UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.98157604C= | CA1805115764 | POP1 | c.2421-13C= (n.2421-13C=) n.456-13C= | |
| 8 | g.98157604C>T | CA4820837 | POP1 | c.2421-13C>T (n.2421-13C>T) n.456-13C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157606A= | CA1805115766 | POP1 | c.2421-11A= (n.2421-11A=) n.456-11A= | |
| 8 | g.98157606A>G | CA182302865 | POP1 | c.2421-11A>G (n.2421-11A>G) n.456-11A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157607C= | CA1805115768 | POP1 | c.2421-10C= (n.2421-10C=) n.456-10C= | |
| 8 | g.98157607C>T | CA583846198 | POP1 | c.2421-10C>T (n.2421-10C>T) n.456-10C>T | dbSNP gnomAD v2 |
| 8 | g.98157610C= | CA1805115770 | POP1 | c.2421-7C= (n.2421-7C=) n.456-7C= | |
| 8 | g.98157610C>T | CA4820838 | POP1 | c.2421-7C>T (n.2421-7C>T) n.456-7C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157611A= | CA1805115773 | POP1 | c.2421-6A= (n.2421-6A=) n.456-6A= | |
| 8 | g.98157611A>C | CA2688039206 | POP1 | c.2421-6A>C (n.2421-6A>C) n.456-6A>C | gnomAD v4 |
| 8 | g.98157611A>G | CA182302866 | POP1 | c.2421-6A>G (n.2421-6A>G) n.456-6A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157612T>C | CA857452776 | POP1 | c.2421-5T>C (n.2421-5T>C) n.456-5T>C | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157612T>G | CA2688039207 | POP1 | c.2421-5T>G (n.2421-5T>G) n.456-5T>G | gnomAD v4 |
| 8 | g.98157612T= | CA1805115775 | POP1 | c.2421-5T= (n.2421-5T=) n.456-5T= | |
| 8 | g.98157613G>A | CA1116995935 | POP1 | c.2421-4G>A (n.2421-4G>A) n.456-4G>A | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157613G= | CA1805115776 | POP1 | c.2421-4G= (n.2421-4G=) n.456-4G= | |
| 8 | g.98157614T>C | CA1805115778 | POP1 | c.2421-3T>C (n.2421-3T>C) n.456-3T>C | dbSNP gnomAD v4 |
| 8 | g.98157614T= | CA1805115777 | POP1 | c.2421-3T= (n.2421-3T=) n.456-3T= | |
| 8 | g.98157615A= | CA1805115780 | POP1 | c.2421-2A= (n.2421-2A=) n.456-2A= | |
| 8 | g.98157615A>C | CA371775364 | POP1 | c.2421-2A>C (n.2421-2A>C) n.456-2A>C | |
| 8 | g.98157615A>G | CA371775365 | POP1 | c.2421-2A>G (n.2421-2A>G) n.456-2A>G | |
| 8 | g.98157615A>T | CA4820839 | POP1 | c.2421-2A>T (n.2421-2A>T) n.456-2A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157616G>A | CA371775366 | POP1 | c.2421-1G>A (n.2421-1G>A) n.456-1G>A | |
| 8 | g.98157616G>C | CA371775367 | POP1 | c.2421-1G>C (n.2421-1G>C) n.456-1G>C | |
| 8 | g.98157616G>T | CA371775368 | POP1 | c.2421-1G>T (n.2421-1G>T) n.456-1G>T | |
| 8 | g.98157617G>A | CA462456663 | POP1 | c.2421G>A (p.Arg807=) n.456G>A | |
| 8 | g.98157617G>C | CA371775369 | POP1 | c.2421G>C (p.Arg807Ser) n.456G>C | |
| 8 | g.98157617G>T | CA371775370 | POP1 | c.2421G>T (p.Arg807Ser) n.456G>T | |
| 8 | g.98157618A>C | CA371775371 | POP1 | c.2422A>C (p.Ser808Arg) n.457A>C | |
| 8 | g.98157618A>G | CA371775372 | POP1 | c.2422A>G (p.Ser808Gly) n.457A>G | |
| 8 | g.98157618A>T | CA371775373 | POP1 | c.2422A>T (p.Ser808Cys) n.457A>T | |
| 8 | g.98157619G>A | CA4820840 | POP1 | c.2423G>A (p.Ser808Asn) n.458G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157619G>C | CA371775375 | POP1 | c.2423G>C (p.Ser808Thr) n.458G>C | |
| 8 | g.98157619G= | CA1805115783 | POP1 | c.2423G= (p.Ser808=) n.458G= | |
| 8 | g.98157619G>T | CA371775374 | POP1 | c.2423G>T (p.Ser808Ile) n.458G>T | dbSNP gnomAD v2 |
| 8 | g.98157620T>A | CA371775377 | POP1 | c.2424T>A (p.Ser808Arg) n.459T>A | |
