| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.5691449_5691473delinsAAAGGGTAGGTGGGCGCTGCCGGCC | CA2320057933 | RPL36 | c.224_228+20delinsAAAGGGTAGGTGGGCGCTGCCGGCC c.224_248delinsAAAGGGTAGGTGGGCGCTGCCGGCC (p.Lys75=) | |
| 19 | g.5691450_5691473del | CA2320057934 | RPL36 | c.225_228+20del c.225_248del (p.Arg76_Pro83del) | dbSNP |
| 19 | g.5691452_5691530delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA | CA2320057937 | RPL36 | c.227_229-2delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA (n.[c.227_*20delinsGGGTAGGTGGGCGCTGCCGGCCGAGGGGCGGGGTGGGATGGGAGTCAGGGCCGGGCTGACGGCGGCCTCGTCCCTGGCA;Arg76=]) | |
| 19 | g.5691456_5691533del | CA9113817 | RPL36 | c.228+3_230del c.231_*23del (n.[c.231_*23del;Gly79ThrfsTer28]) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.5691455_5691459dup | CA505179855 | RPL36 | c.228+2_228+6dup (n.228+2_228+6dup) c.230_234dup (p.Gly79Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691456del | CA2587404963 | RPL36 | c.228+3del (n.228+3del) c.231del (p.Gly78ValfsTer?) | gnomAD v4 |
| 19 | g.5691456A= | CA2320057940 | RPL36 | c.228+3A= (n.228+3A=) c.231A= (p.Val77=) | |
| 19 | g.5691456A>G | CA304607175 | RPL36 | c.228+3A>G (n.228+3A>G) c.231A>G (p.Val77=) | dbSNP gnomAD v4 |
| 19 | g.5691456A>T | CA992978125 | RPL36 | c.228+3A>T (n.228+3A>T) c.231A>T (p.Val77=) | gnomAD v3 gnomAD v4 |
| 19 | g.5691459_5691477dup | CA920046092 | RPL36 | c.228+6_228+24dup (n.228+6_228+24dup) c.234_252dup (p.Gly85TrpfsTer?) | dbSNP gnomAD v4 |
| 19 | g.5691457G>A | CA403523905 | RPL36 | c.228+4G>A (n.228+4G>A) c.232G>A (p.Gly78Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691457G>C | CA403523906 | RPL36 | c.228+4G>C (n.228+4G>C) c.232G>C (p.Gly78Arg) | |
| 19 | g.5691457G= | CA2320057941 | RPL36 | c.228+4G= (n.228+4G=) c.232G= (p.Gly78=) | |
| 19 | g.5691457G>T | CA403523907 | RPL36 | c.228+4G>T (n.228+4G>T) c.232G>T (p.Gly78Cys) | |
| 19 | g.5691458G>A | CA403523909 | RPL36 | c.228+5G>A (n.228+5G>A) c.233G>A (p.Gly78Asp) | gnomAD v4 |
| 19 | g.5691458G>C | CA403523910 | RPL36 | c.228+5G>C (n.228+5G>C) c.233G>C (p.Gly78Ala) | |
| 19 | g.5691458G>T | CA403523908 | RPL36 | c.228+5G>T (n.228+5G>T) c.233G>T (p.Gly78Val) | |
| 19 | g.5691458_5691459insGACGCACA | CA2587404964 | RPL36 | c.228+5_228+6insGACGCACA (n.228+5_228+6insGACGCACA) c.233_234insGACGCACA (p.Gly79ThrfsTer?) | gnomAD v4 |
| 19 | g.5691459del | CA2587404966 | RPL36 | c.228+6del (n.228+6del) c.234del (p.Arg80AlafsTer?) | gnomAD v4 |
| 19 | g.5691459T>A | CA9113818 | RPL36 | c.228+6T>A (n.228+6T>A) c.234T>A (p.Gly78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691459T>C | CA2587404965 | RPL36 | c.228+6T>C (n.228+6T>C) c.234T>C (p.Gly78=) | gnomAD v4 |
| 19 | g.5691459T>G | CA2320057943 | RPL36 | c.228+6T>G (n.228+6T>G) c.234T>G (p.Gly78=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.5691459T= | CA2320057942 | RPL36 | c.228+6T= (n.228+6T=) c.234T= (p.Gly78=) | |
