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)
8g.115586972delCA584652299TRPS1c.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
8g.115586972T>ACA1812945216TRPS1c.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
8g.115586972T>CCA4851607TRPS1c.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
8g.115586972T>GCA4851606TRPS1c.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
8g.115586972T=CA1812945215TRPS1c.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=)
8g.115586973G=CA1812945221TRPS1c.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=)
8g.115586973G>TCA4851608TRPS1c.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
8g.115586974A>CCA2688318279TRPS1c.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
8g.115586974A>TCA2688318278TRPS1c.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
8g.115586976T>CCA2579233427TRPS1c.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
8g.115586978A>GCA2603793259TRPS1c.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
8g.115586979T>CCA1812945223TRPS1c.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
8g.115586979T=CA1812945224TRPS1c.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=)
8g.115586980T>CCA2688318280TRPS1c.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
8g.115586982A>TCA2688318281TRPS1c.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
8g.115586985A=CA1812945226TRPS1c.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=)
8g.115586985A>CCA584652309TRPS1c.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
8g.115586987T>CCA2688318282TRPS1c.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
8g.115586988G>ACA1812945229TRPS1c.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
8g.115586988G=CA1812945228TRPS1c.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=)
8g.115586991A=CA1812945235TRPS1c.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=)
8g.115586991A>CCA1812945236TRPS1c.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
8g.115586991A>GCA4851609TRPS1c.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
8g.115586991A>TCA2580845304TRPS1c.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)
8g.115586993C>ACA2688318283TRPS1c.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
8g.115586994A=CA1812945239TRPS1c.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=)
8g.115586994A>GCA584652312TRPS1c.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
8g.115586995T>ACA1812945245TRPS1c.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
8g.115586995T>CCA2688318284TRPS1c.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
8g.115586995T=CA1812945244TRPS1c.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=)
8g.115586997C>ACA2688318285TRPS1c.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
8g.115586998T>CCA2695210054TRPS1c.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)
8g.115586999A>CCA372064567TRPS1c.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)
8g.115586999A>GCA372064568TRPS1c.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)
8g.115586999A>TCA372064569TRPS1c.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)
8g.115587000C>ACA372064572TRPS1c.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)
8g.115587000C=CA1812945249TRPS1c.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=)
8g.115587000C>GCA372064571TRPS1c.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)
8g.115587000C>TCA372064570TRPS1c.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
8g.115587002delCA2695210055TRPS1c.2700+1del
c.2661+1del
c.1923+1del
c.2673+1del
c.2679+1del
8g.115587001C>ACA462631879TRPS1c.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=)
8g.115587001C>GCA462631880TRPS1c.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
8g.115587001C>TCA462631881TRPS1c.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=)
8g.115587002C>ACA372064574TRPS1c.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)
8g.115587002C>GCA372064573TRPS1c.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
8g.115587002C>TCA372064575TRPS1c.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)
8g.115587003G>ACA372064576TRPS1c.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
8g.115587003G>CCA372064577TRPS1c.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)
8g.115587003G>TCA462631882TRPS1c.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
8g.115587004T>ACA372064578TRPS1c.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
8g.115587004T>CCA462658498TRPS1c.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
8g.115587004T>GCA372064579TRPS1c.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)
8g.115587005A>CCA372064580TRPS1c.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)
8g.115587005A>GCA372064581TRPS1c.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)
8g.115587005A>TCA372064582TRPS1c.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)
8g.115587006A>CCA372064583TRPS1c.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)
8g.115587006A>GCA462658500TRPS1c.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=)
8g.115587006A>TCA372064584TRPS1c.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)
8g.115587007C>ACA462658502TRPS1c.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=)
8g.115587007C>GCA462658503TRPS1c.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
8g.115587007C>TCA462658504TRPS1c.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=)
8g.115587008A>CCA372064585TRPS1c.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)
8g.115587008A>GCA372064586TRPS1c.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)
8g.115587008A>TCA372064587TRPS1c.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)
8g.115587009G>ACA462658507TRPS1c.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=)
8g.115587009G>CCA372064589TRPS1c.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)
8g.115587009G>TCA372064588TRPS1c.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)
8g.115587010G>ACA4851610TRPS1c.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