| 8 | g.98157620T>C | CA462456668 | POP1 | c.2424T>C (p.Ser808=) n.459T>C | dbSNP |
| 8 | g.98157620T>G | CA371775376 | POP1 | c.2424T>G (p.Ser808Arg) n.459T>G | |
| 8 | g.98157620T= | CA1805115786 | POP1 | c.2424T= (p.Ser808=) n.459T= | |
| 8 | g.98157621A= | CA1805115790 | POP1 | c.2425A= (p.Arg809=) n.460A= | |
| 8 | g.98157621A>C | CA462456669 | POP1 | c.2425A>C (p.Arg809=) n.460A>C | |
| 8 | g.98157621A>G | CA371775379 | POP1 | c.2425A>G (p.Arg809Gly) n.460A>G | dbSNP |
| 8 | g.98157621A>T | CA371775378 | POP1 | c.2425A>T (p.Arg809Ter) n.460A>T | |
| 8 | g.98157622G>A | CA371775380 | POP1 | c.2426G>A (p.Arg809Lys) n.461G>A | |
| 8 | g.98157622G>C | CA371775381 | POP1 | c.2426G>C (p.Arg809Thr) n.461G>C | |
| 8 | g.98157622G>T | CA371775382 | POP1 | c.2426G>T (p.Arg809Ile) n.461G>T | |
| 8 | g.98157623A= | CA1805115793 | POP1 | c.2427A= (p.Arg809=) n.462A= | |
| 8 | g.98157623A>C | CA371775383 | POP1 | c.2427A>C (p.Arg809Ser) n.462A>C | |
| 8 | g.98157623A>G | CA4820841 | POP1 | c.2427A>G (p.Arg809=) n.462A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157623A>T | CA371775384 | POP1 | c.2427A>T (p.Arg809Ser) n.462A>T | |
| 8 | g.98157624A= | CA1805115798 | POP1 | c.2428A= (p.Lys810=) n.463A= | |
| 8 | g.98157624A>C | CA371775385 | POP1 | c.2428A>C (p.Lys810Gln) n.463A>C | |
| 8 | g.98157624A>G | CA4820842 | POP1 | c.2428A>G (p.Lys810Glu) n.463A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157624A>T | CA371775386 | POP1 | c.2428A>T (p.Lys810Ter) n.463A>T | |
| 8 | g.98157625A>C | CA371775389 | POP1 | c.2429A>C (p.Lys810Thr) n.464A>C | |
| 8 | g.98157625A>G | CA371775388 | POP1 | c.2429A>G (p.Lys810Arg) n.464A>G | |
| 8 | g.98157625A>T | CA371775387 | POP1 | c.2429A>T (p.Lys810Ile) n.464A>T | |
| 8 | g.98157626A>C | CA371775390 | POP1 | c.2430A>C (p.Lys810Asn) n.465A>C | |
| 8 | g.98157626A>G | CA462456671 | POP1 | c.2430A>G (p.Lys810=) n.465A>G | |
| 8 | g.98157626A>T | CA371775391 | POP1 | c.2430A>T (p.Lys810Asn) n.465A>T | |
| 8 | g.98157627T>A | CA371775392 | POP1 | c.2431T>A (p.Leu811Ile) n.466T>A | |
| 8 | g.98157627T>C | CA462456673 | POP1 | c.2431T>C (p.Leu811=) n.466T>C | |
| 8 | g.98157627T>G | CA371775393 | POP1 | c.2431T>G (p.Leu811Val) n.466T>G | gnomAD v4 |
| 8 | g.98157628T>A | CA371775394 | POP1 | c.2432T>A (p.Leu811Ter) n.467T>A | |
| 8 | g.98157628T>C | CA371775395 | POP1 | c.2432T>C (p.Leu811Ser) n.467T>C | |
| 8 | g.98157628T>G | CA371775396 | POP1 | c.2432T>G (p.Leu811Ter) n.467T>G | |
| 8 | g.98157629A>C | CA371775397 | POP1 | c.2433A>C (p.Leu811Phe) n.468A>C | |
| 8 | g.98157629A>G | CA462456674 | POP1 | c.2433A>G (p.Leu811=) n.468A>G | |
| 8 | g.98157629A>T | CA371775398 | POP1 | c.2433A>T (p.Leu811Phe) n.468A>T | |
| 8 | g.98157630C>A | CA371775399 | POP1 | c.2434C>A (p.Leu812Met) n.469C>A | gnomAD v4 |
| 8 | g.98157630C= | CA1805115802 | POP1 | c.2434C= (p.Leu812=) n.469C= | |
| 8 | g.98157630C>G | CA371775400 | POP1 | c.2434C>G (p.Leu812Val) n.469C>G | dbSNP gnomAD v4 |
| 8 | g.98157630C>T | CA4820843 | POP1 | c.2434C>T (p.Leu812=) n.469C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157631T>A | CA371775402 | POP1 | c.2435T>A (p.Leu812Gln) n.470T>A | |
| 8 | g.98157631T>C | CA371775403 | POP1 | c.2435T>C (p.Leu812Pro) n.470T>C | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.98157631T>G | CA371775401 | POP1 | c.2435T>G (p.Leu812Arg) n.470T>G | |
