| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
| 15 | g.89211706del | CA2575831877 | RLBP1 | c.684+37del (n.684+37del) c.101+37del c.*262+37del (n.*262+37del) c.609+37del (n.609+37del) c.711+37del (n.711+37del) | gnomAD v4 |
| 15 | g.89211706G>A | CA2630242552 | RLBP1 | c.684+37C>T (n.684+37C>T) c.101+37C>T c.*262+37C>T (n.*262+37C>T) c.609+37C>T (n.609+37C>T) c.711+37C>T (n.711+37C>T) | gnomAD v4 |
| 15 | g.89211706G>T | CA2630242553 | RLBP1 | c.684+37C>A (n.684+37C>A) c.101+37C>A c.*262+37C>A (n.*262+37C>A) c.609+37C>A (n.609+37C>A) c.711+37C>A (n.711+37C>A) | gnomAD v4 |
| 15 | g.89211707del | CA2575831878 | RLBP1 | c.684+36del (n.684+36del) c.101+36del c.*262+36del (n.*262+36del) c.609+36del (n.609+36del) c.711+36del (n.711+36del) | gnomAD v4 |
| 15 | g.89211707T>C | CA2630242555 | RLBP1 | c.684+36A>G (n.684+36A>G) c.101+36A>G c.*262+36A>G (n.*262+36A>G) c.609+36A>G (n.609+36A>G) c.711+36A>G (n.711+36A>G) | gnomAD v4 |
| 15 | g.89211707T>G | CA2630242556 | RLBP1 | c.684+36A>C (n.684+36A>C) c.101+36A>C c.*262+36A>C (n.*262+36A>C) c.609+36A>C (n.609+36A>C) c.711+36A>C (n.711+36A>C) | gnomAD v4 |
| 15 | g.89211708G>A | CA7722218 | RLBP1 | c.684+35C>T (n.684+35C>T) c.101+35C>T c.*262+35C>T (n.*262+35C>T) c.609+35C>T (n.609+35C>T) c.711+35C>T (n.711+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211708G= | CA2194510056 | RLBP1 | c.684+35C= (n.684+35C=) c.101+35C= c.*262+35C= (n.*262+35C=) c.609+35C= (n.609+35C=) c.711+35C= (n.711+35C=) | |
| 15 | g.89211708G>T | CA2630242558 | RLBP1 | c.684+35C>A (n.684+35C>A) c.101+35C>A c.*262+35C>A (n.*262+35C>A) c.609+35C>A (n.609+35C>A) c.711+35C>A (n.711+35C>A) | gnomAD v4 |
| 15 | g.89211710del | CA2630242557 | RLBP1 | c.684+35del (n.684+35del) c.101+35del c.*262+35del (n.*262+35del) c.609+35del (n.609+35del) c.711+35del (n.711+35del) | gnomAD v4 |
| 15 | g.89211709G>C | CA2630242559 | RLBP1 | c.684+34C>G (n.684+34C>G) c.101+34C>G c.*262+34C>G (n.*262+34C>G) c.609+34C>G (n.609+34C>G) c.711+34C>G (n.711+34C>G) | gnomAD v4 |
| 15 | g.89211710G>A | CA619857178 | RLBP1 | c.684+33C>T (n.684+33C>T) c.101+33C>T c.*262+33C>T (n.*262+33C>T) c.609+33C>T (n.609+33C>T) c.711+33C>T (n.711+33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211710G= | CA2194510058 | RLBP1 | c.684+33C= (n.684+33C=) c.101+33C= c.*262+33C= (n.*262+33C=) c.609+33C= (n.609+33C=) c.711+33C= (n.711+33C=) | |
| 15 | g.89211711A>G | CA2630242560 | RLBP1 | c.684+32T>C (n.684+32T>C) c.101+32T>C c.*262+32T>C (n.*262+32T>C) c.609+32T>C (n.609+32T>C) c.711+32T>C (n.711+32T>C) | gnomAD v4 |
| 15 | g.89211712G>C | CA7722219 | RLBP1 | c.684+31C>G (n.684+31C>G) c.101+31C>G c.*262+31C>G (n.*262+31C>G) c.609+31C>G (n.609+31C>G) c.711+31C>G (n.711+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211712G= | CA2194510061 | RLBP1 | c.684+31C= (n.684+31C=) c.101+31C= c.*262+31C= (n.*262+31C=) c.609+31C= (n.609+31C=) c.711+31C= (n.711+31C=) | |
| 15 | g.89211713G>T | CA2630242561 | RLBP1 | c.684+30C>A (n.684+30C>A) c.101+30C>A c.*262+30C>A (n.*262+30C>A) c.609+30C>A (n.609+30C>A) c.711+30C>A (n.711+30C>A) | gnomAD v4 |
| 15 | g.89211714C>T | CA2630242562 | RLBP1 | c.684+29G>A (n.684+29G>A) c.101+29G>A c.*262+29G>A (n.*262+29G>A) c.609+29G>A (n.609+29G>A) c.711+29G>A (n.711+29G>A) | gnomAD v4 |
| 15 | g.89211715T>C | CA7722220 | RLBP1 | c.684+28A>G (n.684+28A>G) c.101+28A>G c.*262+28A>G (n.*262+28A>G) c.609+28A>G (n.609+28A>G) c.711+28A>G (n.711+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211715T= | CA2194510063 | RLBP1 | c.684+28A= (n.684+28A=) c.101+28A= c.*262+28A= (n.*262+28A=) c.609+28A= (n.609+28A=) c.711+28A= (n.711+28A=) | |
| 15 | g.89211716G>T | CA2630242563 | RLBP1 | c.684+27C>A (n.684+27C>A) c.101+27C>A c.*262+27C>A (n.*262+27C>A) c.609+27C>A (n.609+27C>A) c.711+27C>A (n.711+27C>A) | gnomAD v4 |
| 15 | g.89211717C= | CA2194510069 | RLBP1 | c.684+26G= (n.684+26G=) c.101+26G= c.*262+26G= (n.*262+26G=) c.609+26G= (n.609+26G=) c.711+26G= (n.711+26G=) | |
| 15 | g.89211717C>G | CA274532557 | RLBP1 | c.684+26G>C (n.684+26G>C) c.101+26G>C c.*262+26G>C (n.*262+26G>C) c.609+26G>C (n.609+26G>C) c.711+26G>C (n.711+26G>C) | dbSNP |
| 15 | g.89211717C>T | CA7722221 | RLBP1 | c.684+26G>A (n.684+26G>A) c.101+26G>A c.*262+26G>A (n.*262+26G>A) c.609+26G>A (n.609+26G>A) c.711+26G>A (n.711+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211718C= | CA2194510073 | RLBP1 | c.684+25G= (n.684+25G=) c.101+25G= c.*262+25G= (n.*262+25G=) c.609+25G= (n.609+25G=) c.711+25G= (n.711+25G=) | |
| 15 | g.89211718C>T | CA7722222 | RLBP1 | c.684+25G>A (n.684+25G>A) c.101+25G>A c.*262+25G>A (n.*262+25G>A) c.609+25G>A (n.609+25G>A) c.711+25G>A (n.711+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211719G>A | CA7722224 | RLBP1 | c.684+24C>T (n.684+24C>T) c.101+24C>T c.*262+24C>T (n.*262+24C>T) c.609+24C>T (n.609+24C>T) c.711+24C>T (n.711+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211719G= | CA2194510077 | RLBP1 | c.684+24C= (n.684+24C=) c.101+24C= c.*262+24C= (n.*262+24C=) c.609+24C= (n.609+24C=) c.711+24C= (n.711+24C=) | |
| 15 | g.89211719G>T | CA7722223 | RLBP1 | c.684+24C>A (n.684+24C>A) c.101+24C>A c.*262+24C>A (n.*262+24C>A) c.609+24C>A (n.609+24C>A) c.711+24C>A (n.711+24C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211720T>C | CA2194510079 | RLBP1 | c.684+23A>G (n.684+23A>G) c.101+23A>G c.*262+23A>G (n.*262+23A>G) c.609+23A>G (n.609+23A>G) c.711+23A>G (n.711+23A>G) | dbSNP gnomAD v4 |
| 15 | g.89211720T= | CA2194510078 | RLBP1 | c.684+23A= (n.684+23A=) c.101+23A= c.*262+23A= (n.*262+23A=) c.609+23A= (n.609+23A=) c.711+23A= (n.711+23A=) | |
| 15 | g.89211720_89211721delinsTG | CA2194510081 | RLBP1 | c.684+22_684+23delinsCA (n.684+22_684+23delinsCA) c.101+22_101+23delinsCA c.*262+22_*262+23delinsCA (n.*262+22_*262+23delinsCA) c.609+22_609+23delinsCA (n.609+22_609+23delinsCA) c.711+22_711+23delinsCA (n.711+22_711+23delinsCA) | |