8g.115587010G>CCA462658511TRPS1c.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=)
8g.115587010G=CA1812945251TRPS1c.2691C= (p.Ser897=)
c.2652C= (p.Ser884=)
c.2064C= (p.Ser688=)
c.1914C= (p.Ser638=)
c.2664C= (p.Ser888=)
c.2670C= (p.Ser890=)
8g.115587010G>TCA462658509TRPS1c.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=)
8g.115587011G>ACA372064590TRPS1c.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
8g.115587011G>CCA372064591TRPS1c.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
8g.115587011G=CA1812945259TRPS1c.2690C= (p.Ser897=)
c.2651C= (p.Ser884=)
c.2063C= (p.Ser688=)
c.1913C= (p.Ser638=)
c.2663C= (p.Ser888=)
c.2669C= (p.Ser890=)
8g.115587011G>TCA4851611TRPS1c.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
8g.115587012A>CCA372064592TRPS1c.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)
8g.115587012A>GCA372064593TRPS1c.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)
8g.115587012A>TCA372064594TRPS1c.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)
8g.115587013C>ACA372064595TRPS1c.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)
8g.115587013C>GCA372064596TRPS1c.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)
8g.115587013C>TCA462658514TRPS1c.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=)
8g.115587014T>ACA372064597TRPS1c.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)
8g.115587014T>CCA372064598TRPS1c.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)
8g.115587014T>GCA372064599TRPS1c.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)
8g.115587015G>ACA372064601TRPS1c.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)
8g.115587015G>CCA372064602TRPS1c.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)
8g.115587015G>TCA372064600TRPS1c.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)
8g.115587016G>ACA462658515TRPS1c.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
8g.115587016G>CCA462658517TRPS1c.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
8g.115587016G=CA1812945263TRPS1c.2685C= (p.Ser895=)
c.2646C= (p.Ser882=)
c.2058C= (p.Ser686=)
c.1908C= (p.Ser636=)
c.2658C= (p.Ser886=)
c.2664C= (p.Ser888=)
8g.115587016G>TCA462658516TRPS1c.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=)
8g.115587017G>ACA372064603TRPS1c.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)
8g.115587017G>CCA372064604TRPS1c.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)
8g.115587017G>TCA372064605TRPS1c.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
8g.115587018A>CCA372064606TRPS1c.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
8g.115587018A>GCA372064607TRPS1c.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
8g.115587018A>TCA372064608TRPS1c.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)
8g.115587019T>ACA372064609TRPS1c.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
8g.115587019T>CCA462658520TRPS1c.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=)
8g.115587019T>GCA372064610TRPS1c.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)
8g.115587019T=CA1812945266TRPS1c.2682A= (p.Glu894=)
c.2643A= (p.Glu881=)
c.2055A= (p.Glu685=)
c.1905A= (p.Glu635=)
c.2655A= (p.Glu885=)
c.2661A= (p.Glu887=)
8g.115587020T>ACA372064611TRPS1c.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)
8g.115587020T>CCA372064612TRPS1c.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)
8g.115587020T>GCA372064613TRPS1c.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)
8g.115587021C>ACA372064614TRPS1c.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)
8g.115587021C>GCA372064615TRPS1c.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)
8g.115587021C>TCA372064616TRPS1c.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
8g.115587022A>CCA372064617TRPS1c.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)
8g.115587022A>GCA462658523TRPS1c.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=)
8g.115587022A>TCA372064618TRPS1c.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)
8g.115587023T>ACA372064619TRPS1c.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)
8g.115587023T>CCA372064620TRPS1c.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)
8g.115587023T>GCA372064621TRPS1c.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)
8g.115587024C>ACA372064622TRPS1c.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)
8g.115587024C>GCA372064623TRPS1c.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)
8g.115587024C>TCA372064624TRPS1c.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)
8g.115587025C>ACA372064625TRPS1c.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
8g.115587025C=CA1812945270TRPS1c.2676G= (p.Lys892=)
c.2637G= (p.Lys879=)
c.2049G= (p.Lys683=)
c.1899G= (p.Lys633=)
c.2649G= (p.Lys883=)
c.2655G= (p.Lys885=)
8g.115587025C>GCA372064626TRPS1c.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)
8g.115587025C>TCA184607457TRPS1c.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
8g.115587026T>ACA372064627TRPS1c.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)
8g.115587026T>CCA372064628TRPS1c.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
8g.115587026T>GCA372064629TRPS1c.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)
8g.115587026T=CA1812945272TRPS1c.2675A= (p.Lys892=)
c.2636A= (p.Lys879=)
c.2048A= (p.Lys683=)
c.1898A= (p.Lys633=)
c.2648A= (p.Lys883=)
c.2654A= (p.Lys885=)
8g.115587027T>ACA372064630TRPS1c.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
8g.115587027T>CCA372064631TRPS1c.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)
8g.115587027T>GCA372064632TRPS1c.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)
8g.115587028G>ACA462658526TRPS1c.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
8g.115587028G>CCA462658528TRPS1c.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=)
8g.115587028G>TCA462658527TRPS1c.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=)
8g.115587029G>ACA372064635TRPS1c.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
8g.115587029G>CCA372064634TRPS1c.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)