| 8 | g.98157631T= | CA1805115805 | POP1 | c.2435T= (p.Leu812=) n.470T= | |
| 8 | g.98157632G>A | CA4820844 | POP1 | c.2436G>A (p.Leu812=) n.471G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.98157632G>C | CA462456676 | POP1 | c.2436G>C (p.Leu812=) n.471G>C | |
| 8 | g.98157632G= | CA1805115811 | POP1 | c.2436G= (p.Leu812=) n.471G= | |
| 8 | g.98157632G>T | CA462456677 | POP1 | c.2436G>T (p.Leu812=) n.471G>T | |
| 8 | g.98157633A>C | CA371775404 | POP1 | c.2437A>C (p.Lys813Gln) n.472A>C | |
| 8 | g.98157633A>G | CA371775405 | POP1 | c.2437A>G (p.Lys813Glu) n.472A>G | |
| 8 | g.98157633A>T | CA371775406 | POP1 | c.2437A>T (p.Lys813Ter) n.472A>T | |
| 8 | g.98157634A>C | CA371775407 | POP1 | c.2438A>C (p.Lys813Thr) n.473A>C | |
| 8 | g.98157634A>G | CA371775408 | POP1 | c.2438A>G (p.Lys813Arg) n.473A>G | |
| 8 | g.98157634A>T | CA371775409 | POP1 | c.2438A>T (p.Lys813Met) n.473A>T | |
| 8 | g.98157635G>A | CA462456678 | POP1 | c.2439G>A (p.Lys813=) n.474G>A | COSMIC |
| 8 | g.98157635G>C | CA371775410 | POP1 | c.2439G>C (p.Lys813Asn) n.474G>C | |
| 8 | g.98157635G>T | CA371775411 | POP1 | c.2439G>T (p.Lys813Asn) n.474G>T | |
| 8 | g.98157636C>A | CA371775412 | POP1 | c.2440C>A (p.Gln814Lys) n.475C>A | |
| 8 | g.98157636C= | CA1805115815 | POP1 | c.2440C= (p.Gln814=) n.475C= | |
| 8 | g.98157636C>G | CA371775413 | POP1 | c.2440C>G (p.Gln814Glu) n.475C>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157636C>T | CA371775414 | POP1 | c.2440C>T (p.Gln814Ter) n.475C>T | |
| 8 | g.98157637A>C | CA371775416 | POP1 | c.2441A>C (p.Gln814Pro) n.476A>C | |
| 8 | g.98157637A>G | CA371775417 | POP1 | c.2441A>G (p.Gln814Arg) n.476A>G | |
| 8 | g.98157637A>T | CA371775415 | POP1 | c.2441A>T (p.Gln814Leu) n.476A>T | |
| 8 | g.98157638A= | CA1805115821 | POP1 | c.2442A= (p.Gln814=) n.477A= | |
| 8 | g.98157638A>C | CA371775418 | POP1 | c.2442A>C (p.Gln814His) n.477A>C | |
| 8 | g.98157638A>G | CA4820845 | POP1 | c.2442A>G (p.Gln814=) n.477A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157638A>T | CA371775419 | POP1 | c.2442A>T (p.Gln814His) n.477A>T | |
| 8 | g.98157639C>A | CA371775420 | POP1 | c.2443C>A (p.Leu815Met) n.478C>A | |
| 8 | g.98157639C>G | CA371775421 | POP1 | c.2443C>G (p.Leu815Val) n.478C>G | |
| 8 | g.98157639C>T | CA462456687 | POP1 | c.2443C>T (p.Leu815=) n.478C>T | |
| 8 | g.98157640T>A | CA371775424 | POP1 | c.2444T>A (p.Leu815Gln) n.479T>A | |
| 8 | g.98157640T>C | CA371775422 | POP1 | c.2444T>C (p.Leu815Pro) n.479T>C | |
| 8 | g.98157640T>G | CA371775423 | POP1 | c.2444T>G (p.Leu815Arg) n.479T>G | |
| 8 | g.98157641G>A | CA462456691 | POP1 | c.2445G>A (p.Leu815=) n.480G>A | |
| 8 | g.98157641G>C | CA462456693 | POP1 | c.2445G>C (p.Leu815=) n.480G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157641G= | CA1805115824 | POP1 | c.2445G= (p.Leu815=) n.480G= | |
| 8 | g.98157641G>T | CA462456692 | POP1 | c.2445G>T (p.Leu815=) n.480G>T | |
| 8 | g.98157642T>A | CA371775425 | POP1 | c.2446T>A (p.Ser816Thr) n.481T>A | |
| 8 | g.98157642T>C | CA371775426 | POP1 | c.2446T>C (p.Ser816Pro) n.481T>C | |
| 8 | g.98157642T>G | CA371775427 | POP1 | c.2446T>G (p.Ser816Ala) n.481T>G | |
| 8 | g.98157643C>A | CA371775428 | POP1 | c.2447C>A (p.Ser816Ter) n.482C>A | |
| 8 | g.98157643C>G | CA371775429 | POP1 | c.2447C>G (p.Ser816Ter) n.482C>G | |