| 15 | g.89211721del | CA2194510085 | RLBP1 | c.684+22del (n.684+22del) c.101+22del c.*262+22del (n.*262+22del) c.609+22del (n.609+22del) c.711+22del (n.711+22del) | dbSNP |
| 15 | g.89211722C>A | CA2630242564 | RLBP1 | c.684+21G>T (n.684+21G>T) c.101+21G>T c.*262+21G>T (n.*262+21G>T) c.609+21G>T (n.609+21G>T) c.711+21G>T (n.711+21G>T) | gnomAD v4 |
| 15 | g.89211722C= | CA2194510090 | RLBP1 | c.684+21G= (n.684+21G=) c.101+21G= c.*262+21G= (n.*262+21G=) c.609+21G= (n.609+21G=) c.711+21G= (n.711+21G=) | |
| 15 | g.89211722C>T | CA7722225 | RLBP1 | c.684+21G>A (n.684+21G>A) c.101+21G>A c.*262+21G>A (n.*262+21G>A) c.609+21G>A (n.609+21G>A) c.711+21G>A (n.711+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211723G>A | CA7722226 | RLBP1 | c.684+20C>T (n.684+20C>T) c.101+20C>T c.*262+20C>T (n.*262+20C>T) c.609+20C>T (n.609+20C>T) c.711+20C>T (n.711+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211723G>C | CA2581198552 | RLBP1 | c.684+20C>G (n.684+20C>G) c.101+20C>G c.*262+20C>G (n.*262+20C>G) c.609+20C>G (n.609+20C>G) c.711+20C>G (n.711+20C>G) | |
| 15 | g.89211723G= | CA2194510095 | RLBP1 | c.684+20C= (n.684+20C=) c.101+20C= c.*262+20C= (n.*262+20C=) c.609+20C= (n.609+20C=) c.711+20C= (n.711+20C=) | |
| 15 | g.89211723G>T | CA2581198551 | RLBP1 | c.684+20C>A (n.684+20C>A) c.101+20C>A c.*262+20C>A (n.*262+20C>A) c.609+20C>A (n.609+20C>A) c.711+20C>A (n.711+20C>A) | |
| 15 | g.89211724A>G | CA2630242566 | RLBP1 | c.684+19T>C (n.684+19T>C) c.101+19T>C c.*262+19T>C (n.*262+19T>C) c.609+19T>C (n.609+19T>C) c.711+19T>C (n.711+19T>C) | gnomAD v4 |
| 15 | g.89211725C= | CA2194510098 | RLBP1 | c.684+18G= (n.684+18G=) c.101+18G= c.*262+18G= (n.*262+18G=) c.609+18G= (n.609+18G=) c.711+18G= (n.711+18G=) | |
| 15 | g.89211725C>T | CA2194510100 | RLBP1 | c.684+18G>A (n.684+18G>A) c.101+18G>A c.*262+18G>A (n.*262+18G>A) c.609+18G>A (n.609+18G>A) c.711+18G>A (n.711+18G>A) | dbSNP gnomAD v4 |
| 15 | g.89211726A>C | CA2630242567 | RLBP1 | c.684+17T>G (n.684+17T>G) c.101+17T>G c.*262+17T>G (n.*262+17T>G) c.609+17T>G (n.609+17T>G) c.711+17T>G (n.711+17T>G) | gnomAD v4 |
| 15 | g.89211727G>A | CA2630242568 | RLBP1 | c.684+16C>T (n.684+16C>T) c.101+16C>T c.*262+16C>T (n.*262+16C>T) c.609+16C>T (n.609+16C>T) c.711+16C>T (n.711+16C>T) | gnomAD v4 |
| 15 | g.89211730C= | CA2194510101 | RLBP1 | c.684+13G= (n.684+13G=) c.101+13G= c.*262+13G= (n.*262+13G=) c.609+13G= (n.609+13G=) c.711+13G= (n.711+13G=) | |
| 15 | g.89211730C>T | CA2194510113 | RLBP1 | c.684+13G>A (n.684+13G>A) c.101+13G>A c.*262+13G>A (n.*262+13G>A) c.609+13G>A (n.609+13G>A) c.711+13G>A (n.711+13G>A) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89211731T>A | CA2630242569 | RLBP1 | c.684+12A>T (n.684+12A>T) c.101+12A>T c.*262+12A>T (n.*262+12A>T) c.609+12A>T (n.609+12A>T) c.711+12A>T (n.711+12A>T) | gnomAD v4 |
| 15 | g.89211731T>G | CA2194510119 | RLBP1 | c.684+12A>C (n.684+12A>C) c.101+12A>C c.*262+12A>C (n.*262+12A>C) c.609+12A>C (n.609+12A>C) c.711+12A>C (n.711+12A>C) | dbSNP gnomAD v4 |
| 15 | g.89211731T= | CA2194510117 | RLBP1 | c.684+12A= (n.684+12A=) c.101+12A= c.*262+12A= (n.*262+12A=) c.609+12A= (n.609+12A=) c.711+12A= (n.711+12A=) | |
| 15 | g.89211732C= | CA2194510121 | RLBP1 | c.684+11G= (n.684+11G=) c.101+11G= c.*262+11G= (n.*262+11G=) c.609+11G= (n.609+11G=) c.711+11G= (n.711+11G=) | |
| 15 | g.89211732C>T | CA619857179 | RLBP1 | c.684+11G>A (n.684+11G>A) c.101+11G>A c.*262+11G>A (n.*262+11G>A) c.609+11G>A (n.609+11G>A) c.711+11G>A (n.711+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211734A= | CA2194510130 | RLBP1 | c.684+9T= (n.684+9T=) c.101+9T= c.*262+9T= (n.*262+9T=) c.609+9T= (n.609+9T=) c.711+9T= (n.711+9T=) | |
| 15 | g.89211734A>G | CA619857180 | RLBP1 | c.684+9T>C (n.684+9T>C) c.101+9T>C c.*262+9T>C (n.*262+9T>C) c.609+9T>C (n.609+9T>C) c.711+9T>C (n.711+9T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211736G>C | CA274532587 | RLBP1 | c.684+7C>G (n.684+7C>G) c.101+7C>G c.*262+7C>G (n.*262+7C>G) c.609+7C>G (n.609+7C>G) c.711+7C>G (n.711+7C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211736G= | CA2194510138 | RLBP1 | c.684+7C= (n.684+7C=) c.101+7C= c.*262+7C= (n.*262+7C=) c.609+7C= (n.609+7C=) c.711+7C= (n.711+7C=) | |
| 15 | g.89211737C>A | CA2630242572 | RLBP1 | c.684+6G>T (n.684+6G>T) c.101+6G>T c.*262+6G>T (n.*262+6G>T) c.609+6G>T (n.609+6G>T) c.711+6G>T (n.711+6G>T) | gnomAD v4 |
| 15 | g.89211737C= | CA2194510142 | RLBP1 | c.684+6G= (n.684+6G=) c.101+6G= c.*262+6G= (n.*262+6G=) c.609+6G= (n.609+6G=) c.711+6G= (n.711+6G=) | |
| 15 | g.89211737C>G | CA7722227 | RLBP1 | c.684+6G>C (n.684+6G>C) c.101+6G>C c.*262+6G>C (n.*262+6G>C) c.609+6G>C (n.609+6G>C) c.711+6G>C (n.711+6G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211738C>T | CA2630242573 | RLBP1 | c.684+5G>A (n.684+5G>A) c.101+5G>A c.*262+5G>A (n.*262+5G>A) c.609+5G>A (n.609+5G>A) c.711+5G>A (n.711+5G>A) | gnomAD v4 |
| 15 | g.89211739T>C | CA2630242574 | RLBP1 | c.684+4A>G (n.684+4A>G) c.101+4A>G c.*262+4A>G (n.*262+4A>G) c.609+4A>G (n.609+4A>G) c.711+4A>G (n.711+4A>G) | gnomAD v4 |
| 15 | g.89211740C= | CA2194510148 | RLBP1 | c.684+3G= (n.684+3G=) c.101+3G= c.*262+3G= (n.*262+3G=) c.609+3G= (n.609+3G=) c.711+3G= (n.711+3G=) | |
| 15 | g.89211740C>G | CA619857181 | RLBP1 | c.684+3G>C (n.684+3G>C) c.101+3G>C c.*262+3G>C (n.*262+3G>C) c.609+3G>C (n.609+3G>C) c.711+3G>C (n.711+3G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211740C>T | CA619857182 | RLBP1 | c.684+3G>A (n.684+3G>A) c.101+3G>A c.*262+3G>A (n.*262+3G>A) c.609+3G>A (n.609+3G>A) c.711+3G>A (n.711+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211741A>C | CA393728953 | RLBP1 | c.684+2T>G (n.684+2T>G) c.101+2T>G c.*262+2T>G (n.*262+2T>G) c.609+2T>G (n.609+2T>G) c.711+2T>G (n.711+2T>G) | |
