Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.4699732A= | CA2347156586 | PRNP | c.512A= (p.Asn171=) c.*201A= (n.*201A=) | |
20 | g.4699732A>C | CA408152518 | PRNP | c.512A>C (p.Asn171Thr) c.*201A>C (n.*201A>C) | |
20 | g.4699732A>G | CA123092 | PRNP | c.512A>G (p.Asn171Ser) c.*201A>G (n.*201A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699732A>T | CA408152519 | PRNP | c.512A>T (p.Asn171Ile) c.*201A>T (n.*201A>T) | |
20 | g.4699733C>A | CA408152520 | PRNP | c.513C>A (p.Asn171Lys) c.*202C>A (n.*202C>A) | |
20 | g.4699733C= | CA2347156587 | PRNP | c.513C= (p.Asn171=) c.*202C= (n.*202C=) | |
20 | g.4699733C>G | CA9752088 | PRNP | c.513C>G (p.Asn171Lys) c.*202C>G (n.*202C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699733C>T | CA509567448 | PRNP | c.513C>T (p.Asn171=) c.*202C>T (n.*202C>T) | gnomAD v4 |
20 | g.4699734C>A | CA408152521 | PRNP | c.514C>A (p.Gln172Lys) c.*203C>A (n.*203C>A) | |
20 | g.4699734C>G | CA408152522 | PRNP | c.514C>G (p.Gln172Glu) c.*203C>G (n.*203C>G) | |
20 | g.4699734C>T | CA408152523 | PRNP | c.514C>T (p.Gln172Ter) c.*203C>T (n.*203C>T) | |
20 | g.4699735A= | CA2347156588 | PRNP | c.515A= (p.Gln172=) c.*204A= (n.*204A=) | |
20 | g.4699735A>C | CA408152524 | PRNP | c.515A>C (p.Gln172Pro) c.*204A>C (n.*204A>C) | |
20 | g.4699735A>G | CA408152525 | PRNP | c.515A>G (p.Gln172Arg) c.*204A>G (n.*204A>G) | dbSNP |
20 | g.4699735A>T | CA408152526 | PRNP | c.515A>T (p.Gln172Leu) c.*204A>T (n.*204A>T) | |
20 | g.4699736G>A | CA9752089 | PRNP | c.516G>A (p.Gln172=) c.*205G>A (n.*205G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.4699736G>C | CA408152528 | PRNP | c.516G>C (p.Gln172His) c.*205G>C (n.*205G>C) | |
20 | g.4699736G= | CA2347156589 | PRNP | c.516G= (p.Gln172=) c.*205G= (n.*205G=) | |
20 | g.4699736G>T | CA408152527 | PRNP | c.516G>T (p.Gln172His) c.*205G>T (n.*205G>T) | |
20 | g.4699737A>C | CA408152529 | PRNP | c.517A>C (p.Asn173His) c.*206A>C (n.*206A>C) | COSMIC |
20 | g.4699737A>G | CA408152530 | PRNP | c.517A>G (p.Asn173Asp) c.*206A>G (n.*206A>G) | |
20 | g.4699737A>T | CA408152531 | PRNP | c.517A>T (p.Asn173Tyr) c.*206A>T (n.*206A>T) | |
20 | g.4699738A= | CA2347156590 | PRNP | c.518A= (p.Asn173=) c.*207A= (n.*207A=) | |
20 | g.4699738A>C | CA408152532 | PRNP | c.518A>C (p.Asn173Thr) c.*207A>C (n.*207A>C) | gnomAD v4 |
20 | g.4699738A>G | CA408152533 | PRNP | c.518A>G (p.Asn173Ser) c.*207A>G (n.*207A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699738A>T | CA408152534 | PRNP | c.518A>T (p.Asn173Ile) c.*207A>T (n.*207A>T) | |
20 | g.4699739C>A | CA408152535 | PRNP | c.519C>A (p.Asn173Lys) c.*208C>A (n.*208C>A) | |
20 | g.4699739C= | CA2347156591 | PRNP | c.519C= (p.Asn173=) c.*208C= (n.*208C=) | |
20 | g.4699739C>G | CA408152536 | PRNP | c.519C>G (p.Asn173Lys) c.*208C>G (n.*208C>G) | |
20 | g.4699739C>T | CA9752090 | PRNP | c.519C>T (p.Asn173=) c.*208C>T (n.*208C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.4699740A>C | CA408152537 | PRNP | c.520A>C (p.Asn174His) c.*209A>C (n.*209A>C) | gnomAD v4 |
20 | g.4699740A>G | CA408152538 | PRNP | c.520A>G (p.Asn174Asp) c.*209A>G (n.*209A>G) | |
20 | g.4699740A>T | CA408152539 | PRNP | c.520A>T (p.Asn174Tyr) c.*209A>T (n.*209A>T) | |
20 | g.4699741A>C | CA408152541 | PRNP | c.521A>C (p.Asn174Thr) c.*210A>C (n.*210A>C) | |
20 | g.4699741A>G | CA408152542 | PRNP | c.521A>G (p.Asn174Ser) c.*210A>G (n.*210A>G) | gnomAD v4 |
20 | g.4699741A>T | CA408152540 | PRNP | c.521A>T (p.Asn174Ile) c.*210A>T (n.*210A>T) | |
20 | g.4699742C>A | CA408152543 | PRNP | c.522C>A (p.Asn174Lys) c.*211C>A (n.*211C>A) | |
20 | g.4699742C>G | CA408152544 | PRNP | c.522C>G (p.Asn174Lys) c.*211C>G (n.*211C>G) | |
20 | g.4699742C>T | CA509567462 | PRNP | c.522C>T (p.Asn174=) c.*211C>T (n.*211C>T) | gnomAD v4 |
20 | g.4699743T>A | CA408152545 | PRNP | c.523T>A (p.Phe175Ile) c.*212T>A (n.*212T>A) | |
20 | g.4699743T>C | CA408152547 | PRNP | c.523T>C (p.Phe175Leu) c.*212T>C (n.*212T>C) | |
20 | g.4699743T>G | CA408152546 | PRNP | c.523T>G (p.Phe175Val) c.*212T>G (n.*212T>G) | |
20 | g.4699744T>A | CA408152548 | PRNP | c.524T>A (p.Phe175Tyr) c.*213T>A (n.*213T>A) | |
20 | g.4699744T>C | CA408152549 | PRNP | c.524T>C (p.Phe175Ser) c.*213T>C (n.*213T>C) | |
20 | g.4699744T>G | CA408152550 | PRNP | c.524T>G (p.Phe175Cys) c.*213T>G (n.*213T>G) | |
20 | g.4699745T>A | CA408152551 | PRNP | c.525T>A (p.Phe175Leu) c.*214T>A (n.*214T>A) | gnomAD v4 |
20 | g.4699745T>C | CA509567469 | PRNP | c.525T>C (p.Phe175=) c.*214T>C (n.*214T>C) | |
20 | g.4699745T>G | CA408152552 | PRNP | c.525T>G (p.Phe175Leu) c.*214T>G (n.*214T>G) | |
20 | g.4699746G>A | CA408152553 | PRNP | c.526G>A (p.Val176Met) c.*215G>A (n.*215G>A) | |
20 | g.4699746G>C | CA408152554 | PRNP | c.526G>C (p.Val176Leu) c.*215G>C (n.*215G>C) |