| 8 | g.98157643C>T | CA371775430 | POP1 | c.2447C>T (p.Ser816Leu) n.482C>T | |
| 8 | g.98157644A= | CA1805115828 | POP1 | c.2448A= (p.Ser816=) n.483A= | |
| 8 | g.98157644A>C | CA462456698 | POP1 | c.2448A>C (p.Ser816=) n.483A>C | |
| 8 | g.98157644A>G | CA462456699 | POP1 | c.2448A>G (p.Ser816=) n.483A>G | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157644A>T | CA462456700 | POP1 | c.2448A>T (p.Ser816=) n.483A>T | |
| 8 | g.98157645G>A | CA371775432 | POP1 | c.2449G>A (p.Ala817Thr) n.484G>A | |
| 8 | g.98157645G>C | CA371775433 | POP1 | c.2449G>C (p.Ala817Pro) n.484G>C | |
| 8 | g.98157645G>T | CA371775431 | POP1 | c.2449G>T (p.Ala817Ser) n.484G>T | |
| 8 | g.98157646C>A | CA371775434 | POP1 | c.2450C>A (p.Ala817Asp) n.485C>A | |
| 8 | g.98157646C>G | CA371775435 | POP1 | c.2450C>G (p.Ala817Gly) n.485C>G | |
| 8 | g.98157646C>T | CA371775436 | POP1 | c.2450C>T (p.Ala817Val) n.485C>T | |
| 8 | g.98157647C>A | CA462456705 | POP1 | c.2451C>A (p.Ala817=) n.486C>A | |
| 8 | g.98157647C= | CA1805115831 | POP1 | c.2451C= (p.Ala817=) n.486C= | |
| 8 | g.98157647C>G | CA462456706 | POP1 | c.2451C>G (p.Ala817=) n.486C>G | gnomAD v4 |
| 8 | g.98157647C>T | CA4820846 | POP1 | c.2451C>T (p.Ala817=) n.486C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157648T>A | CA371775437 | POP1 | c.2452T>A (p.Trp818Arg) n.487T>A | |
| 8 | g.98157648T>C | CA371775438 | POP1 | c.2452T>C (p.Trp818Arg) n.487T>C | |
| 8 | g.98157648T>G | CA4820847 | POP1 | c.2452T>G (p.Trp818Gly) n.487T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157648T= | CA1805115833 | POP1 | c.2452T= (p.Trp818=) n.487T= | |
| 8 | g.98157649G>A | CA371775439 | POP1 | c.2453G>A (p.Trp818Ter) n.488G>A | COSMIC |
| 8 | g.98157649G>C | CA371775440 | POP1 | c.2453G>C (p.Trp818Ser) n.488G>C | |
| 8 | g.98157649G>T | CA371775441 | POP1 | c.2453G>T (p.Trp818Leu) n.488G>T | |
| 8 | g.98157650G>A | CA371775442 | POP1 | c.2454G>A (p.Trp818Ter) n.489G>A | |
| 8 | g.98157650G>C | CA371775443 | POP1 | c.2454G>C (p.Trp818Cys) n.489G>C | gnomAD v4 |
| 8 | g.98157650G= | CA1805115841 | POP1 | c.2454G= (p.Trp818=) n.489G= | |
| 8 | g.98157650G>T | CA371775444 | POP1 | c.2454G>T (p.Trp818Cys) n.489G>T | dbSNP |
| 8 | g.98157651T>A | CA4820848 | POP1 | c.2455T>A (p.Cys819Ser) n.490T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157651T>C | CA371775446 | POP1 | c.2455T>C (p.Cys819Arg) n.490T>C | |
| 8 | g.98157651T>G | CA371775445 | POP1 | c.2455T>G (p.Cys819Gly) n.490T>G | |
| 8 | g.98157651T= | CA1805115847 | POP1 | c.2455T= (p.Cys819=) n.490T= | |
| 8 | g.98157652G>A | CA4820849 | POP1 | c.2456G>A (p.Cys819Tyr) n.491G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157652G>C | CA371775447 | POP1 | c.2456G>C (p.Cys819Ser) n.491G>C | |
| 8 | g.98157652G= | CA1805115851 | POP1 | c.2456G= (p.Cys819=) n.491G= | |
| 8 | g.98157652G>T | CA371775448 | POP1 | c.2456G>T (p.Cys819Phe) n.491G>T | gnomAD v4 |
| 8 | g.98157653T>A | CA371775449 | POP1 | c.2457T>A (p.Cys819Ter) n.492T>A | |
| 8 | g.98157653T>C | CA462456712 | POP1 | c.2457T>C (p.Cys819=) n.492T>C | |
| 8 | g.98157653T>G | CA371775450 | POP1 | c.2457T>G (p.Cys819Trp) n.492T>G | |
| 8 | g.98157654G>A | CA371775451 | POP1 | c.2458G>A (p.Gly820Arg) n.493G>A | |
| 8 | g.98157654G>C | CA371775452 | POP1 | c.2458G>C (p.Gly820Arg) n.493G>C | |
| 8 | g.98157654G>T | CA371775453 | POP1 | c.2458G>T (p.Gly820Trp) n.493G>T | |