| 15 | g.89211741A>G | CA393728954 | RLBP1 | c.684+2T>C (n.684+2T>C) c.101+2T>C c.*262+2T>C (n.*262+2T>C) c.609+2T>C (n.609+2T>C) c.711+2T>C (n.711+2T>C) | |
| 15 | g.89211741A>T | CA393728955 | RLBP1 | c.684+2T>A (n.684+2T>A) c.101+2T>A c.*262+2T>A (n.*262+2T>A) c.609+2T>A (n.609+2T>A) c.711+2T>A (n.711+2T>A) | |
| 15 | g.89211741_89211742delinsAC | CA2194510153 | RLBP1 | c.684+1_684+2delinsGT (n.684+1_684+2delinsGT) c.101+1_101+2delinsGT c.*262+1_*262+2delinsGT (n.*262+1_*262+2delinsGT) c.609+1_609+2delinsGT (n.609+1_609+2delinsGT) c.711+1_711+2delinsGT (n.711+1_711+2delinsGT) | |
| 15 | g.89211742C>A | CA393728957 | RLBP1 | c.684+1G>T (n.684+1G>T) c.101+1G>T c.*262+1G>T (n.*262+1G>T) c.609+1G>T (n.609+1G>T) c.711+1G>T (n.711+1G>T) | |
| 15 | g.89211742C>G | CA393728958 | RLBP1 | c.684+1G>C (n.684+1G>C) c.101+1G>C c.*262+1G>C (n.*262+1G>C) c.609+1G>C (n.609+1G>C) c.711+1G>C (n.711+1G>C) | |
| 15 | g.89211742C>T | CA393728956 | RLBP1 | c.684+1G>A (n.684+1G>A) c.101+1G>A c.*262+1G>A (n.*262+1G>A) c.609+1G>A (n.609+1G>A) c.711+1G>A (n.711+1G>A) | |
| 15 | g.89211743del | CA619857183 | RLBP1 | c.684+1del c.101+1del c.*262+1del c.609+1del c.711+1del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211743C>A | CA393728959 | RLBP1 | c.684G>T (p.Gln228His) c.101G>T c.*262G>T (n.*262G>T) c.609G>T (p.Gln203His) c.711G>T (p.Gln237His) | |
| 15 | g.89211743C= | CA2194510160 | RLBP1 | c.684G= (p.Gln228=) c.101G= c.*262G= (n.*262G=) c.609G= (p.Gln203=) c.711G= (p.Gln237=) | |
| 15 | g.89211743C>G | CA393728960 | RLBP1 | c.684G>C (p.Gln228His) c.101G>C c.*262G>C (n.*262G>C) c.609G>C (p.Gln203His) c.711G>C (p.Gln237His) | |
| 15 | g.89211743C>T | CA492075798 | RLBP1 | c.684G>A (p.Gln228=) c.101G>A c.*262G>A (n.*262G>A) c.609G>A (p.Gln203=) c.711G>A (p.Gln237=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211744T>A | CA393728961 | RLBP1 | c.683A>T (p.Gln228Leu) c.100A>T c.*261A>T (n.*261A>T) c.608A>T (p.Gln203Leu) c.710A>T (p.Gln237Leu) | |
| 15 | g.89211744T>C | CA7722228 | RLBP1 | c.683A>G (p.Gln228Arg) c.100A>G c.*261A>G (n.*261A>G) c.608A>G (p.Gln203Arg) c.710A>G (p.Gln237Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89211744T>G | CA393728962 | RLBP1 | c.683A>C (p.Gln228Pro) c.100A>C c.*261A>C (n.*261A>C) c.608A>C (p.Gln203Pro) c.710A>C (p.Gln237Pro) | |
| 15 | g.89211744T= | CA2194510170 | RLBP1 | c.683A= (p.Gln228=) c.100A= c.*261A= (n.*261A=) c.608A= (p.Gln203=) c.710A= (p.Gln237=) | |
| 15 | g.89211745G>A | CA393728963 | RLBP1 | c.682C>T (p.Gln228Ter) c.99C>T c.*260C>T (n.*260C>T) c.607C>T (p.Gln203Ter) c.709C>T (p.Gln237Ter) | gnomAD v4 |
| 15 | g.89211745G>C | CA393728964 | RLBP1 | c.682C>G (p.Gln228Glu) c.99C>G c.*260C>G (n.*260C>G) c.607C>G (p.Gln203Glu) c.709C>G (p.Gln237Glu) | |
| 15 | g.89211745G>T | CA393728965 | RLBP1 | c.682C>A (p.Gln228Lys) c.99C>A c.*260C>A (n.*260C>A) c.607C>A (p.Gln203Lys) c.709C>A (p.Gln237Lys) | |
| 15 | g.89211746G>A | CA492075818 | RLBP1 | c.681C>T (p.Leu227=) c.98C>T c.*259C>T (n.*259C>T) c.606C>T (p.Leu202=) c.708C>T (p.Leu236=) | |
| 15 | g.89211746G>C | CA492075820 | RLBP1 | c.681C>G (p.Leu227=) c.98C>G c.*259C>G (n.*259C>G) c.606C>G (p.Leu202=) c.708C>G (p.Leu236=) | gnomAD v4 |
| 15 | g.89211746G= | CA2194510176 | RLBP1 | c.681C= (p.Leu227=) c.98C= c.*259C= (n.*259C=) c.606C= (p.Leu202=) c.708C= (p.Leu236=) | |
| 15 | g.89211746G>T | CA7722229 | RLBP1 | c.681C>A (p.Leu227=) c.98C>A c.*259C>A (n.*259C>A) c.606C>A (p.Leu202=) c.708C>A (p.Leu236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211747A>C | CA393728966 | RLBP1 | c.680T>G (p.Leu227Arg) c.97T>G c.*258T>G (n.*258T>G) c.605T>G (p.Leu202Arg) c.707T>G (p.Leu236Arg) | |
| 15 | g.89211747A>G | CA393728967 | RLBP1 | c.680T>C (p.Leu227Pro) c.97T>C c.*258T>C (n.*258T>C) c.605T>C (p.Leu202Pro) c.707T>C (p.Leu236Pro) | |
| 15 | g.89211747A>T | CA393728968 | RLBP1 | c.680T>A (p.Leu227His) c.97T>A c.*258T>A (n.*258T>A) c.605T>A (p.Leu202His) c.707T>A (p.Leu236His) | |
| 15 | g.89211748G>A | CA393728970 | RLBP1 | c.679C>T (p.Leu227Phe) c.96C>T c.*257C>T (n.*257C>T) c.604C>T (p.Leu202Phe) c.706C>T (p.Leu236Phe) | |
| 15 | g.89211748G>C | CA393728971 | RLBP1 | c.679C>G (p.Leu227Val) c.96C>G c.*257C>G (n.*257C>G) c.604C>G (p.Leu202Val) c.706C>G (p.Leu236Val) | |
| 15 | g.89211748G>T | CA393728969 | RLBP1 | c.679C>A (p.Leu227Ile) c.96C>A c.*257C>A (n.*257C>A) c.604C>A (p.Leu202Ile) c.706C>A (p.Leu236Ile) | |
| 15 | g.89211749C>A | CA393728972 | RLBP1 | c.678G>T (p.Met226Ile) c.95G>T c.*256G>T (n.*256G>T) c.603G>T (p.Met201Ile) c.705G>T (p.Met235Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211749C= | CA2194510177 | RLBP1 | c.678G= (p.Met226=) c.95G= c.*256G= (n.*256G=) c.603G= (p.Met201=) c.705G= (p.Met235=) | |
| 15 | g.89211749C>G | CA393728973 | RLBP1 | c.678G>C (p.Met226Ile) c.95G>C c.*256G>C (n.*256G>C) c.603G>C (p.Met201Ile) c.705G>C (p.Met235Ile) | gnomAD v4 COSMIC |
| 15 | g.89211749C>T | CA393728974 | RLBP1 | c.678G>A (p.Met226Ile) c.95G>A c.*256G>A (n.*256G>A) c.603G>A (p.Met201Ile) c.705G>A (p.Met235Ile) | dbSNP gnomAD v4 |
| 15 | g.89211750A= | CA2194510183 | RLBP1 | c.677T= (p.Met226=) c.94T= c.*255T= (n.*255T=) c.602T= (p.Met201=) c.704T= (p.Met235=) | |
| 15 | g.89211750A>C | CA393728975 | RLBP1 | c.677T>G (p.Met226Arg) c.94T>G c.*255T>G (n.*255T>G) c.602T>G (p.Met201Arg) c.704T>G (p.Met235Arg) | gnomAD v4 |
| 15 | g.89211750A>G | CA393728976 | RLBP1 | c.677T>C (p.Met226Thr) c.94T>C c.*255T>C (n.*255T>C) c.602T>C (p.Met201Thr) c.704T>C (p.Met235Thr) | gnomAD v4 |
| 15 | g.89211750A>T | CA122840 | RLBP1 | c.677T>A (p.Met226Lys) c.94T>A c.*255T>A (n.*255T>A) c.602T>A (p.Met201Lys) c.704T>A (p.Met235Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211751T>A | CA393728977 | RLBP1 | c.676A>T (p.Met226Leu) c.93A>T c.*254A>T (n.*254A>T) c.601A>T (p.Met201Leu) c.703A>T (p.Met235Leu) | |