8g.115587029G>TCA372064633TRPS1c.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
8g.115587030A>CCA372064636TRPS1c.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)
8g.115587030A>GCA372064637TRPS1c.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)
8g.115587030A>TCA372064638TRPS1c.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)
8g.115587031C>ACA372064639TRPS1c.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)
8g.115587031C>GCA372064640TRPS1c.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)
8g.115587031C>TCA462658530TRPS1c.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
8g.115587032T>ACA372064641TRPS1c.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)
8g.115587032T>CCA372064642TRPS1c.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)
8g.115587032T>GCA372064643TRPS1c.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)
8g.115587033T>ACA372064644TRPS1c.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)
8g.115587033T>CCA372064645TRPS1c.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
8g.115587033T>GCA372064646TRPS1c.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)
8g.115587034G>ACA462658533TRPS1c.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
8g.115587034G>CCA372064647TRPS1c.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)
8g.115587034G>TCA372064648TRPS1c.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)
8g.115587034_115587035delinsGTCA1812945274TRPS1c.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=)
8g.115587035T>ACA372064651TRPS1c.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)
8g.115587035T>CCA372064650TRPS1c.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
8g.115587035T>GCA372064649TRPS1c.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)
8g.115587035T=CA1812945281TRPS1c.2666A= (p.Asn889=)
c.2627A= (p.Asn876=)
c.2039A= (p.Asn680=)
c.1889A= (p.Asn630=)
c.2639A= (p.Asn880=)
c.2645A= (p.Asn882=)
8g.115587038delCA915948699TRPS1c.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
8g.115587036T>ACA372064652TRPS1c.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)
8g.115587036T>CCA372064653TRPS1c.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)
8g.115587036T>GCA372064654TRPS1c.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)
8g.115587037T>ACA372064655TRPS1c.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)
8g.115587037T>CCA462658538TRPS1c.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
8g.115587037T>GCA372064656TRPS1c.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)
8g.115587037T=CA1812945286TRPS1c.2664A= (p.Glu888=)
c.2625A= (p.Glu875=)
c.2037A= (p.Glu679=)
c.1887A= (p.Glu629=)
c.2637A= (p.Glu879=)
c.2643A= (p.Glu881=)
8g.115587038T>ACA372064657TRPS1c.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)
8g.115587038T>CCA372064658TRPS1c.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)
8g.115587038T>GCA372064659TRPS1c.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)
8g.115587039C>ACA372064660TRPS1c.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)
8g.115587039C=CA1812945290TRPS1c.2662G= (p.Glu888=)
c.2623G= (p.Glu875=)
c.2035G= (p.Glu679=)
c.1885G= (p.Glu629=)
c.2635G= (p.Glu879=)
c.2641G= (p.Glu881=)
8g.115587039C>GCA372064661TRPS1c.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)
8g.115587039C>TCA10624623TRPS1c.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
8g.115587040T>ACA462658540TRPS1c.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=)
8g.115587040T>CCA462658541TRPS1c.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=)
8g.115587040T>GCA462658542TRPS1c.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
8g.115587040T=CA1812945294TRPS1c.2661A= (p.Gly887=)
c.2622A= (p.Gly874=)
c.2034A= (p.Gly678=)
c.1884A= (p.Gly628=)
c.2634A= (p.Gly878=)
c.2640A= (p.Gly880=)
8g.115587041C>ACA372064662TRPS1c.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)
8g.115587041C>GCA372064663TRPS1c.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)
8g.115587041C>TCA372064664TRPS1c.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)
8g.115587042C>ACA372064666TRPS1c.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)
8g.115587042C=CA1812945297TRPS1c.2659G= (p.Gly887=)
c.2620G= (p.Gly874=)
c.2032G= (p.Gly678=)
c.1882G= (p.Gly628=)
c.2632G= (p.Gly878=)
c.2638G= (p.Gly880=)
8g.115587042C>GCA4851612TRPS1c.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
8g.115587042C>TCA372064665TRPS1c.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)
8g.115587043C>ACA4851613TRPS1c.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
8g.115587043C=CA1812945302TRPS1c.2658G= (p.Ser886=)
c.2619G= (p.Ser873=)
c.2031G= (p.Ser677=)
c.1881G= (p.Ser627=)
c.2631G= (p.Ser877=)
c.2637G= (p.Ser879=)
8g.115587043C>GCA462658545TRPS1c.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
8g.115587043C>TCA462658546TRPS1c.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
8g.115587044G>ACA4851614TRPS1c.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
8g.115587044G>CCA372064667TRPS1c.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)
8g.115587044G=CA1812945307TRPS1c.2657C= (p.Ser886=)
c.2618C= (p.Ser873=)
c.2030C= (p.Ser677=)
c.1880C= (p.Ser627=)
c.2630C= (p.Ser877=)
c.2636C= (p.Ser879=)
8g.115587044G>TCA372064668TRPS1c.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
8g.115587045A>CCA372064669TRPS1c.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)
8g.115587045A>GCA372064670TRPS1c.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)
8g.115587045A>TCA372064671TRPS1c.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)
8g.115587046T>ACA462658550TRPS1c.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=)
8g.115587046T>CCA462658551TRPS1c.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
8g.115587046T>GCA462658553TRPS1c.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
8g.115587046T=CA1812945309TRPS1c.2655A= (p.Ala885=)
c.2616A= (p.Ala872=)
c.2028A= (p.Ala676=)
c.1878A= (p.Ala626=)
c.2628A= (p.Ala876=)
c.2634A= (p.Ala878=)

Number of alleles fetched