| 8 | g.98157656del | CA2688039208 | POP1 | c.2460del (p.Ser822ValfsTer19) n.495del | gnomAD v4 |
| 8 | g.98157655G>A | CA371775454 | POP1 | c.2459G>A (p.Gly820Glu) n.494G>A | |
| 8 | g.98157655G>C | CA371775455 | POP1 | c.2459G>C (p.Gly820Ala) n.494G>C | |
| 8 | g.98157655G>T | CA371775456 | POP1 | c.2459G>T (p.Gly820Val) n.494G>T | dbSNP |
| 8 | g.98157656G>A | CA462456717 | POP1 | c.2460G>A (p.Gly820=) n.495G>A | gnomAD v4 |
| 8 | g.98157656G>C | CA462456718 | POP1 | c.2460G>C (p.Gly820=) n.495G>C | |
| 8 | g.98157656G>T | CA462456719 | POP1 | c.2460G>T (p.Gly820=) n.495G>T | |
| 8 | g.98157657C>A | CA371775457 | POP1 | c.2461C>A (p.Pro821Thr) n.496C>A | |
| 8 | g.98157657C>G | CA371775458 | POP1 | c.2461C>G (p.Pro821Ala) n.496C>G | gnomAD v4 |
| 8 | g.98157657C>T | CA371775459 | POP1 | c.2461C>T (p.Pro821Ser) n.496C>T | COSMIC |
| 8 | g.98157658C>A | CA371775460 | POP1 | c.2462C>A (p.Pro821His) n.497C>A | |
| 8 | g.98157658C= | CA1805115854 | POP1 | c.2462C= (p.Pro821=) n.497C= | |
| 8 | g.98157658C>G | CA371775461 | POP1 | c.2462C>G (p.Pro821Arg) n.497C>G | |
| 8 | g.98157658C>T | CA4820850 | POP1 | c.2462C>T (p.Pro821Leu) n.497C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.98157659C>A | CA462456722 | POP1 | c.2463C>A (p.Pro821=) n.498C>A | |
| 8 | g.98157659C>G | CA462456723 | POP1 | c.2463C>G (p.Pro821=) n.498C>G | gnomAD v4 |
| 8 | g.98157659C>T | CA462456724 | POP1 | c.2463C>T (p.Pro821=) n.498C>T | |
| 8 | g.98157660A>C | CA371775462 | POP1 | c.2464A>C (p.Ser822Arg) n.499A>C | |
| 8 | g.98157660A>G | CA371775463 | POP1 | c.2464A>G (p.Ser822Gly) n.499A>G | |
| 8 | g.98157660A>T | CA371775464 | POP1 | c.2464A>T (p.Ser822Cys) n.499A>T | |
| 8 | g.98157661G>A | CA371775465 | POP1 | c.2465G>A (p.Ser822Asn) n.500G>A | |
| 8 | g.98157661G>C | CA371775466 | POP1 | c.2465G>C (p.Ser822Thr) n.500G>C | |
| 8 | g.98157661G>T | CA371775467 | POP1 | c.2465G>T (p.Ser822Ile) n.500G>T | |
| 8 | g.98157662T>A | CA371775468 | POP1 | c.2466T>A (p.Ser822Arg) n.501T>A | |
| 8 | g.98157662T>C | CA462456729 | POP1 | c.2466T>C (p.Ser822=) n.501T>C | |
| 8 | g.98157662T>G | CA371775469 | POP1 | c.2466T>G (p.Ser822Arg) n.501T>G | |
| 8 | g.98157663T>A | CA371775470 | POP1 | c.2467T>A (p.Ser823Thr) n.502T>A | |
| 8 | g.98157663T>C | CA371775471 | POP1 | c.2467T>C (p.Ser823Pro) n.502T>C | |
| 8 | g.98157663T>G | CA371775472 | POP1 | c.2467T>G (p.Ser823Ala) n.502T>G | |
| 8 | g.98157664C>A | CA371775473 | POP1 | c.2468C>A (p.Ser823Tyr) n.503C>A | |
| 8 | g.98157664C>G | CA371775474 | POP1 | c.2468C>G (p.Ser823Cys) n.503C>G | |
| 8 | g.98157664C>T | CA371775475 | POP1 | c.2468C>T (p.Ser823Phe) n.503C>T | |
| 8 | g.98157665T>A | CA4820851 | POP1 | c.2469T>A (p.Ser823=) n.504T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157665T>C | CA462456739 | POP1 | c.2469T>C (p.Ser823=) n.504T>C | |
| 8 | g.98157665T>G | CA462456740 | POP1 | c.2469T>G (p.Ser823=) n.504T>G | |
| 8 | g.98157665T= | CA1805115856 | POP1 | c.2469T= (p.Ser823=) n.504T= | |
| 8 | g.98157666G>A | CA4820853 | POP1 | c.2470G>A (p.Glu824Lys) n.505G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157666G>C | CA4820852 | POP1 | c.2470G>C (p.Glu824Gln) n.505G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157666G= | CA1805115861 | POP1 | c.2470G= (p.Glu824=) n.505G= | |
| 8 | g.98157666G>T | CA371775476 | POP1 | c.2470G>T (p.Glu824Ter) n.505G>T | |
| 8 | g.98157667A= | CA1805115866 | POP1 | c.2471A= (p.Glu824=) n.506A= | |
| 8 | g.98157667A>C | CA371775477 | POP1 | c.2471A>C (p.Glu824Ala) n.506A>C | |
| 8 | g.98157667A>G | CA371775478 | POP1 | c.2471A>G (p.Glu824Gly) n.506A>G | |
| 8 | g.98157667A>T | CA371775479 | POP1 | c.2471A>T (p.Glu824Val) n.506A>T | dbSNP |
| 8 | g.98157668G>A | CA462456744 | POP1 | c.2472G>A (p.Glu824=) | |
| 8 | g.98157668G>C | CA371775480 | POP1 | c.2472G>C (p.Glu824Asp) | |
| 8 | g.98157668G>T | CA371775481 | POP1 | c.2472G>T (p.Glu824Asp) | |
| 8 | g.98157669G>A | CA4820854 | POP1 | c.2473G>A (p.Asp825Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157669G>C | CA371775482 | POP1 | c.2473G>C (p.Asp825His) | |
| 8 | g.98157669G= | CA1805115869 | POP1 | c.2473G= (p.Asp825=) | |
| 8 | g.98157669G>T | CA371775483 | POP1 | c.2473G>T (p.Asp825Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157670A>C | CA371775484 | POP1 | c.2474A>C (p.Asp825Ala) | ClinVar |
| 8 | g.98157670A>G | CA371775485 | POP1 | c.2474A>G (p.Asp825Gly) | |
| 8 | g.98157670A>T | CA371775486 | POP1 | c.2474A>T (p.Asp825Val) | |
| 8 | g.98157671T>A | CA371775487 | POP1 | c.2475T>A (p.Asp825Glu) | |
| 8 | g.98157671T>C | CA182302935 | POP1 | c.2475T>C (p.Asp825=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157671T>G | CA371775488 | POP1 | c.2475T>G (p.Asp825Glu) | |
| 8 | g.98157671T= | CA1805115872 | POP1 | c.2475T= (p.Asp825=) | |
| 8 | g.98157672A>C | CA371775489 | POP1 | c.2476A>C (p.Ser826Arg) | |
| 8 | g.98157672A>G | CA371775491 | POP1 | c.2476A>G (p.Ser826Gly) | |
| 8 | g.98157672A>T | CA371775490 | POP1 | c.2476A>T (p.Ser826Cys) | |
| 8 | g.98157673G>A | CA371775492 | POP1 | c.2477G>A (p.Ser826Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.98157673G>C | CA371775494 | POP1 | c.2477G>C (p.Ser826Thr) | |
| 8 | g.98157673G>T | CA371775493 | POP1 | c.2477G>T (p.Ser826Ile) | |
| 8 | g.98157674T>A | CA371775495 | POP1 | c.2478T>A (p.Ser826Arg) | |
| 8 | g.98157674T>C | CA462456753 | POP1 | c.2478T>C (p.Ser826=) | gnomAD v4 |
| 8 | g.98157674T>G | CA371775496 | POP1 | c.2478T>G (p.Ser826Arg) | |
| 8 | g.98157675C>A | CA462456755 | POP1 | c.2479C>A (p.Arg827=) | |
| 8 | g.98157675C= | CA1805115875 | POP1 | c.2479C= (p.Arg827=) | |
| 8 | g.98157675C>G | CA371775497 | POP1 | c.2479C>G (p.Arg827Gly) | |
| 8 | g.98157675C>T | CA4820855 | POP1 | c.2479C>T (p.Arg827Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157676G>A | CA4820856 | POP1 | c.2480G>A (p.Arg827Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157676G>C | CA371775499 | POP1 | c.2480G>C (p.Arg827Pro) | |
| 8 | g.98157676G= | CA1805115877 | POP1 | c.2480G= (p.Arg827=) | |
| 8 | g.98157676G>T | CA371775498 | POP1 | c.2480G>T (p.Arg827Leu) | |
| 8 | g.98157677G>A | CA462456759 | POP1 | c.2481G>A (p.Arg827=) | |
| 8 | g.98157677G>C | CA462456760 | POP1 | c.2481G>C (p.Arg827=) | |
| 8 | g.98157677G>T | CA462456762 | POP1 | c.2481G>T (p.Arg827=) | |
| 8 | g.98157678G>A | CA371775500 | POP1 | c.2482G>A (p.Gly828Arg) | gnomAD v4 |
| 8 | g.98157678G>C | CA371775501 | POP1 | c.2482G>C (p.Gly828Arg) | |
| 8 | g.98157678G>T | CA371775502 | POP1 | c.2482G>T (p.Gly828Ter) | |
| 8 | g.98157679G>A | CA371775503 | POP1 | c.2483G>A (p.Gly828Glu) | |
| 8 | g.98157679G>C | CA371775504 | POP1 | c.2483G>C (p.Gly828Ala) | |
| 8 | g.98157679G>T | CA371775505 | POP1 | c.2483G>T (p.Gly828Val) | |
| 8 | g.98157680A>C | CA462456764 | POP1 | c.2484A>C (p.Gly828=) | |
| 8 | g.98157680A>G | CA462456765 | POP1 | c.2484A>G (p.Gly828=) | |
| 8 | g.98157680A>T | CA462456767 | POP1 | c.2484A>T (p.Gly828=) | gnomAD v4 |
| 8 | g.98157681G>A | CA371775506 | POP1 | c.2485G>A (p.Gly829Ser) | |
| 8 | g.98157681G>C | CA371775507 | POP1 | c.2485G>C (p.Gly829Arg) | |
| 8 | g.98157681G>T | CA371775508 | POP1 | c.2485G>T (p.Gly829Cys) | |
| 8 | g.98157682G>A | CA371775509 | POP1 | c.2486G>A (p.Gly829Asp) | COSMIC |
| 8 | g.98157682G>C | CA371775510 | POP1 | c.2486G>C (p.Gly829Ala) | |
| 8 | g.98157682G>T | CA371775511 | POP1 | c.2486G>T (p.Gly829Val) | |
| 8 | g.98157683C>A | CA462456774 | POP1 | c.2487C>A (p.Gly829=) | |
| 8 | g.98157683C>G | CA462456770 | POP1 | c.2487C>G (p.Gly829=) | |
| 8 | g.98157683C>T | CA462456772 | POP1 | c.2487C>T (p.Gly829=) | |
| 8 | g.98157684C>A | CA462456776 | POP1 | c.2488C>A (p.Arg830=) | |
| 8 | g.98157684C= | CA1805115882 | POP1 | c.2488C= (p.Arg830=) | |
| 8 | g.98157684C>G | CA371775512 | POP1 | c.2488C>G (p.Arg830Gly) | |
| 8 | g.98157684C>T | CA4820857 | POP1 | c.2488C>T (p.Arg830Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157685G>A | CA4820858 | POP1 | c.2489G>A (p.Arg830Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157685G>C | CA371775513 | POP1 | c.2489G>C (p.Arg830Pro) | |
| 8 | g.98157685G= | CA1805115886 | POP1 | c.2489G= (p.Arg830=) | |
| 8 | g.98157685G>T | CA371775514 | POP1 | c.2489G>T (p.Arg830Leu) | |
| 8 | g.98157686G>A | CA462456778 | POP1 | c.2490G>A (p.Arg830=) | |
| 8 | g.98157686G>C | CA462456780 | POP1 | c.2490G>C (p.Arg830=) | |
| 8 | g.98157686G>T | CA462456781 | POP1 | c.2490G>T (p.Arg830=) | |
| 8 | g.98157687C>A | CA462456783 | POP1 | c.2491C>A (p.Arg831=) | |
| 8 | g.98157687C= | CA1805115888 | POP1 | c.2491C= (p.Arg831=) | |
| 8 | g.98157687C>G | CA371775515 | POP1 | c.2491C>G (p.Arg831Gly) | dbSNP |
| 8 | g.98157687C>T | CA371775516 | POP1 | c.2491C>T (p.Arg831Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.98157688G>A | CA371775517 | POP1 | c.2492G>A (p.Arg831Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.98157688G>C | CA371775518 | POP1 | c.2492G>C (p.Arg831Pro) | |
| 8 | g.98157688G= | CA1805115892 | POP1 | c.2492G= (p.Arg831=) | |
| 8 | g.98157688G>T | CA371775519 | POP1 | c.2492G>T (p.Arg831Leu) | |
| 8 | g.98157689A>C | CA462456786 | POP1 | c.2493A>C (p.Arg831=) | |
| 8 | g.98157689A>G | CA462456787 | POP1 | c.2493A>G (p.Arg831=) | |
| 8 | g.98157689A>T | CA462456788 | POP1 | c.2493A>T (p.Arg831=) | |
| 8 | g.98157690G>A | CA371775520 | POP1 | c.2494G>A (p.Ala832Thr) | dbSNP |
| 8 | g.98157690G>C | CA371775521 | POP1 | c.2494G>C (p.Ala832Pro) | |
| 8 | g.98157690G= | CA1805115895 | POP1 | c.2494G= (p.Ala832=) | |
| 8 | g.98157690G>T | CA371775522 | POP1 | c.2494G>T (p.Ala832Ser) | |
| 8 | g.98157691C>A | CA371775525 | POP1 | c.2495C>A (p.Ala832Asp) | |
| 8 | g.98157691C>G | CA371775524 | POP1 | c.2495C>G (p.Ala832Gly) | |
| 8 | g.98157691C>T | CA371775523 | POP1 | c.2495C>T (p.Ala832Val) | |
| 8 | g.98157692T>A | CA462456792 | POP1 | c.2496T>A (p.Ala832=) | |
| 8 | g.98157692T>C | CA462456793 | POP1 | c.2496T>C (p.Ala832=) | |
| 8 | g.98157692T>G | CA462456794 | POP1 | c.2496T>G (p.Ala832=) | |
| 8 | g.98157693C>A | CA371775526 | POP1 | c.2497C>A (p.Pro833Thr) | |
| 8 | g.98157693C= | CA1805115897 | POP1 | c.2497C= (p.Pro833=) | |
| 8 | g.98157693C>G | CA371775527 | POP1 | c.2497C>G (p.Pro833Ala) | |
| 8 | g.98157693C>T | CA182302970 | POP1 | c.2497C>T (p.Pro833Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157694C>A | CA371775528 | POP1 | c.2498C>A (p.Pro833His) | dbSNP gnomAD v4 |
| 8 | g.98157694C= | CA1805115899 | POP1 | c.2498C= (p.Pro833=) | |
| 8 | g.98157694C>G | CA371775529 | POP1 | c.2498C>G (p.Pro833Arg) | |
| 8 | g.98157694C>T | CA371775530 | POP1 | c.2498C>T (p.Pro833Leu) | gnomAD v4 |
| 8 | g.98157695C>A | CA4820860 | POP1 | c.2499C>A (p.Pro833=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157695C= | CA1805115902 | POP1 | c.2499C= (p.Pro833=) | |
| 8 | g.98157695C>G | CA462456799 | POP1 | c.2499C>G (p.Pro833=) | |
| 8 | g.98157695C>T | CA4820859 | POP1 | c.2499C>T (p.Pro833=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157696G>A | CA4820861 | POP1 | c.2500G>A (p.Gly834Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157696G>C | CA371775531 | POP1 | c.2500G>C (p.Gly834Arg) | |
| 8 | g.98157696G= | CA1805115905 | POP1 | c.2500G= (p.Gly834=) | |
| 8 | g.98157696G>T | CA182302976 | POP1 | c.2500G>T (p.Gly834Cys) | dbSNP gnomAD v4 |
| 8 | g.98157697G>A | CA182302984 | POP1 | c.2501G>A (p.Gly834Asp) | dbSNP |
| 8 | g.98157697G>C | CA371775532 | POP1 | c.2501G>C (p.Gly834Ala) | dbSNP |
| 8 | g.98157697G= | CA1805115917 | POP1 | c.2501G= (p.Gly834=) | |
| 8 | g.98157697G>T | CA371775533 | POP1 | c.2501G>T (p.Gly834Val) | dbSNP gnomAD v4 |
| 8 | g.98157698C>A | CA462456804 | POP1 | c.2502C>A (p.Gly834=) | |
| 8 | g.98157698C>G | CA462456805 | POP1 | c.2502C>G (p.Gly834=) | |
| 8 | g.98157698C>T | CA462456806 | POP1 | c.2502C>T (p.Gly834=) | gnomAD v4 |
| 8 | g.98157699A>C | CA462456807 | POP1 | c.2503A>C (p.Arg835=) | |
| 8 | g.98157699A>G | CA371775535 | POP1 | c.2503A>G (p.Arg835Gly) | |
| 8 | g.98157699A>T | CA371775534 | POP1 | c.2503A>T (p.Arg835Ter) | |
| 8 | g.98157700G>A | CA4820862 | POP1 | c.2504G>A (p.Arg835Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157700G>C | CA371775536 | POP1 | c.2504G>C (p.Arg835Thr) | |
| 8 | g.98157700G= | CA1805115920 | POP1 | c.2504G= (p.Arg835=) | |
| 8 | g.98157700G>T | CA371775537 | POP1 | c.2504G>T (p.Arg835Ile) | gnomAD v4 |
| 8 | g.98157701A= | CA1805115922 | POP1 | c.2505A= (p.Arg835=) | |
| 8 | g.98157701A>C | CA371775538 | POP1 | c.2505A>C (p.Arg835Ser) | |
| 8 | g.98157701A>G | CA4820863 | POP1 | c.2505A>G (p.Arg835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157701A>T | CA371775539 | POP1 | c.2505A>T (p.Arg835Ser) | |
| 8 | g.98157702G>A | CA4820864 | POP1 | c.2506G>A (p.Gly836Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.98157702G>C | CA371775540 | POP1 | c.2506G>C (p.Gly836Arg) | |
| 8 | g.98157702G= | CA1805115925 | POP1 | c.2506G= (p.Gly836=) | |
| 8 | g.98157702G>T | CA371775541 | POP1 | c.2506G>T (p.Gly836Cys) | |
| 8 | g.98157703G>A | CA371775542 | POP1 | c.2507G>A (p.Gly836Asp) | |
| 8 | g.98157703G>C | CA371775543 | POP1 | c.2507G>C (p.Gly836Ala) | |
| 8 | g.98157703G>T | CA371775544 | POP1 | c.2507G>T (p.Gly836Val) | |
| 8 | g.98157704C>A | CA462456818 | POP1 | c.2508C>A (p.Gly836=) | |
| 8 | g.98157704C>G | CA462456816 | POP1 | c.2508C>G (p.Gly836=) | |
| 8 | g.98157704C>T | CA462456813 | POP1 | c.2508C>T (p.Gly836=) |