| 15 | g.89211751T>C | CA393728979 | RLBP1 | c.676A>G (p.Met226Val) c.93A>G c.*254A>G (n.*254A>G) c.601A>G (p.Met201Val) c.703A>G (p.Met235Val) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211751T>G | CA393728978 | RLBP1 | c.676A>C (p.Met226Leu) c.93A>C c.*254A>C (n.*254A>C) c.601A>C (p.Met201Leu) c.703A>C (p.Met235Leu) | ClinVar dbSNP gnomAD v4 |
| 15 | g.89211751T= | CA2194510188 | RLBP1 | c.676A= (p.Met226=) c.93A= c.*254A= (n.*254A=) c.601A= (p.Met201=) c.703A= (p.Met235=) | |
| 15 | g.89211752G>A | CA492075852 | RLBP1 | c.675C>T (p.Asp225=) c.92C>T c.*253C>T (n.*253C>T) c.600C>T (p.Asp200=) c.702C>T (p.Asp234=) | gnomAD v4 |
| 15 | g.89211752G>C | CA393728980 | RLBP1 | c.675C>G (p.Asp225Glu) c.92C>G c.*253C>G (n.*253C>G) c.600C>G (p.Asp200Glu) c.702C>G (p.Asp234Glu) | |
| 15 | g.89211752G>T | CA393728981 | RLBP1 | c.675C>A (p.Asp225Glu) c.92C>A c.*253C>A (n.*253C>A) c.600C>A (p.Asp200Glu) c.702C>A (p.Asp234Glu) | |
| 15 | g.89211753T>A | CA393728982 | RLBP1 | c.674A>T (p.Asp225Val) c.91A>T c.*252A>T (n.*252A>T) c.599A>T (p.Asp200Val) c.701A>T (p.Asp234Val) | |
| 15 | g.89211753T>C | CA393728983 | RLBP1 | c.674A>G (p.Asp225Gly) c.91A>G c.*252A>G (n.*252A>G) c.599A>G (p.Asp200Gly) c.701A>G (p.Asp234Gly) | |
| 15 | g.89211753T>G | CA393728984 | RLBP1 | c.674A>C (p.Asp225Ala) c.91A>C c.*252A>C (n.*252A>C) c.599A>C (p.Asp200Ala) c.701A>C (p.Asp234Ala) | |
| 15 | g.89211754C>A | CA393728986 | RLBP1 | c.673G>T (p.Asp225Tyr) c.90G>T c.*251G>T (n.*251G>T) c.598G>T (p.Asp200Tyr) c.700G>T (p.Asp234Tyr) | |
| 15 | g.89211754C>G | CA393728987 | RLBP1 | c.673G>C (p.Asp225His) c.90G>C c.*251G>C (n.*251G>C) c.598G>C (p.Asp200His) c.700G>C (p.Asp234His) | |
| 15 | g.89211754C>T | CA393728985 | RLBP1 | c.673G>A (p.Asp225Asn) c.90G>A c.*251G>A (n.*251G>A) c.598G>A (p.Asp200Asn) c.700G>A (p.Asp234Asn) | |
| 15 | g.89211755C>A | CA492075866 | RLBP1 | c.672G>T (p.Val224=) c.89G>T c.*250G>T (n.*250G>T) c.597G>T (p.Val199=) c.699G>T (p.Val233=) | |
| 15 | g.89211755C>G | CA492075869 | RLBP1 | c.672G>C (p.Val224=) c.89G>C c.*250G>C (n.*250G>C) c.597G>C (p.Val199=) c.699G>C (p.Val233=) | |
| 15 | g.89211755C>T | CA492075867 | RLBP1 | c.672G>A (p.Val224=) c.89G>A c.*250G>A (n.*250G>A) c.597G>A (p.Val199=) c.699G>A (p.Val233=) | |
| 15 | g.89211756A>C | CA393728989 | RLBP1 | c.671T>G (p.Val224Gly) c.88T>G c.*249T>G (n.*249T>G) c.596T>G (p.Val199Gly) c.698T>G (p.Val233Gly) | gnomAD v4 |
| 15 | g.89211756A>G | CA393728988 | RLBP1 | c.671T>C (p.Val224Ala) c.88T>C c.*249T>C (n.*249T>C) c.596T>C (p.Val199Ala) c.698T>C (p.Val233Ala) | |
| 15 | g.89211756A>T | CA393728990 | RLBP1 | c.671T>A (p.Val224Glu) c.88T>A c.*249T>A (n.*249T>A) c.596T>A (p.Val199Glu) c.698T>A (p.Val233Glu) | |
| 15 | g.89211757C>A | CA393728991 | RLBP1 | c.670G>T (p.Val224Leu) c.87G>T c.*248G>T (n.*248G>T) c.595G>T (p.Val199Leu) c.697G>T (p.Val233Leu) | |
| 15 | g.89211757C>G | CA393728992 | RLBP1 | c.670G>C (p.Val224Leu) c.87G>C c.*248G>C (n.*248G>C) c.595G>C (p.Val199Leu) c.697G>C (p.Val233Leu) | ClinVar |
| 15 | g.89211757C>T | CA393728993 | RLBP1 | c.670G>A (p.Val224Met) c.87G>A c.*248G>A (n.*248G>A) c.595G>A (p.Val199Met) c.697G>A (p.Val233Met) | gnomAD v4 |
| 15 | g.89211758C>A | CA393728994 | RLBP1 | c.669G>T (p.Met223Ile) c.86G>T c.*247G>T (n.*247G>T) c.594G>T (p.Met198Ile) c.696G>T (p.Met232Ile) | |
| 15 | g.89211758C>G | CA393728995 | RLBP1 | c.669G>C (p.Met223Ile) c.86G>C c.*247G>C (n.*247G>C) c.594G>C (p.Met198Ile) c.696G>C (p.Met232Ile) | |
| 15 | g.89211758C>T | CA393728996 | RLBP1 | c.669G>A (p.Met223Ile) c.86G>A c.*247G>A (n.*247G>A) c.594G>A (p.Met198Ile) c.696G>A (p.Met232Ile) | |
| 15 | g.89211759A>C | CA393728999 | RLBP1 | c.668T>G (p.Met223Arg) c.85T>G c.*246T>G (n.*246T>G) c.593T>G (p.Met198Arg) c.695T>G (p.Met232Arg) | |
| 15 | g.89211759A>G | CA393728997 | RLBP1 | c.668T>C (p.Met223Thr) c.85T>C c.*246T>C (n.*246T>C) c.593T>C (p.Met198Thr) c.695T>C (p.Met232Thr) | gnomAD v4 |
| 15 | g.89211759A>T | CA393728998 | RLBP1 | c.668T>A (p.Met223Lys) c.85T>A c.*246T>A (n.*246T>A) c.593T>A (p.Met198Lys) c.695T>A (p.Met232Lys) | |
| 15 | g.89211760T>A | CA393729000 | RLBP1 | c.667A>T (p.Met223Leu) c.84A>T c.*245A>T (n.*245A>T) c.592A>T (p.Met198Leu) c.694A>T (p.Met232Leu) | |
| 15 | g.89211760T>C | CA393729001 | RLBP1 | c.667A>G (p.Met223Val) c.84A>G c.*245A>G (n.*245A>G) c.592A>G (p.Met198Val) c.694A>G (p.Met232Val) | gnomAD v4 |
| 15 | g.89211760T>G | CA393729002 | RLBP1 | c.667A>C (p.Met223Leu) c.84A>C c.*245A>C (n.*245A>C) c.592A>C (p.Met198Leu) c.694A>C (p.Met232Leu) | |
| 15 | g.89211761C>A | CA393729003 | RLBP1 | c.666G>T (p.Lys222Asn) c.83G>T c.*244G>T (n.*244G>T) c.591G>T (p.Lys197Asn) c.693G>T (p.Lys231Asn) | |
| 15 | g.89211761C>G | CA393729004 | RLBP1 | c.666G>C (p.Lys222Asn) c.83G>C c.*244G>C (n.*244G>C) c.591G>C (p.Lys197Asn) c.693G>C (p.Lys231Asn) | |
| 15 | g.89211761C>T | CA492075895 | RLBP1 | c.666G>A (p.Lys222=) c.83G>A c.*244G>A (n.*244G>A) c.591G>A (p.Lys197=) c.693G>A (p.Lys231=) | |
| 15 | g.89211762T>A | CA393729005 | RLBP1 | c.665A>T (p.Lys222Met) c.82A>T c.*243A>T (n.*243A>T) c.590A>T (p.Lys197Met) c.692A>T (p.Lys231Met) | |
| 15 | g.89211762T>C | CA393729007 | RLBP1 | c.665A>G (p.Lys222Arg) c.82A>G c.*243A>G (n.*243A>G) c.590A>G (p.Lys197Arg) c.692A>G (p.Lys231Arg) | |
| 15 | g.89211762T>G | CA393729006 | RLBP1 | c.665A>C (p.Lys222Thr) c.82A>C c.*243A>C (n.*243A>C) c.590A>C (p.Lys197Thr) c.692A>C (p.Lys231Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211762T= | CA2194510192 | RLBP1 | c.665A= (p.Lys222=) c.82A= c.*243A= (n.*243A=) c.590A= (p.Lys197=) c.692A= (p.Lys231=) | |
| 15 | g.89211763T>A | CA393729008 | RLBP1 | c.664A>T (p.Lys222Ter) c.81A>T c.*242A>T (n.*242A>T) c.589A>T (p.Lys197Ter) c.691A>T (p.Lys231Ter) | |
| 15 | g.89211763T>C | CA393729009 | RLBP1 | c.664A>G (p.Lys222Glu) c.81A>G c.*242A>G (n.*242A>G) c.589A>G (p.Lys197Glu) c.691A>G (p.Lys231Glu) | |
| 15 | g.89211763T>G | CA393729010 | RLBP1 | c.664A>C (p.Lys222Gln) c.81A>C c.*242A>C (n.*242A>C) c.589A>C (p.Lys197Gln) c.691A>C (p.Lys231Gln) | |
| 15 | g.89211764C>A | CA393729011 | RLBP1 | c.663G>T (p.Arg221Ser) c.80G>T c.*241G>T (n.*241G>T) c.588G>T (p.Arg196Ser) c.690G>T (p.Arg230Ser) | |
| 15 | g.89211764C>G | CA393729012 | RLBP1 | c.663G>C (p.Arg221Ser) c.80G>C c.*241G>C (n.*241G>C) c.588G>C (p.Arg196Ser) c.690G>C (p.Arg230Ser) | |
| 15 | g.89211764C>T | CA492075904 | RLBP1 | c.663G>A (p.Arg221=) c.80G>A c.*241G>A (n.*241G>A) c.588G>A (p.Arg196=) c.690G>A (p.Arg230=) | |
| 15 | g.89211765C>A | CA393729013 | RLBP1 | c.662G>T (p.Arg221Met) c.79G>T c.*240G>T (n.*240G>T) c.587G>T (p.Arg196Met) c.689G>T (p.Arg230Met) | |
| 15 | g.89211765C= | CA2194510194 | RLBP1 | c.662G= (p.Arg221=) c.79G= c.*240G= (n.*240G=) c.587G= (p.Arg196=) c.689G= (p.Arg230=) | |
| 15 | g.89211765C>G | CA393729014 | RLBP1 | c.662G>C (p.Arg221Thr) c.79G>C c.*240G>C (n.*240G>C) c.587G>C (p.Arg196Thr) c.689G>C (p.Arg230Thr) | |
| 15 | g.89211765C>T | CA274532601 | RLBP1 | c.662G>A (p.Arg221Lys) c.79G>A c.*240G>A (n.*240G>A) c.587G>A (p.Arg196Lys) c.689G>A (p.Arg230Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211766T>A | CA393729015 | RLBP1 | c.661A>T (p.Arg221Trp) c.78A>T c.*239A>T (n.*239A>T) c.586A>T (p.Arg196Trp) c.688A>T (p.Arg230Trp) | |
| 15 | g.89211766T>C | CA393729016 | RLBP1 | c.661A>G (p.Arg221Gly) c.78A>G c.*239A>G (n.*239A>G) c.586A>G (p.Arg196Gly) c.688A>G (p.Arg230Gly) | |
| 15 | g.89211766T>G | CA492075914 | RLBP1 | c.661A>C (p.Arg221=) c.78A>C c.*239A>C (n.*239A>C) c.586A>C (p.Arg196=) c.688A>C (p.Arg230=) | |
| 15 | g.89211767G>A | CA492075917 | RLBP1 | c.660C>T (p.Leu220=) c.77C>T c.*238C>T (n.*238C>T) c.585C>T (p.Leu195=) c.687C>T (p.Leu229=) | |
| 15 | g.89211767G>C | CA492075919 | RLBP1 | c.660C>G (p.Leu220=) c.77C>G c.*238C>G (n.*238C>G) c.585C>G (p.Leu195=) c.687C>G (p.Leu229=) | |
| 15 | g.89211767G>T | CA492075922 | RLBP1 | c.660C>A (p.Leu220=) c.77C>A c.*238C>A (n.*238C>A) c.585C>A (p.Leu195=) c.687C>A (p.Leu229=) | |
| 15 | g.89211768A>C | CA393729019 | RLBP1 | c.659T>G (p.Leu220Arg) c.76T>G c.*237T>G (n.*237T>G) c.584T>G (p.Leu195Arg) c.686T>G (p.Leu229Arg) | |
| 15 | g.89211768A>G | CA393729018 | RLBP1 | c.659T>C (p.Leu220Pro) c.76T>C c.*237T>C (n.*237T>C) c.584T>C (p.Leu195Pro) c.686T>C (p.Leu229Pro) | |
| 15 | g.89211768A>T | CA393729017 | RLBP1 | c.659T>A (p.Leu220His) c.76T>A c.*237T>A (n.*237T>A) c.584T>A (p.Leu195His) c.686T>A (p.Leu229His) | |
| 15 | g.89211769G>A | CA393729020 | RLBP1 | c.658C>T (p.Leu220Phe) c.75C>T c.*236C>T (n.*236C>T) c.583C>T (p.Leu195Phe) c.685C>T (p.Leu229Phe) | |
| 15 | g.89211769G>C | CA393729021 | RLBP1 | c.658C>G (p.Leu220Val) c.75C>G c.*236C>G (n.*236C>G) c.583C>G (p.Leu195Val) c.685C>G (p.Leu229Val) | |
| 15 | g.89211769G>T | CA393729022 | RLBP1 | c.658C>A (p.Leu220Ile) c.75C>A c.*236C>A (n.*236C>A) c.583C>A (p.Leu195Ile) c.685C>A (p.Leu229Ile) | |
| 15 | g.89211770A>C | CA393729023 | RLBP1 | c.657T>G (p.Asp219Glu) c.74T>G c.*235T>G (n.*235T>G) c.582T>G (p.Asp194Glu) c.684T>G (p.Asp228Glu) | |
| 15 | g.89211770A>G | CA492075936 | RLBP1 | c.657T>C (p.Asp219=) c.74T>C c.*235T>C (n.*235T>C) c.582T>C (p.Asp194=) c.684T>C (p.Asp228=) | |
| 15 | g.89211770A>T | CA393729024 | RLBP1 | c.657T>A (p.Asp219Glu) c.74T>A c.*235T>A (n.*235T>A) c.582T>A (p.Asp194Glu) c.684T>A (p.Asp228Glu) | gnomAD v4 |
| 15 | g.89211771T>A | CA393729027 | RLBP1 | c.656A>T (p.Asp219Val) c.73A>T c.*234A>T (n.*234A>T) c.581A>T (p.Asp194Val) c.683A>T (p.Asp228Val) | |
| 15 | g.89211771T>C | CA393729026 | RLBP1 | c.656A>G (p.Asp219Gly) c.73A>G c.*234A>G (n.*234A>G) c.581A>G (p.Asp194Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 |
| 15 | g.89211771T>G | CA393729025 | RLBP1 | c.656A>C (p.Asp219Ala) c.73A>C c.*234A>C (n.*234A>C) c.581A>C (p.Asp194Ala) c.683A>C (p.Asp228Ala) | |
| 15 | g.89211772C>A | CA393729028 | RLBP1 | c.655G>T (p.Asp219Tyr) c.72G>T c.*233G>T (n.*233G>T) c.580G>T (p.Asp194Tyr) c.682G>T (p.Asp228Tyr) | |
| 15 | g.89211772C= | CA2194510200 | RLBP1 | c.655G= (p.Asp219=) c.72G= c.*233G= (n.*233G=) c.580G= (p.Asp194=) c.682G= (p.Asp228=) | |
| 15 | g.89211772C>G | CA393729029 | RLBP1 | c.655G>C (p.Asp219His) c.72G>C c.*233G>C (n.*233G>C) c.580G>C (p.Asp194His) c.682G>C (p.Asp228His) | gnomAD v4 |
| 15 | g.89211772C>T | CA393729030 | RLBP1 | c.655G>A (p.Asp219Asn) c.72G>A c.*233G>A (n.*233G>A) c.580G>A (p.Asp194Asn) c.682G>A (p.Asp228Asn) | dbSNP |
| 15 | g.89211773T>A | CA492075961 | RLBP1 | c.654A>T (p.Ser218=) c.71A>T c.*232A>T (n.*232A>T) c.579A>T (p.Ser193=) c.681A>T (p.Ser227=) | |
| 15 | g.89211773T>C | CA492075958 | RLBP1 | c.654A>G (p.Ser218=) c.71A>G c.*232A>G (n.*232A>G) c.579A>G (p.Ser193=) c.681A>G (p.Ser227=) | |
| 15 | g.89211773T>G | CA492075955 | RLBP1 | c.654A>C (p.Ser218=) c.71A>C c.*232A>C (n.*232A>C) c.579A>C (p.Ser193=) c.681A>C (p.Ser227=) | |
| 15 | g.89211774G>A | CA393729031 | RLBP1 | c.653C>T (p.Ser218Leu) c.70C>T c.*231C>T (n.*231C>T) c.578C>T (p.Ser193Leu) c.680C>T (p.Ser227Leu) | |
| 15 | g.89211774G>C | CA393729032 | RLBP1 | c.653C>G (p.Ser218Ter) c.70C>G c.*231C>G (n.*231C>G) c.578C>G (p.Ser193Ter) c.680C>G (p.Ser227Ter) | |
| 15 | g.89211774G>T | CA393729033 | RLBP1 | c.653C>A (p.Ser218Ter) c.70C>A c.*231C>A (n.*231C>A) c.578C>A (p.Ser193Ter) c.680C>A (p.Ser227Ter) | |
| 15 | g.89211775A>C | CA393729034 | RLBP1 | c.652T>G (p.Ser218Ala) c.69T>G c.*230T>G (n.*230T>G) c.577T>G (p.Ser193Ala) c.679T>G (p.Ser227Ala) | |
| 15 | g.89211775A>G | CA393729036 | RLBP1 | c.652T>C (p.Ser218Pro) c.69T>C c.*230T>C (n.*230T>C) c.577T>C (p.Ser193Pro) c.679T>C (p.Ser227Pro) | |
| 15 | g.89211775A>T | CA393729035 | RLBP1 | c.652T>A (p.Ser218Thr) c.69T>A c.*230T>A (n.*230T>A) c.577T>A (p.Ser193Thr) c.679T>A (p.Ser227Thr) | |
| 15 | g.89211776A>C | CA492075974 | RLBP1 | c.651T>G (p.Thr217=) c.68T>G c.*229T>G (n.*229T>G) c.576T>G (p.Thr192=) c.678T>G (p.Thr226=) | |
| 15 | g.89211776A>G | CA492075979 | RLBP1 | c.651T>C (p.Thr217=) c.68T>C c.*229T>C (n.*229T>C) c.576T>C (p.Thr192=) c.678T>C (p.Thr226=) | gnomAD v4 |
| 15 | g.89211776A>T | CA492075976 | RLBP1 | c.651T>A (p.Thr217=) c.68T>A c.*229T>A (n.*229T>A) c.576T>A (p.Thr192=) c.678T>A (p.Thr226=) | gnomAD v4 |
| 15 | g.89211777G>A | CA393729037 | RLBP1 | c.650C>T (p.Thr217Ile) c.67C>T c.*228C>T (n.*228C>T) c.575C>T (p.Thr192Ile) c.677C>T (p.Thr226Ile) | |
| 15 | g.89211777G>C | CA393729038 | RLBP1 | c.650C>G (p.Thr217Ser) c.67C>G c.*228C>G (n.*228C>G) c.575C>G (p.Thr192Ser) c.677C>G (p.Thr226Ser) | |
| 15 | g.89211777G>T | CA393729039 | RLBP1 | c.650C>A (p.Thr217Asn) c.67C>A c.*228C>A (n.*228C>A) c.575C>A (p.Thr192Asn) c.677C>A (p.Thr226Asn) | |
| 15 | g.89211778T>A | CA393729040 | RLBP1 | c.649A>T (p.Thr217Ser) c.66A>T c.*227A>T (n.*227A>T) c.574A>T (p.Thr192Ser) c.676A>T (p.Thr226Ser) | |
| 15 | g.89211778T>C | CA393729041 | RLBP1 | c.649A>G (p.Thr217Ala) c.66A>G c.*227A>G (n.*227A>G) c.574A>G (p.Thr192Ala) c.676A>G (p.Thr226Ala) | |
| 15 | g.89211778T>G | CA393729042 | RLBP1 | c.649A>C (p.Thr217Pro) c.66A>C c.*227A>C (n.*227A>C) c.574A>C (p.Thr192Pro) c.676A>C (p.Thr226Pro) | |
| 15 | g.89211779C>A | CA492075991 | RLBP1 | c.648G>T (p.Arg216=) c.65G>T c.*226G>T (n.*226G>T) c.573G>T (p.Arg191=) c.675G>T (p.Arg225=) | |
| 15 | g.89211779C= | CA2194510203 | RLBP1 | c.648G= (p.Arg216=) c.65G= c.*226G= (n.*226G=) c.573G= (p.Arg191=) c.675G= (p.Arg225=) | |
| 15 | g.89211779C>G | CA492075993 | RLBP1 | c.648G>C (p.Arg216=) c.65G>C c.*226G>C (n.*226G>C) c.573G>C (p.Arg191=) c.675G>C (p.Arg225=) | |
| 15 | g.89211779C>T | CA492075995 | RLBP1 | c.648G>A (p.Arg216=) c.65G>A c.*226G>A (n.*226G>A) c.573G>A (p.Arg191=) c.675G>A (p.Arg225=) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211780C>A | CA393729043 | RLBP1 | c.647G>T (p.Arg216Leu) c.64G>T c.*225G>T (n.*225G>T) c.572G>T (p.Arg191Leu) c.674G>T (p.Arg225Leu) | |
| 15 | g.89211780C= | CA2194510210 | RLBP1 | c.647G= (p.Arg216=) c.64G= c.*225G= (n.*225G=) c.572G= (p.Arg191=) c.674G= (p.Arg225=) | |
| 15 | g.89211780C>G | CA393729044 | RLBP1 | c.647G>C (p.Arg216Pro) c.64G>C c.*225G>C (n.*225G>C) c.572G>C (p.Arg191Pro) c.674G>C (p.Arg225Pro) | dbSNP gnomAD v4 |
| 15 | g.89211780C>T | CA7722230 | RLBP1 | c.647G>A (p.Arg216Gln) c.64G>A c.*225G>A (n.*225G>A) c.572G>A (p.Arg191Gln) c.674G>A (p.Arg225Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211781G>A | CA7722231 | RLBP1 | c.646C>T (p.Arg216Trp) c.63C>T c.*224C>T (n.*224C>T) c.571C>T (p.Arg191Trp) c.673C>T (p.Arg225Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89211781G>C | CA393729045 | RLBP1 | c.646C>G (p.Arg216Gly) c.63C>G c.*224C>G (n.*224C>G) c.571C>G (p.Arg191Gly) c.673C>G (p.Arg225Gly) | |
| 15 | g.89211781G= | CA2194510214 | RLBP1 | c.646C= (p.Arg216=) c.63C= c.*224C= (n.*224C=) c.571C= (p.Arg191=) c.673C= (p.Arg225=) | |
| 15 | g.89211781G>T | CA492076004 | RLBP1 | c.646C>A (p.Arg216=) c.63C>A c.*224C>A (n.*224C>A) c.571C>A (p.Arg191=) c.673C>A (p.Arg225=) | |
| 15 | g.89211782G>A | CA492076008 | RLBP1 | c.645C>T (p.Leu215=) c.62C>T c.*223C>T (n.*223C>T) c.570C>T (p.Leu190=) c.672C>T (p.Leu224=) | dbSNP gnomAD v4 |
| 15 | g.89211782G>C | CA492076010 | RLBP1 | c.645C>G (p.Leu215=) c.62C>G c.*223C>G (n.*223C>G) c.570C>G (p.Leu190=) c.672C>G (p.Leu224=) | |
| 15 | g.89211782G= | CA2194510225 | RLBP1 | c.645C= (p.Leu215=) c.62C= c.*223C= (n.*223C=) c.570C= (p.Leu190=) c.672C= (p.Leu224=) | |
| 15 | g.89211782G>T | CA492076013 | RLBP1 | c.645C>A (p.Leu215=) c.62C>A c.*223C>A (n.*223C>A) c.570C>A (p.Leu190=) c.672C>A (p.Leu224=) | |
| 15 | g.89211783A>C | CA393729048 | RLBP1 | c.644T>G (p.Leu215Arg) c.61T>G c.*222T>G (n.*222T>G) c.569T>G (p.Leu190Arg) c.671T>G (p.Leu224Arg) | |
| 15 | g.89211783A>G | CA393729047 | RLBP1 | c.644T>C (p.Leu215Pro) c.61T>C c.*222T>C (n.*222T>C) c.569T>C (p.Leu190Pro) c.671T>C (p.Leu224Pro) | |
| 15 | g.89211783A>T | CA393729046 | RLBP1 | c.644T>A (p.Leu215His) c.61T>A c.*222T>A (n.*222T>A) c.569T>A (p.Leu190His) c.671T>A (p.Leu224His) | |
| 15 | g.89211784G>A | CA393729049 | RLBP1 | c.643C>T (p.Leu215Phe) c.60C>T c.*221C>T (n.*221C>T) c.568C>T (p.Leu190Phe) c.670C>T (p.Leu224Phe) | gnomAD v4 |
| 15 | g.89211784G>C | CA393729050 | RLBP1 | c.643C>G (p.Leu215Val) c.60C>G c.*221C>G (n.*221C>G) c.568C>G (p.Leu190Val) c.670C>G (p.Leu224Val) | |
| 15 | g.89211784G= | CA2194510229 | RLBP1 | c.643C= (p.Leu215=) c.60C= c.*221C= (n.*221C=) c.568C= (p.Leu190=) c.670C= (p.Leu224=) | |
| 15 | g.89211784G>T | CA274532624 | RLBP1 | c.643C>A (p.Leu215Ile) c.60C>A c.*221C>A (n.*221C>A) c.568C>A (p.Leu190Ile) c.670C>A (p.Leu224Ile) | dbSNP |
| 15 | g.89211785A>C | CA393729051 | RLBP1 | c.642T>G (p.Ser214Arg) c.59T>G c.*220T>G (n.*220T>G) c.567T>G (p.Ser189Arg) c.669T>G (p.Ser223Arg) | |
| 15 | g.89211785A>G | CA492076030 | RLBP1 | c.642T>C (p.Ser214=) c.59T>C c.*220T>C (n.*220T>C) c.567T>C (p.Ser189=) c.669T>C (p.Ser223=) | |
| 15 | g.89211785A>T | CA393729052 | RLBP1 | c.642T>A (p.Ser214Arg) c.59T>A c.*220T>A (n.*220T>A) c.567T>A (p.Ser189Arg) c.669T>A (p.Ser223Arg) | |
| 15 | g.89211786C>A | CA393729053 | RLBP1 | c.641G>T (p.Ser214Ile) c.58G>T c.*219G>T (n.*219G>T) c.566G>T (p.Ser189Ile) c.668G>T (p.Ser223Ile) | |
| 15 | g.89211786C>G | CA393729054 | RLBP1 | c.641G>C (p.Ser214Thr) c.58G>C c.*219G>C (n.*219G>C) c.566G>C (p.Ser189Thr) c.668G>C (p.Ser223Thr) | |
| 15 | g.89211786C>T | CA393729055 | RLBP1 | c.641G>A (p.Ser214Asn) c.58G>A c.*219G>A (n.*219G>A) c.566G>A (p.Ser189Asn) c.668G>A (p.Ser223Asn) | |
| 15 | g.89211787T>A | CA393729056 | RLBP1 | c.640A>T (p.Ser214Cys) c.57A>T c.*218A>T (n.*218A>T) c.565A>T (p.Ser189Cys) c.667A>T (p.Ser223Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211787T>C | CA393729057 | RLBP1 | c.640A>G (p.Ser214Gly) c.57A>G c.*218A>G (n.*218A>G) c.565A>G (p.Ser189Gly) c.667A>G (p.Ser223Gly) | |
| 15 | g.89211787T>G | CA393729058 | RLBP1 | c.640A>C (p.Ser214Arg) c.57A>C c.*218A>C (n.*218A>C) c.565A>C (p.Ser189Arg) c.667A>C (p.Ser223Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211787T= | CA2194510236 | RLBP1 | c.640A= (p.Ser214=) c.57A= c.*218A= (n.*218A=) c.565A= (p.Ser189=) c.667A= (p.Ser223=) | |
| 15 | g.89211787_89211788insTT | CA2630242577 | RLBP1 | c.640_641insAA (p.Ser214LysfsTer?) c.57_58insAA c.*218_*219insAA (n.*218_*219insAA) c.565_566insAA (p.Ser189LysfsTer?) c.667_668insAA (p.Ser223LysfsTer?) | gnomAD v4 |
| 15 | g.89211788A= | CA2194510240 | RLBP1 | c.639T= (p.Ala213=) c.56T= c.*217T= (n.*217T=) c.564T= (p.Ala188=) c.666T= (p.Ala222=) | |
| 15 | g.89211788A>C | CA492076042 | RLBP1 | c.639T>G (p.Ala213=) c.56T>G c.*217T>G (n.*217T>G) c.564T>G (p.Ala188=) c.666T>G (p.Ala222=) | |
| 15 | g.89211788A>G | CA274532634 | RLBP1 | c.639T>C (p.Ala213=) c.56T>C c.*217T>C (n.*217T>C) c.564T>C (p.Ala188=) c.666T>C (p.Ala222=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89211788A>T | CA492076045 | RLBP1 | c.639T>A (p.Ala213=) c.56T>A c.*217T>A (n.*217T>A) c.564T>A (p.Ala188=) c.666T>A (p.Ala222=) | |
| 15 | g.89211788_89211796delinsAGCAGCCTG | CA2194510241 | RLBP1 | c.631_639delinsCAGGCTGCT (p.Gln211=) c.48_56delinsCAGGCTGCT c.*209_*217delinsCAGGCTGCT (n.*209_*217delinsCAGGCTGCT) c.556_564delinsCAGGCTGCT (p.Gln186=) c.658_666delinsCAGGCTGCT (p.Gln220=) | |
| 15 | g.89211789G>A | CA393729059 | RLBP1 | c.638C>T (p.Ala213Val) c.55C>T c.*216C>T (n.*216C>T) c.563C>T (p.Ala188Val) c.665C>T (p.Ala222Val) | gnomAD v4 |
| 15 | g.89211789G>C | CA7722232 | RLBP1 | c.638C>G (p.Ala213Gly) c.55C>G c.*216C>G (n.*216C>G) c.563C>G (p.Ala188Gly) c.665C>G (p.Ala222Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211789G= | CA2194510247 | RLBP1 | c.638C= (p.Ala213=) c.55C= c.*216C= (n.*216C=) c.563C= (p.Ala188=) c.665C= (p.Ala222=) | |
| 15 | g.89211789G>T | CA393729060 | RLBP1 | c.638C>A (p.Ala213Asp) c.55C>A c.*216C>A (n.*216C>A) c.563C>A (p.Ala188Asp) c.665C>A (p.Ala222Asp) | |
| 15 | g.89211789_89211792del | CA2630242578 | RLBP1 | c.635_638del (p.Ala212ValfsTer?) c.52_55del c.*213_*216del (n.*213_*216del) c.560_563del (p.Ala187ValfsTer?) c.662_665del (p.Ala221ValfsTer?) | gnomAD v4 |
| 15 | g.89211789_89211796del | CA716899296 | RLBP1 | c.631_638del (p.Gln211Ter) c.48_55del c.*209_*216del (n.*209_*216del) c.556_563del (p.Gln186Ter) c.658_665del (p.Gln220Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211790C>A | CA393729063 | RLBP1 | c.637G>T (p.Ala213Ser) c.54G>T c.*215G>T (n.*215G>T) c.562G>T (p.Ala188Ser) c.664G>T (p.Ala222Ser) | |
| 15 | g.89211790C>G | CA393729061 | RLBP1 | c.637G>C (p.Ala213Pro) c.54G>C c.*215G>C (n.*215G>C) c.562G>C (p.Ala188Pro) c.664G>C (p.Ala222Pro) | |
| 15 | g.89211790C>T | CA393729062 | RLBP1 | c.637G>A (p.Ala213Thr) c.54G>A c.*215G>A (n.*215G>A) c.562G>A (p.Ala188Thr) c.664G>A (p.Ala222Thr) | |
| 15 | g.89211791A>C | CA492076059 | RLBP1 | c.636T>G (p.Ala212=) c.53T>G c.*214T>G (n.*214T>G) c.561T>G (p.Ala187=) c.663T>G (p.Ala221=) | |
| 15 | g.89211791A>G | CA492076063 | RLBP1 | c.636T>C (p.Ala212=) c.53T>C c.*214T>C (n.*214T>C) c.561T>C (p.Ala187=) c.663T>C (p.Ala221=) | |
| 15 | g.89211791A>T | CA492076061 | RLBP1 | c.636T>A (p.Ala212=) c.53T>A c.*214T>A (n.*214T>A) c.561T>A (p.Ala187=) c.663T>A (p.Ala221=) | |
| 15 | g.89211792G>A | CA393729064 | RLBP1 | c.635C>T (p.Ala212Val) c.52C>T c.*213C>T (n.*213C>T) c.560C>T (p.Ala187Val) c.662C>T (p.Ala221Val) | COSMIC |
| 15 | g.89211792G>C | CA393729065 | RLBP1 | c.635C>G (p.Ala212Gly) c.52C>G c.*213C>G (n.*213C>G) c.560C>G (p.Ala187Gly) c.662C>G (p.Ala221Gly) | |
| 15 | g.89211792G>T | CA393729066 | RLBP1 | c.635C>A (p.Ala212Asp) c.52C>A c.*213C>A (n.*213C>A) c.560C>A (p.Ala187Asp) c.662C>A (p.Ala221Asp) | |
| 15 | g.89211793C>A | CA393729067 | RLBP1 | c.634G>T (p.Ala212Ser) c.51G>T c.*212G>T (n.*212G>T) c.559G>T (p.Ala187Ser) c.661G>T (p.Ala221Ser) | |
| 15 | g.89211793C= | CA2194510248 | RLBP1 | c.634G= (p.Ala212=) c.51G= c.*212G= (n.*212G=) c.559G= (p.Ala187=) c.661G= (p.Ala221=) | |
| 15 | g.89211793C>G | CA393729068 | RLBP1 | c.634G>C (p.Ala212Pro) c.51G>C c.*212G>C (n.*212G>C) c.559G>C (p.Ala187Pro) c.661G>C (p.Ala221Pro) | |
| 15 | g.89211793C>T | CA393729069 | RLBP1 | c.634G>A (p.Ala212Thr) c.51G>A c.*212G>A (n.*212G>A) c.559G>A (p.Ala187Thr) c.661G>A (p.Ala221Thr) | dbSNP gnomAD v4 |
| 15 | g.89211794C>A | CA393729070 | RLBP1 | c.633G>T (p.Gln211His) c.50G>T c.*211G>T (n.*211G>T) c.558G>T (p.Gln186His) c.660G>T (p.Gln220His) | |
| 15 | g.89211794C>G | CA393729071 | RLBP1 | c.633G>C (p.Gln211His) c.50G>C c.*211G>C (n.*211G>C) c.558G>C (p.Gln186His) c.660G>C (p.Gln220His) | |
| 15 | g.89211794C>T | CA492076077 | RLBP1 | c.633G>A (p.Gln211=) c.50G>A c.*211G>A (n.*211G>A) c.558G>A (p.Gln186=) c.660G>A (p.Gln220=) | |
| 15 | g.89211795T>A | CA393729072 | RLBP1 | c.632A>T (p.Gln211Leu) c.49A>T c.*210A>T (n.*210A>T) c.557A>T (p.Gln186Leu) c.659A>T (p.Gln220Leu) | |
| 15 | g.89211795T>C | CA393729073 | RLBP1 | c.632A>G (p.Gln211Arg) c.49A>G c.*210A>G (n.*210A>G) c.557A>G (p.Gln186Arg) c.659A>G (p.Gln220Arg) | |
| 15 | g.89211795T>G | CA393729074 | RLBP1 | c.632A>C (p.Gln211Pro) c.49A>C c.*210A>C (n.*210A>C) c.557A>C (p.Gln186Pro) c.659A>C (p.Gln220Pro) | |
| 15 | g.89211796G>A | CA393729077 | RLBP1 | c.631C>T (p.Gln211Ter) c.48C>T c.*209C>T (n.*209C>T) c.556C>T (p.Gln186Ter) c.658C>T (p.Gln220Ter) | |
| 15 | g.89211796G>C | CA393729076 | RLBP1 | c.631C>G (p.Gln211Glu) c.48C>G c.*209C>G (n.*209C>G) c.556C>G (p.Gln186Glu) c.658C>G (p.Gln220Glu) | |
| 15 | g.89211796G>T | CA393729075 | RLBP1 | c.631C>A (p.Gln211Lys) c.48C>A c.*209C>A (n.*209C>A) c.556C>A (p.Gln186Lys) c.658C>A (p.Gln220Lys) | |
| 15 | g.89211797C>A | CA393729078 | RLBP1 | c.630G>T (p.Gln210His) c.47G>T c.*208G>T (n.*208G>T) c.555G>T (p.Gln185His) c.657G>T (p.Gln219His) | |
| 15 | g.89211797C>G | CA393729079 | RLBP1 | c.630G>C (p.Gln210His) c.47G>C c.*208G>C (n.*208G>C) c.555G>C (p.Gln185His) c.657G>C (p.Gln219His) | |
| 15 | g.89211797C>T | CA492076095 | RLBP1 | c.630G>A (p.Gln210=) c.47G>A c.*208G>A (n.*208G>A) c.555G>A (p.Gln185=) c.657G>A (p.Gln219=) | |
| 15 | g.89211798T>A | CA393729080 | RLBP1 | c.629A>T (p.Gln210Leu) c.46A>T c.*207A>T (n.*207A>T) c.554A>T (p.Gln185Leu) c.656A>T (p.Gln219Leu) | |
| 15 | g.89211798T>C | CA393729081 | RLBP1 | c.629A>G (p.Gln210Arg) c.46A>G c.*207A>G (n.*207A>G) c.554A>G (p.Gln185Arg) c.656A>G (p.Gln219Arg) | gnomAD v4 |
| 15 | g.89211798T>G | CA393729082 | RLBP1 | c.629A>C (p.Gln210Pro) c.46A>C c.*207A>C (n.*207A>C) c.554A>C (p.Gln185Pro) c.656A>C (p.Gln219Pro) | |
| 15 | g.89211798_89211804delinsTGCATGG | CA2194510251 | RLBP1 | c.623_629delinsCCATGCA (p.Thr208=) c.40_46delinsCCATGCA c.*201_*207delinsCCATGCA (n.*201_*207delinsCCATGCA) c.548_554delinsCCATGCA (p.Thr183=) c.650_656delinsCCATGCA (p.Thr217=) | |
| 15 | g.89211799G>A | CA393729085 | RLBP1 | c.628C>T (p.Gln210Ter) c.45C>T c.*206C>T (n.*206C>T) c.553C>T (p.Gln185Ter) c.655C>T (p.Gln219Ter) | |
| 15 | g.89211799G>C | CA393729084 | RLBP1 | c.628C>G (p.Gln210Glu) c.45C>G c.*206C>G (n.*206C>G) c.553C>G (p.Gln185Glu) c.655C>G (p.Gln219Glu) | |
| 15 | g.89211799G>T | CA393729083 | RLBP1 | c.628C>A (p.Gln210Lys) c.45C>A c.*206C>A (n.*206C>A) c.553C>A (p.Gln185Lys) c.655C>A (p.Gln219Lys) | |
| 15 | g.89211799_89211804del | CA716899321 | RLBP1 | c.623_628del (p.Thr208_Gln210delinsLys) c.40_45del c.*201_*206del (n.*201_*206del) c.548_553del (p.Thr183_Gln185delinsLys) c.650_655del (p.Thr217_Gln219delinsLys) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89211800C>A | CA393729086 | RLBP1 | c.627G>T (p.Met209Ile) c.44G>T c.*205G>T (n.*205G>T) c.552G>T (p.Met184Ile) c.654G>T (p.Met218Ile) | |
| 15 | g.89211800C>G | CA393729087 | RLBP1 | c.627G>C (p.Met209Ile) c.44G>C c.*205G>C (n.*205G>C) c.552G>C (p.Met184Ile) c.654G>C (p.Met218Ile) | |
| 15 | g.89211800C>T | CA393729088 | RLBP1 | c.627G>A (p.Met209Ile) c.44G>A c.*205G>A (n.*205G>A) c.552G>A (p.Met184Ile) c.654G>A (p.Met218Ile) | |
| 15 | g.89211801A= | CA2194510262 | RLBP1 | c.626T= (p.Met209=) c.43T= c.*204T= (n.*204T=) c.551T= (p.Met184=) c.653T= (p.Met218=) | |
| 15 | g.89211801A>C | CA393729089 | RLBP1 | c.626T>G (p.Met209Arg) c.43T>G c.*204T>G (n.*204T>G) c.551T>G (p.Met184Arg) c.653T>G (p.Met218Arg) | |
| 15 | g.89211801A>G | CA7722233 | RLBP1 | c.626T>C (p.Met209Thr) c.43T>C c.*204T>C (n.*204T>C) c.551T>C (p.Met184Thr) c.653T>C (p.Met218Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211801A>T | CA393729090 | RLBP1 | c.626T>A (p.Met209Lys) c.43T>A c.*204T>A (n.*204T>A) c.551T>A (p.Met184Lys) c.653T>A (p.Met218Lys) | gnomAD v4 |
| 15 | g.89211802T>A | CA393729091 | RLBP1 | c.625A>T (p.Met209Leu) c.42A>T c.*203A>T (n.*203A>T) c.550A>T (p.Met184Leu) c.652A>T (p.Met218Leu) | |
| 15 | g.89211802T>C | CA393729093 | RLBP1 | c.625A>G (p.Met209Val) c.42A>G c.*203A>G (n.*203A>G) c.550A>G (p.Met184Val) c.652A>G (p.Met218Val) | ClinVar dbSNP gnomAD v2 |
| 15 | g.89211802T>G | CA393729092 | RLBP1 | c.625A>C (p.Met209Leu) c.42A>C c.*203A>C (n.*203A>C) c.550A>C (p.Met184Leu) c.652A>C (p.Met218Leu) | |
| 15 | g.89211802T= | CA2194510274 | RLBP1 | c.625A= (p.Met209=) c.42A= c.*203A= (n.*203A=) c.550A= (p.Met184=) c.652A= (p.Met218=) | |
| 15 | g.89211803G>A | CA492076125 | RLBP1 | c.624C>T (p.Thr208=) c.41C>T c.*202C>T (n.*202C>T) c.549C>T (p.Thr183=) c.651C>T (p.Thr217=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89211803G>C | CA492076126 | RLBP1 | c.624C>G (p.Thr208=) c.41C>G c.*202C>G (n.*202C>G) c.549C>G (p.Thr183=) c.651C>G (p.Thr217=) | |
| 15 | g.89211803G= | CA2194510295 | RLBP1 | c.624C= (p.Thr208=) c.41C= c.*202C= (n.*202C=) c.549C= (p.Thr183=) c.651C= (p.Thr217=) | |
| 15 | g.89211803G>T | CA492076127 | RLBP1 | c.624C>A (p.Thr208=) c.41C>A c.*202C>A (n.*202C>A) c.549C>A (p.Thr183=) c.651C>A (p.Thr217=) | |
| 15 | g.89211804G>A | CA393729094 | RLBP1 | c.623C>T (p.Thr208Ile) c.40C>T c.*201C>T (n.*201C>T) c.548C>T (p.Thr183Ile) c.650C>T (p.Thr217Ile) | gnomAD v4 |
| 15 | g.89211804G>C | CA393729095 | RLBP1 | c.623C>G (p.Thr208Ser) c.40C>G c.*201C>G (n.*201C>G) c.548C>G (p.Thr183Ser) c.650C>G (p.Thr217Ser) | |
| 15 | g.89211804G>T | CA393729096 | RLBP1 | c.623C>A (p.Thr208Asn) c.40C>A c.*201C>A (n.*201C>A) c.548C>A (p.Thr183Asn) c.650C>A (p.Thr217Asn) | |
| 15 | g.89211805T>A | CA393729097 | RLBP1 | c.622A>T (p.Thr208Ser) c.39A>T c.*200A>T (n.*200A>T) c.547A>T (p.Thr183Ser) c.649A>T (p.Thr217Ser) | |
| 15 | g.89211805T>C | CA393729098 | RLBP1 | c.622A>G (p.Thr208Ala) c.39A>G c.*200A>G (n.*200A>G) c.547A>G (p.Thr183Ala) c.649A>G (p.Thr217Ala) | |
| 15 | g.89211805T>G | CA393729099 | RLBP1 | c.622A>C (p.Thr208Pro) c.39A>C c.*200A>C (n.*200A>C) c.547A>C (p.Thr183Pro) c.649A>C (p.Thr217Pro) | |
| 15 | g.89211806A>C | CA393729100 | RLBP1 | c.621T>G (p.Phe207Leu) c.38T>G c.*199T>G (n.*199T>G) c.546T>G (p.Phe182Leu) c.648T>G (p.Phe216Leu) | |
| 15 | g.89211806A>G | CA492076130 | RLBP1 | c.621T>C (p.Phe207=) c.38T>C c.*199T>C (n.*199T>C) c.546T>C (p.Phe182=) c.648T>C (p.Phe216=) | gnomAD v4 |
| 15 | g.89211806A>T | CA393729101 | RLBP1 | c.621T>A (p.Phe207Leu) c.38T>A c.*199T>A (n.*199T>A) c.546T>A (p.Phe182Leu) c.648T>A (p.Phe216Leu) |