Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.110644586_110644609dup | CA932504919 | RBM20 | c.132_155dup (p.Pro52_Pro53insProProProProGlnProProPro) c.26+1146_26+1169dup (n.26+1146_26+1169dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644592_110644609del | CA2610890753 | RBM20 | c.138_155del (p.Pro47_Pro52del) c.26+1152_26+1169del (n.26+1152_26+1169del) | gnomAD v4 |
10 | g.110644595_110644615dup | CA596022013 | RBM20 | c.141_161dup (p.Pro54_Gln55insProGlnProProProProPro) c.26+1155_26+1175dup (n.26+1155_26+1175dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644595_110644615del | CA596022012 | RBM20 | c.141_161del (p.Pro48_Pro54del) c.26+1155_26+1175del (n.26+1155_26+1175del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644600_110644611del | CA2610890755 | RBM20 | c.146_157del (p.Gln49_Pro52del) c.26+1160_26+1171del (n.26+1160_26+1171del) | gnomAD v4 |
10 | g.110644601_110644618dup | CA2610890756 | RBM20 | c.147_164dup (p.Gln55_Ala56insProProProProProGln) c.26+1161_26+1178dup (n.26+1161_26+1178dup) | gnomAD v4 |
10 | g.110644601_110644618del | CA596022014 | RBM20 | c.147_164del (p.Pro50_Gln55del) c.26+1161_26+1178del (n.26+1161_26+1178del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.110644600_110644605del | CA2610890759 | RBM20 | c.146_151del (p.Gln49_Pro50del) c.26+1160_26+1165del (n.26+1160_26+1165del) | gnomAD v4 |
10 | g.110644600_110644604del | CA2573332820 | RBM20 | c.146_150del (p.Gln49ProfsTer28) c.26+1160_26+1164del (n.26+1160_26+1164del) | dbSNP gnomAD v4 |
10 | g.110644600_110644607del | CA2722991839 | RBM20 | c.146_153del (p.Gln49ProfsTer27) c.26+1160_26+1167del (n.26+1160_26+1167del) | dbSNP |
10 | g.110644604_110644609dup | CA918760099 | RBM20 | c.150_155dup (p.Pro52_Pro53insProPro) c.26+1164_26+1169dup (n.26+1164_26+1169dup) | dbSNP |
10 | g.110644604_110644609del | CA2610890760 | RBM20 | c.150_155del (p.Pro51_Pro52del) c.26+1164_26+1169del (n.26+1164_26+1169del) | gnomAD v4 |
10 | g.110644602_110644619del | CA2610890762 | RBM20 | c.148_165del (p.Pro50_Gln55del) c.26+1162_26+1179del (n.26+1162_26+1179del) | gnomAD v4 |
10 | g.110644604A>C | CA471464262 | RBM20 | c.150A>C (p.Pro50=) c.26+1164A>C (n.26+1164A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644604A>G | CA213903199 | RBM20 | c.150A>G (p.Pro50=) c.26+1164A>G (n.26+1164A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644604A>T | CA133276 | RBM20 | c.150A>T (p.Pro50=) c.26+1164A>T (n.26+1164A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644604_110644607del | CA2497306217 | RBM20 | c.150_153del (p.Pro52ArgfsTer?) c.26+1164_26+1167del (n.26+1164_26+1167del) | ClinVar dbSNP gnomAD v4 |
10 | g.110644605C>A | CA378527871 | RBM20 | c.151C>A (p.Pro51Thr) c.26+1165C>A (n.26+1165C>A) | gnomAD v4 |
10 | g.110644605C>G | CA378527873 | RBM20 | c.151C>G (p.Pro51Ala) c.26+1165C>G (n.26+1165C>G) | |
10 | g.110644605C>T | CA378527875 | RBM20 | c.151C>T (p.Pro51Ser) c.26+1165C>T (n.26+1165C>T) | ClinVar dbSNP gnomAD v4 |
10 | g.110644612_110644617dup | CA596022015 | RBM20 | c.158_163dup (p.Pro54_Gln55insProPro) c.26+1172_26+1177dup (n.26+1172_26+1177dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644612_110644617del | CA2610890763 | RBM20 | c.158_163del (p.Pro53_Pro54del) c.26+1172_26+1177del (n.26+1172_26+1177del) | gnomAD v4 |
10 | g.110644606C>A | CA378527880 | RBM20 | c.152C>A (p.Pro51Gln) c.26+1166C>A (n.26+1166C>A) | gnomAD v4 |
10 | g.110644606C>G | CA378527884 | RBM20 | c.152C>G (p.Pro51Arg) c.26+1166C>G (n.26+1166C>G) | |
10 | g.110644606C>T | CA378527882 | RBM20 | c.152C>T (p.Pro51Leu) c.26+1166C>T (n.26+1166C>T) | gnomAD v4 |
10 | g.110644607G>A | CA471464264 | RBM20 | c.153G>A (p.Pro51=) c.26+1167G>A (n.26+1167G>A) | gnomAD v4 |
10 | g.110644607G>C | CA471464263 | RBM20 | c.153G>C (p.Pro51=) c.26+1167G>C (n.26+1167G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644607G>T | CA5688492 | RBM20 | c.153G>T (p.Pro51=) c.26+1167G>T (n.26+1167G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644608C>A | CA378527886 | RBM20 | c.154C>A (p.Pro52Thr) c.26+1168C>A (n.26+1168C>A) | ClinVar dbSNP gnomAD v4 |
10 | g.110644608C>G | CA378527887 | RBM20 | c.154C>G (p.Pro52Ala) c.26+1168C>G (n.26+1168C>G) | |
10 | g.110644608C>T | CA378527889 | RBM20 | c.154C>T (p.Pro52Ser) c.26+1168C>T (n.26+1168C>T) | gnomAD v4 |
10 | g.110644612dup | CA2610890765 | RBM20 | c.158dup (p.Pro54AlafsTer25) c.26+1172dup (n.26+1172dup) | gnomAD v4 |
10 | g.110644612del | CA2610890764 | RBM20 | c.158del (p.Pro53ArgfsTer?) c.26+1172del (n.26+1172del) | gnomAD v4 |
10 | g.110644609C>A | CA378527891 | RBM20 | c.155C>A (p.Pro52His) c.26+1169C>A (n.26+1169C>A) | gnomAD v4 |
10 | g.110644609C>G | CA378527894 | RBM20 | c.155C>G (p.Pro52Arg) c.26+1169C>G (n.26+1169C>G) | dbSNP |
10 | g.110644609C>T | CA378527892 | RBM20 | c.155C>T (p.Pro52Leu) c.26+1169C>T (n.26+1169C>T) | ClinVar gnomAD v4 |
10 | g.110644610C>A | CA471464266 | RBM20 | c.156C>A (p.Pro52=) c.26+1170C>A (n.26+1170C>A) | dbSNP gnomAD v2 |
10 | g.110644610C>G | CA471464268 | RBM20 | c.156C>G (p.Pro52=) c.26+1170C>G (n.26+1170C>G) | dbSNP gnomAD v4 |
10 | g.110644610C>T | CA471464267 | RBM20 | c.156C>T (p.Pro52=) c.26+1170C>T (n.26+1170C>T) | gnomAD v4 |
10 | g.110644612_110644613insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC | CA1139770291 | RBM20 | c.158_159insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC (p.Pro53_Pro54insProProProProProProProProProHisPro) c.26+1172_26+1173insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC (n.26+1172_26+1173insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCC) | |
10 | g.110644611C>A | CA378527896 | RBM20 | c.157C>A (p.Pro53Thr) c.26+1171C>A (n.26+1171C>A) | gnomAD v4 |
10 | g.110644611C>G | CA378527898 | RBM20 | c.157C>G (p.Pro53Ala) c.26+1171C>G (n.26+1171C>G) | gnomAD v4 |
10 | g.110644611C>T | CA378527899 | RBM20 | c.157C>T (p.Pro53Ser) c.26+1171C>T (n.26+1171C>T) | gnomAD v4 |
10 | g.110644612C>A | CA5688493 | RBM20 | c.158C>A (p.Pro53Gln) c.26+1172C>A (n.26+1172C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.110644612C>G | CA378527902 | RBM20 | c.158C>G (p.Pro53Arg) c.26+1172C>G (n.26+1172C>G) | gnomAD v4 |
10 | g.110644612C>T | CA378527904 | RBM20 | c.158C>T (p.Pro53Leu) c.26+1172C>T (n.26+1172C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.110644612_110644613insCCCCCCCCCCCCCCCCCCAC | CA1139770110 | RBM20 | c.158_159insCCCCCCCCCCCCCCCCCCAC (p.Gln55ProfsTer?) c.26+1172_26+1173insCCCCCCCCCCCCCCCCCCAC (n.26+1172_26+1173insCCCCCCCCCCCCCCCCCCAC) | |
10 | g.110644613G>A | CA471464270 | RBM20 | c.159G>A (p.Pro53=) c.26+1173G>A (n.26+1173G>A) | gnomAD v4 |
10 | g.110644613G>C | CA471464272 | RBM20 | c.159G>C (p.Pro53=) c.26+1173G>C (n.26+1173G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.110644613G>T | CA471464273 | RBM20 | c.159G>T (p.Pro53=) c.26+1173G>T (n.26+1173G>T) | ClinVar gnomAD v4 |