| 19 | g.5691460G>A | CA403523911 | RPL36 | c.228+7G>A (n.228+7G>A) c.235G>A (p.Gly79Arg) | dbSNP |
| 19 | g.5691460G>C | CA403523912 | RPL36 | c.228+7G>C (n.228+7G>C) c.235G>C (p.Gly79Arg) | |
| 19 | g.5691460G= | CA2320057944 | RPL36 | c.228+7G= (n.228+7G=) c.235G= (p.Gly79=) | |
| 19 | g.5691460G>T | CA403523913 | RPL36 | c.228+7G>T (n.228+7G>T) c.235G>T (p.Gly79Trp) | |
| 19 | g.5691461G>A | CA403523914 | RPL36 | c.228+8G>A (n.228+8G>A) c.236G>A (p.Gly79Glu) | |
| 19 | g.5691461G>C | CA403523915 | RPL36 | c.228+8G>C (n.228+8G>C) c.236G>C (p.Gly79Ala) | |
| 19 | g.5691461G>T | CA403523916 | RPL36 | c.228+8G>T (n.228+8G>T) c.236G>T (p.Gly79Val) | |
| 19 | g.5691461_5691462insAC | CA2587404967 | RPL36 | c.228+8_228+9insAC (n.228+8_228+9insAC) c.236_237insAC (p.Cys81AlafsTer?) | gnomAD v4 |
| 19 | g.5691462G>A | CA2587404968 | RPL36 | c.228+9G>A (n.228+9G>A) c.237G>A (p.Gly79=) | gnomAD v4 |
| 19 | g.5691462G>T | CA2587404969 | RPL36 | c.228+9G>T (n.228+9G>T) c.237G>T (p.Gly79=) | gnomAD v4 |
| 19 | g.5691463C>A | CA403523917 | RPL36 | c.228+10C>A (n.228+10C>A) c.238C>A (p.Arg80Ser) | |
| 19 | g.5691463C= | CA2320057945 | RPL36 | c.228+10C= (n.228+10C=) c.238C= (p.Arg80=) | |
| 19 | g.5691463C>G | CA403523918 | RPL36 | c.228+10C>G (n.228+10C>G) c.238C>G (p.Arg80Gly) | |
| 19 | g.5691463C>T | CA9113819 | RPL36 | c.228+10C>T (n.228+10C>T) c.238C>T (p.Arg80Cys) | dbSNP ExAC gnomAD v4 |
| 19 | g.5691464G>A | CA9113820 | RPL36 | c.228+11G>A (n.228+11G>A) c.239G>A (p.Arg80His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.5691464G>C | CA403523919 | RPL36 | c.228+11G>C (n.228+11G>C) c.239G>C (p.Arg80Pro) | |
| 19 | g.5691464G= | CA2320057946 | RPL36 | c.228+11G= (n.228+11G=) c.239G= (p.Arg80=) | |
| 19 | g.5691464G>T | CA403523920 | RPL36 | c.228+11G>T (n.228+11G>T) c.239G>T (p.Arg80Leu) | |
| 19 | g.5691465C>T | CA2587404970 | RPL36 | c.228+12C>T (n.228+12C>T) c.240C>T (p.Arg80=) | gnomAD v4 |
| 19 | g.5691465_5691466insACA | CA2587404971 | RPL36 | c.228+12_228+13insACA (n.228+12_228+13insACA) c.240_241insACA (p.Arg80_Cys81insThr) | gnomAD v4 |
| 19 | g.5691466T>A | CA403523923 | RPL36 | c.228+13T>A (n.228+13T>A) c.241T>A (p.Cys81Ser) | |
| 19 | g.5691466T>C | CA403523922 | RPL36 | c.228+13T>C (n.228+13T>C) c.241T>C (p.Cys81Arg) | gnomAD v4 |
| 19 | g.5691466T>G | CA403523921 | RPL36 | c.228+13T>G (n.228+13T>G) c.241T>G (p.Cys81Gly) | gnomAD v4 |
| 19 | g.5691467G>A | CA403523924 | RPL36 | c.228+14G>A (n.228+14G>A) c.242G>A (p.Cys81Tyr) | |
| 19 | g.5691467G>C | CA403523925 | RPL36 | c.228+14G>C (n.228+14G>C) c.242G>C (p.Cys81Ser) | |
| 19 | g.5691467G= | CA2320057947 | RPL36 | c.228+14G= (n.228+14G=) c.242G= (p.Cys81=) | |
| 19 | g.5691467G>T | CA9113821 | RPL36 | c.228+14G>T (n.228+14G>T) c.242G>T (p.Cys81Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |