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 |
|---|---|---|---|---|---|
| 14 | g.50920935C= | CA2136421535 | PYGL | c.772+21G= (n.772+21G=) c.670+21G= (n.670+21G=) n.573+21G= | |
| 14 | g.50920935C>T | CA7183686 | PYGL | c.772+21G>A (n.772+21G>A) c.670+21G>A (n.670+21G>A) n.573+21G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920936A>G | CA2624827899 | PYGL | c.772+20T>C (n.772+20T>C) c.670+20T>C (n.670+20T>C) n.573+20T>C | gnomAD v4 |
| 14 | g.50920939G>C | CA2624827902 | PYGL | c.772+17C>G (n.772+17C>G) c.670+17C>G (n.670+17C>G) n.573+17C>G | gnomAD v4 |
| 14 | g.50920939G>T | CA2624827901 | PYGL | c.772+17C>A (n.772+17C>A) c.670+17C>A (n.670+17C>A) n.573+17C>A | gnomAD v4 |
| 14 | g.50920940C>A | CA7183687 | PYGL | c.772+16G>T (n.772+16G>T) c.670+16G>T (n.670+16G>T) n.573+16G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920940C= | CA2136421536 | PYGL | c.772+16G= (n.772+16G=) c.670+16G= (n.670+16G=) n.573+16G= | |
| 14 | g.50920940C>G | CA2581170673 | PYGL | c.772+16G>C (n.772+16G>C) c.670+16G>C (n.670+16G>C) n.573+16G>C | gnomAD v4 |
| 14 | g.50920940C>T | CA2581170674 | PYGL | c.772+16G>A (n.772+16G>A) c.670+16G>A (n.670+16G>A) n.573+16G>A | gnomAD v4 |
| 14 | g.50920942T>C | CA7183688 | PYGL | c.772+14A>G (n.772+14A>G) c.670+14A>G (n.670+14A>G) n.573+14A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920942T= | CA2136421537 | PYGL | c.772+14A= (n.772+14A=) c.670+14A= (n.670+14A=) n.573+14A= | |
| 14 | g.50920943G>A | CA7183689 | PYGL | c.772+13C>T (n.772+13C>T) c.670+13C>T (n.670+13C>T) n.573+13C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920943G>C | CA2801554142 | PYGL | c.772+13C>G (n.772+13C>G) c.670+13C>G (n.670+13C>G) n.573+13C>G | |
| 14 | g.50920943G= | CA2136421538 | PYGL | c.772+13C= (n.772+13C=) c.670+13C= (n.670+13C=) n.573+13C= | |
| 14 | g.50920944T>C | CA655974010 | PYGL | c.772+12A>G (n.772+12A>G) c.670+12A>G (n.670+12A>G) n.573+12A>G | gnomAD v4 COSMIC |
| 14 | g.50920945del | CA2624827922 | PYGL | c.772+11del (n.772+11del) c.670+11del (n.670+11del) n.573+11del | gnomAD v4 |
| 14 | g.50920945G>T | CA2624827923 | PYGL | c.772+11C>A (n.772+11C>A) c.670+11C>A (n.670+11C>A) n.573+11C>A | gnomAD v4 |
| 14 | g.50920946C>T | CA2624827925 | PYGL | c.772+10G>A (n.772+10G>A) c.670+10G>A (n.670+10G>A) n.573+10G>A | gnomAD v4 |
| 14 | g.50920948G>T | CA2575525495 | PYGL | c.772+8C>A (n.772+8C>A) c.670+8C>A (n.670+8C>A) n.573+8C>A | gnomAD v4 |
| 14 | g.50920950_50920952dup | CA2575525496 | PYGL | c.772+5_772+7dup (n.772+5_772+7dup) c.670+5_670+7dup (n.670+5_670+7dup) n.573+5_573+7dup | |
| 14 | g.50920950A= | CA2136421539 | PYGL | c.772+6T= (n.772+6T=) c.670+6T= (n.670+6T=) n.573+6T= | |
| 14 | g.50920950A>G | CA7183690 | PYGL | c.772+6T>C (n.772+6T>C) c.670+6T>C (n.670+6T>C) n.573+6T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50920951C>A | CA916083368 | PYGL | c.772+5G>T (n.772+5G>T) c.670+5G>T (n.670+5G>T) n.573+5G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.50920951C= | CA2136421540 | PYGL | c.772+5G= (n.772+5G=) c.670+5G= (n.670+5G=) n.573+5G= | |
| 14 | g.50920951C>T | CA2624827942 | PYGL | c.772+5G>A (n.772+5G>A) c.670+5G>A (n.670+5G>A) n.573+5G>A | gnomAD v4 |
| 14 | g.50920952_50920954delinsTCA | CA2136421541 | PYGL | c.772+2_772+4delinsTGA (n.772+2_772+4delinsTGA) c.670+2_670+4delinsTGA (n.670+2_670+4delinsTGA) n.573+2_573+4delinsTGA | |
| 14 | g.50920953C= | CA2136421542 | PYGL | c.772+3G= (n.772+3G=) c.670+3G= (n.670+3G=) n.573+3G= | |
| 14 | g.50920953C>T | CA2136421543 | PYGL | c.772+3G>A (n.772+3G>A) c.670+3G>A (n.670+3G>A) n.573+3G>A | dbSNP gnomAD v4 |
| 14 | g.50920955_50920956del | CA7183691 | PYGL | c.772+2_772+3del c.670+2_670+3del n.573+2_573+3del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920954A>C | CA389691481 | PYGL | c.772+2T>G (n.772+2T>G) c.670+2T>G (n.670+2T>G) n.573+2T>G | |
| 14 | g.50920954A>G | CA389691482 | PYGL | c.772+2T>C (n.772+2T>C) c.670+2T>C (n.670+2T>C) n.573+2T>C | |
| 14 | g.50920954A>T | CA389691483 | PYGL | c.772+2T>A (n.772+2T>A) c.670+2T>A (n.670+2T>A) n.573+2T>A | |
| 14 | g.50920955C>A | CA389691486 | PYGL | c.772+1G>T (n.772+1G>T) c.670+1G>T (n.670+1G>T) n.573+1G>T | |
| 14 | g.50920955C= | CA2136421544 | PYGL | c.772+1G= (n.772+1G=) c.670+1G= (n.670+1G=) n.573+1G= | |
| 14 | g.50920955C>G | CA389691488 | PYGL | c.772+1G>C (n.772+1G>C) c.670+1G>C (n.670+1G>C) n.573+1G>C | |
| 14 | g.50920955C>T | CA7183692 | PYGL | c.772+1G>A (n.772+1G>A) c.670+1G>A (n.670+1G>A) n.573+1G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920956A>C | CA389691490 | PYGL | c.772T>G (p.Phe258Val) c.670T>G (p.Phe224Val) n.573T>G | |
| 14 | g.50920956A>G | CA389691493 | PYGL | c.772T>C (p.Phe258Leu) c.670T>C (p.Phe224Leu) n.573T>C | |
| 14 | g.50920956A>T | CA389691495 | PYGL | c.772T>A (p.Phe258Ile) c.670T>A (p.Phe224Ile) n.573T>A | |
| 14 | g.50920957G>A | CA486383799 | PYGL | c.771C>T (p.Asp257=) c.669C>T (p.Asp223=) n.572C>T | |
| 14 | g.50920957G>C | CA389691498 | PYGL | c.771C>G (p.Asp257Glu) c.669C>G (p.Asp223Glu) n.572C>G | |
| 14 | g.50920957G>T | CA389691500 | PYGL | c.771C>A (p.Asp257Glu) c.669C>A (p.Asp223Glu) n.572C>A | |
| 14 | g.50920958T>A | CA389691503 | PYGL | c.770A>T (p.Asp257Val) c.668A>T (p.Asp223Val) n.571A>T | |
| 14 | g.50920958T>C | CA389691505 | PYGL | c.770A>G (p.Asp257Gly) c.668A>G (p.Asp223Gly) n.571A>G | |
| 14 | g.50920958T>G | CA389691507 | PYGL | c.770A>C (p.Asp257Ala) c.668A>C (p.Asp223Ala) n.571A>C | |
| 14 | g.50920959C>A | CA389691510 | PYGL | c.769G>T (p.Asp257Tyr) c.667G>T (p.Asp223Tyr) n.570G>T | |
| 14 | g.50920959C= | CA2136421545 | PYGL | c.769G= (p.Asp257=) c.667G= (p.Asp223=) n.570G= | |
| 14 | g.50920959C>G | CA389691512 | PYGL | c.769G>C (p.Asp257His) c.667G>C (p.Asp223His) n.570G>C | |
| 14 | g.50920959C>T | CA7183693 | PYGL | c.769G>A (p.Asp257Asn) c.667G>A (p.Asp223Asn) n.570G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50920960T>A | CA389691519 | PYGL | c.768A>T (p.Arg256Ser) c.666A>T (p.Arg222Ser) n.569A>T | |
| 14 | g.50920960T>C | CA486383801 | PYGL | c.768A>G (p.Arg256=) c.666A>G (p.Arg222=) n.569A>G | |
| 14 | g.50920960T>G | CA389691516 | PYGL | c.768A>C (p.Arg256Ser) c.666A>C (p.Arg222Ser) n.569A>C | |
| 14 | g.50920961C>A | CA389691522 | PYGL | c.767G>T (p.Arg256Ile) c.665G>T (p.Arg222Ile) n.568G>T | |
| 14 | g.50920961C>G | CA389691526 | PYGL | c.767G>C (p.Arg256Thr) c.665G>C (p.Arg222Thr) n.568G>C | |
| 14 | g.50920961C>T | CA389691524 | PYGL | c.767G>A (p.Arg256Lys) c.665G>A (p.Arg222Lys) n.568G>A | |
| 14 | g.50920962T>A | CA389691528 | PYGL | c.766A>T (p.Arg256Ter) c.664A>T (p.Arg222Ter) n.567A>T | |
| 14 | g.50920962T>C | CA7183694 | PYGL | c.766A>G (p.Arg256Gly) c.664A>G (p.Arg222Gly) n.567A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50920962T>G | CA486383802 | PYGL | c.766A>C (p.Arg256=) c.664A>C (p.Arg222=) n.567A>C | gnomAD v4 |
| 14 | g.50920962T= | CA2136421546 | PYGL | c.766A= (p.Arg256=) c.664A= (p.Arg222=) n.567A= | |
| 14 | g.50920963G>A | CA486383803 | PYGL | c.765C>T (p.Leu255=) c.663C>T (p.Leu221=) n.566C>T | |
| 14 | g.50920963G>C | CA486383805 | PYGL | c.765C>G (p.Leu255=) c.663C>G (p.Leu221=) n.566C>G | gnomAD v4 |
| 14 | g.50920963G>T | CA486383804 | PYGL | c.765C>A (p.Leu255=) c.663C>A (p.Leu221=) n.566C>A | |
| 14 | g.50920964A= | CA2136421547 | PYGL | c.764T= (p.Leu255=) c.662T= (p.Leu221=) n.565T= | |
| 14 | g.50920964A>C | CA389691532 | PYGL | c.764T>G (p.Leu255Arg) c.662T>G (p.Leu221Arg) n.565T>G | |
| 14 | g.50920964A>G | CA389691537 | PYGL | c.764T>C (p.Leu255Pro) c.662T>C (p.Leu221Pro) n.565T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50920964A>T | CA389691534 | PYGL | c.764T>A (p.Leu255His) c.662T>A (p.Leu221His) n.565T>A | |
| 14 | g.50920965G>A | CA7183695 | PYGL | c.763C>T (p.Leu255Phe) c.661C>T (p.Leu221Phe) n.564C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50920965G>C | CA389691542 | PYGL | c.763C>G (p.Leu255Val) c.661C>G (p.Leu221Val) n.564C>G | dbSNP |
| 14 | g.50920965G= | CA2136421548 | PYGL | c.763C= (p.Leu255=) c.661C= (p.Leu221=) n.564C= | |
| 14 | g.50920965G>T | CA389691545 | PYGL | c.763C>A (p.Leu255Ile) c.661C>A (p.Leu221Ile) n.564C>A | |
| 14 | g.50920966G>A | CA486383806 | PYGL | c.762C>T (p.Asn254=) c.660C>T (p.Asn220=) n.563C>T | |
| 14 | g.50920966G>C | CA389691548 | PYGL | c.762C>G (p.Asn254Lys) c.660C>G (p.Asn220Lys) n.563C>G | |
| 14 | g.50920966G>T | CA389691550 | PYGL | c.762C>A (p.Asn254Lys) c.660C>A (p.Asn220Lys) n.563C>A | |
| 14 | g.50920967T>A | CA389691553 | PYGL | c.761A>T (p.Asn254Ile) c.659A>T (p.Asn220Ile) n.562A>T | |
| 14 | g.50920967T>C | CA389691555 | PYGL | c.761A>G (p.Asn254Ser) c.659A>G (p.Asn220Ser) n.562A>G | |
| 14 | g.50920967T>G | CA389691557 | PYGL | c.761A>C (p.Asn254Thr) c.659A>C (p.Asn220Thr) n.562A>C | |
| 14 | g.50920968T>A | CA389691560 | PYGL | c.760A>T (p.Asn254Tyr) c.658A>T (p.Asn220Tyr) n.561A>T | |
| 14 | g.50920968T>C | CA389691562 | PYGL | c.760A>G (p.Asn254Asp) c.658A>G (p.Asn220Asp) n.561A>G | |
| 14 | g.50920968T>G | CA389691564 | PYGL | c.760A>C (p.Asn254His) c.658A>C (p.Asn220His) n.561A>C | |
| 14 | g.50920969A>C | CA389691567 | PYGL | c.759T>G (p.Phe253Leu) c.657T>G (p.Phe219Leu) n.560T>G | |
| 14 | g.50920969A>G | CA486383807 | PYGL | c.759T>C (p.Phe253=) c.657T>C (p.Phe219=) n.560T>C | |
| 14 | g.50920969A>T | CA389691566 | PYGL | c.759T>A (p.Phe253Leu) c.657T>A (p.Phe219Leu) n.560T>A | |
| 14 | g.50920970A>C | CA389691570 | PYGL | c.758T>G (p.Phe253Cys) c.656T>G (p.Phe219Cys) n.559T>G | |
| 14 | g.50920970A>G | CA389691573 | PYGL | c.758T>C (p.Phe253Ser) c.656T>C (p.Phe219Ser) n.559T>C | |
| 14 | g.50920970A>T | CA389691574 | PYGL | c.758T>A (p.Phe253Tyr) c.656T>A (p.Phe219Tyr) n.559T>A | |
| 14 | g.50920971A>C | CA389691577 | PYGL | c.757T>G (p.Phe253Val) c.655T>G (p.Phe219Val) n.558T>G | |
| 14 | g.50920971A>G | CA389691580 | PYGL | c.757T>C (p.Phe253Leu) c.655T>C (p.Phe219Leu) n.558T>C | |
| 14 | g.50920971A>T | CA389691582 | PYGL | c.757T>A (p.Phe253Ile) c.655T>A (p.Phe219Ile) n.558T>A | |
| 14 | g.50920972G>A | CA486383808 | PYGL | c.756C>T (p.Asp252=) c.654C>T (p.Asp218=) n.557C>T | gnomAD v4 |
| 14 | g.50920972G>C | CA389691585 | PYGL | c.756C>G (p.Asp252Glu) c.654C>G (p.Asp218Glu) n.557C>G | |
| 14 | g.50920972G= | CA2136421549 | PYGL | c.756C= (p.Asp252=) c.654C= (p.Asp218=) n.557C= | |
| 14 | g.50920972G>T | CA389691588 | PYGL | c.756C>A (p.Asp252Glu) c.654C>A (p.Asp218Glu) n.557C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920973T>A | CA389691591 | PYGL | c.755A>T (p.Asp252Val) c.653A>T (p.Asp218Val) n.556A>T | |
| 14 | g.50920973T>C | CA389691593 | PYGL | c.755A>G (p.Asp252Gly) c.653A>G (p.Asp218Gly) n.556A>G | |
| 14 | g.50920973T>G | CA389691596 | PYGL | c.755A>C (p.Asp252Ala) c.653A>C (p.Asp218Ala) n.556A>C | |
| 14 | g.50920974C>A | CA389691600 | PYGL | c.754G>T (p.Asp252Tyr) c.652G>T (p.Asp218Tyr) n.555G>T | |
| 14 | g.50920974C= | CA2136421550 | PYGL | c.754G= (p.Asp252=) c.652G= (p.Asp218=) n.555G= | |
| 14 | g.50920974C>G | CA389691603 | PYGL | c.754G>C (p.Asp252His) c.652G>C (p.Asp218His) n.555G>C | |
| 14 | g.50920974C>T | CA7183696 | PYGL | c.754G>A (p.Asp252Asn) c.652G>A (p.Asp218Asn) n.555G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920975A>C | CA389691606 | PYGL | c.753T>G (p.Asn251Lys) c.651T>G (p.Asn217Lys) n.554T>G | |
| 14 | g.50920975A>G | CA486383809 | PYGL | c.753T>C (p.Asn251=) c.651T>C (p.Asn217=) n.554T>C | |
| 14 | g.50920975A>T | CA389691608 | PYGL | c.753T>A (p.Asn251Lys) c.651T>A (p.Asn217Lys) n.554T>A | |
| 14 | g.50920976T>A | CA389691611 | PYGL | c.752A>T (p.Asn251Ile) c.650A>T (p.Asn217Ile) n.553A>T | |
| 14 | g.50920976T>C | CA389691614 | PYGL | c.752A>G (p.Asn251Ser) c.650A>G (p.Asn217Ser) n.553A>G | gnomAD v4 |
| 14 | g.50920976T>G | CA7183697 | PYGL | c.752A>C (p.Asn251Thr) c.650A>C (p.Asn217Thr) n.553A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920976T= | CA2136421551 | PYGL | c.752A= (p.Asn251=) c.650A= (p.Asn217=) n.553A= | |
| 14 | g.50920977T>A | CA389691618 | PYGL | c.751A>T (p.Asn251Tyr) c.649A>T (p.Asn217Tyr) n.552A>T | |
| 14 | g.50920977T>C | CA389691621 | PYGL | c.751A>G (p.Asn251Asp) c.649A>G (p.Asn217Asp) n.552A>G | |
| 14 | g.50920977T>G | CA389691624 | PYGL | c.751A>C (p.Asn251His) c.649A>C (p.Asn217His) n.552A>C | |
| 14 | g.50920978T>A | CA486383812 | PYGL | c.750A>T (p.Pro250=) c.648A>T (p.Pro216=) n.551A>T | |
| 14 | g.50920978T>C | CA486383810 | PYGL | c.750A>G (p.Pro250=) c.648A>G (p.Pro216=) n.551A>G | |
| 14 | g.50920978T>G | CA486383811 | PYGL | c.750A>C (p.Pro250=) c.648A>C (p.Pro216=) n.551A>C | |
| 14 | g.50920979G>A | CA389691626 | PYGL | c.749C>T (p.Pro250Leu) c.647C>T (p.Pro216Leu) n.550C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.50920979G>C | CA389691628 | PYGL | c.749C>G (p.Pro250Arg) c.647C>G (p.Pro216Arg) n.550C>G | |
| 14 | g.50920979G= | CA2136421552 | PYGL | c.749C= (p.Pro250=) c.647C= (p.Pro216=) n.550C= | |
| 14 | g.50920979G>T | CA389691631 | PYGL | c.749C>A (p.Pro250Gln) c.647C>A (p.Pro216Gln) n.550C>A | |
| 14 | g.50920980G>A | CA389691636 | PYGL | c.748C>T (p.Pro250Ser) c.646C>T (p.Pro216Ser) n.549C>T | |
| 14 | g.50920980G>C | CA389691638 | PYGL | c.748C>G (p.Pro250Ala) c.646C>G (p.Pro216Ala) n.549C>G | |
| 14 | g.50920980G>T | CA389691633 | PYGL | c.748C>A (p.Pro250Thr) c.646C>A (p.Pro216Thr) n.549C>A | |
| 14 | g.50920981T>A | CA486383814 | PYGL | c.747A>T (p.Ala249=) c.645A>T (p.Ala215=) n.548A>T | |
| 14 | g.50920981T>C | CA486383815 | PYGL | c.747A>G (p.Ala249=) c.645A>G (p.Ala215=) n.548A>G | |
| 14 | g.50920981T>G | CA486383817 | PYGL | c.747A>C (p.Ala249=) c.645A>C (p.Ala215=) n.548A>C | |
| 14 | g.50920982G>A | CA389691641 | PYGL | c.746C>T (p.Ala249Val) c.644C>T (p.Ala215Val) n.547C>T | |
| 14 | g.50920982G>C | CA389691642 | PYGL | c.746C>G (p.Ala249Gly) c.644C>G (p.Ala215Gly) n.547C>G | |
| 14 | g.50920982G>T | CA389691644 | PYGL | c.746C>A (p.Ala249Glu) c.644C>A (p.Ala215Glu) n.547C>A | gnomAD v4 |
| 14 | g.50920983C>A | CA389691646 | PYGL | c.745G>T (p.Ala249Ser) c.643G>T (p.Ala215Ser) n.546G>T | |
| 14 | g.50920983C>G | CA389691649 | PYGL | c.745G>C (p.Ala249Pro) c.643G>C (p.Ala215Pro) n.546G>C | gnomAD v4 |
| 14 | g.50920983C>T | CA389691651 | PYGL | c.745G>A (p.Ala249Thr) c.643G>A (p.Ala215Thr) n.546G>A | |
| 14 | g.50920984C>A | CA486383820 | PYGL | c.744G>T (p.Arg248=) c.642G>T (p.Arg214=) n.545G>T | |
| 14 | g.50920984C>G | CA486383821 | PYGL | c.744G>C (p.Arg248=) c.642G>C (p.Arg214=) n.545G>C | |
| 14 | g.50920984C>T | CA486383822 | PYGL | c.744G>A (p.Arg248=) c.642G>A (p.Arg214=) n.545G>A | |
| 14 | g.50920985C>A | CA389691655 | PYGL | c.743G>T (p.Arg248Leu) c.641G>T (p.Arg214Leu) n.544G>T | |
| 14 | g.50920985C= | CA2136421553 | PYGL | c.743G= (p.Arg248=) c.641G= (p.Arg214=) n.544G= | |
| 14 | g.50920985C>G | CA389691659 | PYGL | c.743G>C (p.Arg248Pro) c.641G>C (p.Arg214Pro) n.544G>C | dbSNP |
| 14 | g.50920985C>T | CA7183698 | PYGL | c.743G>A (p.Arg248Gln) c.641G>A (p.Arg214Gln) n.544G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920986G>A | CA260830287 | PYGL | c.742C>T (p.Arg248Trp) c.640C>T (p.Arg214Trp) n.543C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50920986G>C | CA389691664 | PYGL | c.742C>G (p.Arg248Gly) c.640C>G (p.Arg214Gly) n.543C>G | |
| 14 | g.50920986G= | CA2136421554 | PYGL | c.742C= (p.Arg248=) c.640C= (p.Arg214=) n.543C= | |
| 14 | g.50920986G>T | CA486383823 | PYGL | c.742C>A (p.Arg248=) c.640C>A (p.Arg214=) n.543C>A | gnomAD v4 |
| 14 | g.50920987A>C | CA486383827 | PYGL | c.741T>G (p.Ala247=) c.639T>G (p.Ala213=) n.542T>G | |
| 14 | g.50920987A>G | CA486383828 | PYGL | c.741T>C (p.Ala247=) c.639T>C (p.Ala213=) n.542T>C | gnomAD v4 |
| 14 | g.50920987A>T | CA486383829 | PYGL | c.741T>A (p.Ala247=) c.639T>A (p.Ala213=) n.542T>A | |
| 14 | g.50920988G>A | CA389691668 | PYGL | c.740C>T (p.Ala247Val) c.638C>T (p.Ala213Val) n.541C>T | gnomAD v4 |
| 14 | g.50920988G>C | CA389691671 | PYGL | c.740C>G (p.Ala247Gly) c.638C>G (p.Ala213Gly) n.541C>G | |
| 14 | g.50920988G>T | CA389691672 | PYGL | c.740C>A (p.Ala247Asp) c.638C>A (p.Ala213Asp) n.541C>A | |
| 14 | g.50920989C>A | CA389691680 | PYGL | c.739G>T (p.Ala247Ser) c.637G>T (p.Ala213Ser) n.540G>T | |
| 14 | g.50920989C>G | CA389691678 | PYGL | c.739G>C (p.Ala247Pro) c.637G>C (p.Ala213Pro) n.540G>C | |
| 14 | g.50920989C>T | CA389691675 | PYGL | c.739G>A (p.Ala247Thr) c.637G>A (p.Ala213Thr) n.540G>A | |
| 14 | g.50920990A= | CA2136421555 | PYGL | c.738T= (p.Ser246=) c.636T= (p.Ser212=) n.539T= | |
| 14 | g.50920990A>C | CA486383833 | PYGL | c.738T>G (p.Ser246=) c.636T>G (p.Ser212=) n.539T>G | dbSNP gnomAD v4 |
| 14 | g.50920990A>G | CA486383834 | PYGL | c.738T>C (p.Ser246=) c.636T>C (p.Ser212=) n.539T>C | |
| 14 | g.50920990A>T | CA486383835 | PYGL | c.738T>A (p.Ser246=) c.636T>A (p.Ser212=) n.539T>A | |
| 14 | g.50920991G>A | CA389691686 | PYGL | c.737C>T (p.Ser246Phe) c.635C>T (p.Ser212Phe) n.538C>T | |
| 14 | g.50920991G>C | CA389691684 | PYGL | c.737C>G (p.Ser246Cys) c.635C>G (p.Ser212Cys) n.538C>G | |
| 14 | g.50920991G>T | CA389691689 | PYGL | c.737C>A (p.Ser246Tyr) c.635C>A (p.Ser212Tyr) n.538C>A | |
| 14 | g.50920992A= | CA2136421556 | PYGL | c.736T= (p.Ser246=) c.634T= (p.Ser212=) n.537T= | |
| 14 | g.50920992A>C | CA389691691 | PYGL | c.736T>G (p.Ser246Ala) c.634T>G (p.Ser212Ala) n.537T>G | |
| 14 | g.50920992A>G | CA389691692 | PYGL | c.736T>C (p.Ser246Pro) c.634T>C (p.Ser212Pro) n.537T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50920992A>T | CA389691694 | PYGL | c.736T>A (p.Ser246Thr) c.634T>A (p.Ser212Thr) n.537T>A | |
| 14 | g.50920993C>A | CA389691696 | PYGL | c.735G>T (p.Trp245Cys) c.633G>T (p.Trp211Cys) n.536G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50920993C= | CA2136421557 | PYGL | c.735G= (p.Trp245=) c.633G= (p.Trp211=) n.536G= | |
| 14 | g.50920993C>G | CA389691699 | PYGL | c.735G>C (p.Trp245Cys) c.633G>C (p.Trp211Cys) n.536G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50920993C>T | CA7183699 | PYGL | c.735G>A (p.Trp245Ter) c.633G>A (p.Trp211Ter) n.536G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50920994C>A | CA389691703 | PYGL | c.734G>T (p.Trp245Leu) c.632G>T (p.Trp211Leu) n.535G>T | COSMIC |
| 14 | g.50920994C= | CA2136421558 | PYGL | c.734G= (p.Trp245=) c.632G= (p.Trp211=) n.535G= | |
| 14 | g.50920994C>G | CA389691705 | PYGL | c.734G>C (p.Trp245Ser) c.632G>C (p.Trp211Ser) n.535G>C | |
| 14 | g.50920994C>T | CA389691706 | PYGL | c.734G>A (p.Trp245Ter) c.632G>A (p.Trp211Ter) n.535G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50920995A>C | CA389691709 | PYGL | c.733T>G (p.Trp245Gly) c.631T>G (p.Trp211Gly) n.534T>G | |
| 14 | g.50920995A>G | CA389691712 | PYGL | c.733T>C (p.Trp245Arg) c.631T>C (p.Trp211Arg) n.534T>C | |
| 14 | g.50920995A>T | CA389691715 | PYGL | c.733T>A (p.Trp245Arg) c.631T>A (p.Trp211Arg) n.534T>A | |
| 14 | g.50920996del | CA486383841 | PYGL | c.732del (p.Trp245GlyfsTer?) c.630del (p.Trp211GlyfsTer?) n.533del | COSMIC |
| 14 | g.50920996G>A | CA486383839 | PYGL | c.732C>T (p.Leu244=) c.630C>T (p.Leu210=) n.533C>T | |
| 14 | g.50920996G>C | CA260830290 | PYGL | c.732C>G (p.Leu244=) c.630C>G (p.Leu210=) n.533C>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50920996G= | CA2136421559 | PYGL | c.732C= (p.Leu244=) c.630C= (p.Leu210=) n.533C= | |
| 14 | g.50920996G>T | CA486383840 | PYGL | c.732C>A (p.Leu244=) c.630C>A (p.Leu210=) n.533C>A | |
| 14 | g.50920997A>C | CA389691723 | PYGL | c.731T>G (p.Leu244Arg) c.629T>G (p.Leu210Arg) n.532T>G | |
| 14 | g.50920997A>G | CA389691720 | PYGL | c.731T>C (p.Leu244Pro) c.629T>C (p.Leu210Pro) n.532T>C | |
| 14 | g.50920997A>T | CA389691717 | PYGL | c.731T>A (p.Leu244His) c.629T>A (p.Leu210His) n.532T>A | |
| 14 | g.50920998G>A | CA389691726 | PYGL | c.730C>T (p.Leu244Phe) c.628C>T (p.Leu210Phe) n.531C>T | gnomAD v4 |
| 14 | g.50920998G>C | CA389691727 | PYGL | c.730C>G (p.Leu244Val) c.628C>G (p.Leu210Val) n.531C>G | |
| 14 | g.50920998G>T | CA389691730 | PYGL | c.730C>A (p.Leu244Ile) c.628C>A (p.Leu210Ile) n.531C>A | |
| 14 | g.50920999G>A | CA486383845 | PYGL | c.729C>T (p.Arg243=) c.627C>T (p.Arg209=) n.530C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50920999G>C | CA486383843 | PYGL | c.729C>G (p.Arg243=) c.627C>G (p.Arg209=) n.530C>G | |
| 14 | g.50920999G= | CA2136421560 | PYGL | c.729C= (p.Arg243=) c.627C= (p.Arg209=) n.530C= | |
| 14 | g.50920999G>T | CA486383844 | PYGL | c.729C>A (p.Arg243=) c.627C>A (p.Arg209=) n.530C>A | |
| 14 | g.50921000C>A | CA389691732 | PYGL | c.728G>T (p.Arg243Leu) c.626G>T (p.Arg209Leu) n.529G>T | |
| 14 | g.50921000C= | CA2136421561 | PYGL | c.728G= (p.Arg243=) c.626G= (p.Arg209=) n.529G= | |
| 14 | g.50921000C>G | CA389691734 | PYGL | c.728G>C (p.Arg243Pro) c.626G>C (p.Arg209Pro) n.529G>C | |
| 14 | g.50921000C>T | CA389691737 | PYGL | c.728G>A (p.Arg243His) c.626G>A (p.Arg209His) n.529G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.50921001G>A | CA260830296 | PYGL | c.727C>T (p.Arg243Cys) c.625C>T (p.Arg209Cys) n.528C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50921001G>C | CA389691751 | PYGL | c.727C>G (p.Arg243Gly) c.625C>G (p.Arg209Gly) n.528C>G | |
| 14 | g.50921001G= | CA2136421562 | PYGL | c.727C= (p.Arg243=) c.625C= (p.Arg209=) n.528C= | |
| 14 | g.50921001G>T | CA389691755 | PYGL | c.727C>A (p.Arg243Ser) c.625C>A (p.Arg209Ser) n.528C>A | gnomAD v4 |
| 14 | g.50921002C>A | CA389691757 | PYGL | c.726G>T (p.Met242Ile) c.624G>T (p.Met208Ile) n.527G>T | |
| 14 | g.50921002C>G | CA389691759 | PYGL | c.726G>C (p.Met242Ile) c.624G>C (p.Met208Ile) n.527G>C | |
| 14 | g.50921002C>T | CA389691762 | PYGL | c.726G>A (p.Met242Ile) c.624G>A (p.Met208Ile) n.527G>A | |
| 14 | g.50921003A= | CA2136421563 | PYGL | c.725T= (p.Met242=) c.623T= (p.Met208=) n.526T= | |
| 14 | g.50921003A>C | CA389691768 | PYGL | c.725T>G (p.Met242Arg) c.623T>G (p.Met208Arg) n.526T>G | |
| 14 | g.50921003A>G | CA7183700 | PYGL | c.725T>C (p.Met242Thr) c.623T>C (p.Met208Thr) n.526T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50921003A>T | CA389691765 | PYGL | c.725T>A (p.Met242Lys) c.623T>A (p.Met208Lys) n.526T>A | gnomAD v4 |
| 14 | g.50921004T>A | CA389691772 | PYGL | c.724A>T (p.Met242Leu) c.622A>T (p.Met208Leu) n.525A>T | |
| 14 | g.50921004T>C | CA260830311 | PYGL | c.724A>G (p.Met242Val) c.622A>G (p.Met208Val) n.525A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921004T>G | CA389691777 | PYGL | c.724A>C (p.Met242Leu) c.622A>C (p.Met208Leu) n.525A>C | |
| 14 | g.50921004T= | CA2136421564 | PYGL | c.724A= (p.Met242=) c.622A= (p.Met208=) n.525A= | |
| 14 | g.50921005G>A | CA486383850 | PYGL | c.723C>T (p.Thr241=) c.621C>T (p.Thr207=) n.524C>T | gnomAD v4 |
| 14 | g.50921005G>C | CA486383853 | PYGL | c.723C>G (p.Thr241=) c.621C>G (p.Thr207=) n.524C>G | |
| 14 | g.50921005G>T | CA486383851 | PYGL | c.723C>A (p.Thr241=) c.621C>A (p.Thr207=) n.524C>A | |
| 14 | g.50921006G>A | CA389691780 | PYGL | c.722C>T (p.Thr241Ile) c.620C>T (p.Thr207Ile) n.523C>T | gnomAD v4 |
| 14 | g.50921006G>C | CA389691781 | PYGL | c.722C>G (p.Thr241Ser) c.620C>G (p.Thr207Ser) n.523C>G | |
| 14 | g.50921006G>T | CA389691784 | PYGL | c.722C>A (p.Thr241Asn) c.620C>A (p.Thr207Asn) n.523C>A | |
| 14 | g.50921007T>A | CA389691787 | PYGL | c.721A>T (p.Thr241Ser) c.619A>T (p.Thr207Ser) n.522A>T | |
| 14 | g.50921007T>C | CA389691785 | PYGL | c.721A>G (p.Thr241Ala) c.619A>G (p.Thr207Ala) n.522A>G | |
| 14 | g.50921007T>G | CA389691786 | PYGL | c.721A>C (p.Thr241Pro) c.619A>C (p.Thr207Pro) n.522A>C | |
| 14 | g.50921008G>A | CA486383856 | PYGL | c.720C>T (p.Asn240=) c.618C>T (p.Asn206=) n.521C>T | dbSNP gnomAD v4 |
| 14 | g.50921008G>C | CA389691788 | PYGL | c.720C>G (p.Asn240Lys) c.618C>G (p.Asn206Lys) n.521C>G | |
| 14 | g.50921008G= | CA2136421565 | PYGL | c.720C= (p.Asn240=) c.618C= (p.Asn206=) n.521C= | |
| 14 | g.50921008G>T | CA389691789 | PYGL | c.720C>A (p.Asn240Lys) c.618C>A (p.Asn206Lys) n.521C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50921009T>A | CA389691791 | PYGL | c.719A>T (p.Asn240Ile) c.617A>T (p.Asn206Ile) n.520A>T | |
| 14 | g.50921009T>C | CA389691794 | PYGL | c.719A>G (p.Asn240Ser) c.617A>G (p.Asn206Ser) n.520A>G | |
| 14 | g.50921009T>G | CA389691797 | PYGL | c.719A>C (p.Asn240Thr) c.617A>C (p.Asn206Thr) n.520A>C | |
| 14 | g.50921010T>A | CA389691800 | PYGL | c.718A>T (p.Asn240Tyr) c.616A>T (p.Asn206Tyr) n.519A>T | |
| 14 | g.50921010T>C | CA389691807 | PYGL | c.718A>G (p.Asn240Asp) c.616A>G (p.Asn206Asp) n.519A>G | |
| 14 | g.50921010T>G | CA389691803 | PYGL | c.718A>C (p.Asn240His) c.616A>C (p.Asn206His) n.519A>C | |
| 14 | g.50921011G>A | CA486383860 | PYGL | c.717C>T (p.Val239=) c.615C>T (p.Val205=) n.518C>T | |
| 14 | g.50921011G>C | CA486383861 | PYGL | c.717C>G (p.Val239=) c.615C>G (p.Val205=) n.518C>G | |
| 14 | g.50921011G>T | CA486383862 | PYGL | c.717C>A (p.Val239=) c.615C>A (p.Val205=) n.518C>A | |
| 14 | g.50921011_50921013delinsGAC | CA2136421566 | PYGL | c.715_717delinsGTC (p.Val239=) c.613_615delinsGTC (p.Val205=) n.516_518delinsGTC | |
| 14 | g.50921012A>C | CA389691809 | PYGL | c.716T>G (p.Val239Gly) c.614T>G (p.Val205Gly) n.517T>G | |
| 14 | g.50921012A>G | CA389691811 | PYGL | c.716T>C (p.Val239Ala) c.614T>C (p.Val205Ala) n.517T>C | gnomAD v4 |
| 14 | g.50921012A>T | CA389691814 | PYGL | c.716T>A (p.Val239Asp) c.614T>A (p.Val205Asp) n.517T>A | |
| 14 | g.50921013_50921014del | CA7183701 | PYGL | c.715_716del (p.Val239GlnfsTer13) c.613_614del (p.Val205GlnfsTer13) n.516_517del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50921013C>A | CA389691818 | PYGL | c.715G>T (p.Val239Phe) c.613G>T (p.Val205Phe) n.516G>T | |
| 14 | g.50921013C>G | CA389691821 | PYGL | c.715G>C (p.Val239Leu) c.613G>C (p.Val205Leu) n.516G>C | |
| 14 | g.50921013C>T | CA389691823 | PYGL | c.715G>A (p.Val239Ile) c.613G>A (p.Val205Ile) n.516G>A | |
| 14 | g.50921014A= | CA2136421567 | PYGL | c.714T= (p.Thr238=) c.612T= (p.Thr204=) n.515T= | |
| 14 | g.50921014A>C | CA7183702 | PYGL | c.714T>G (p.Thr238=) c.612T>G (p.Thr204=) n.515T>G | dbSNP ExAC gnomAD v2 |
| 14 | g.50921014A>G | CA486383864 | PYGL | c.714T>C (p.Thr238=) c.612T>C (p.Thr204=) n.515T>C | dbSNP |
| 14 | g.50921014A>T | CA486383865 | PYGL | c.714T>A (p.Thr238=) c.612T>A (p.Thr204=) n.515T>A | |
| 14 | g.50921014_50921016delinsAGT | CA2136421568 | PYGL | c.712_714delinsACT (p.Thr238=) c.610_612delinsACT (p.Thr204=) n.513_515delinsACT | |
| 14 | g.50921015G>A | CA389691829 | PYGL | c.713C>T (p.Thr238Ile) c.611C>T (p.Thr204Ile) n.514C>T | |
| 14 | g.50921015G>C | CA389691832 | PYGL | c.713C>G (p.Thr238Ser) c.611C>G (p.Thr204Ser) n.514C>G | |
| 14 | g.50921015G>T | CA389691835 | PYGL | c.713C>A (p.Thr238Asn) c.611C>A (p.Thr204Asn) n.514C>A | |
| 14 | g.50921017_50921018del | CA2136421569 | PYGL | c.712_713del (p.Thr238CysfsTer14) c.610_611del (p.Thr204CysfsTer14) n.513_514del | dbSNP gnomAD v4 |
| 14 | g.50921016T>A | CA7183703 | PYGL | c.712A>T (p.Thr238Ser) c.610A>T (p.Thr204Ser) n.513A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921016T>C | CA389691841 | PYGL | c.712A>G (p.Thr238Ala) c.610A>G (p.Thr204Ala) n.513A>G | |
| 14 | g.50921016T>G | CA389691837 | PYGL | c.712A>C (p.Thr238Pro) c.610A>C (p.Thr204Pro) n.513A>C | |
| 14 | g.50921016T= | CA2136421570 | PYGL | c.712A= (p.Thr238=) c.610A= (p.Thr204=) n.513A= | |
| 14 | g.50921017G>A | CA486383868 | PYGL | c.711C>T (p.Asn237=) c.609C>T (p.Asn203=) n.512C>T | |
| 14 | g.50921017G>C | CA389691842 | PYGL | c.711C>G (p.Asn237Lys) c.609C>G (p.Asn203Lys) n.512C>G | |
| 14 | g.50921017G>T | CA389691845 | PYGL | c.711C>A (p.Asn237Lys) c.609C>A (p.Asn203Lys) n.512C>A | |
| 14 | g.50921018T>A | CA389691850 | PYGL | c.710A>T (p.Asn237Ile) c.608A>T (p.Asn203Ile) n.511A>T | |
| 14 | g.50921018T>C | CA389691853 | PYGL | c.710A>G (p.Asn237Ser) c.608A>G (p.Asn203Ser) n.511A>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50921018T>G | CA389691855 | PYGL | c.710A>C (p.Asn237Thr) c.608A>C (p.Asn203Thr) n.511A>C | |
| 14 | g.50921018T= | CA2136421571 | PYGL | c.710A= (p.Asn237=) c.608A= (p.Asn203=) n.511A= | |
| 14 | g.50921019T>A | CA389691858 | PYGL | c.709A>T (p.Asn237Tyr) c.607A>T (p.Asn203Tyr) n.510A>T | |
| 14 | g.50921019T>C | CA389691861 | PYGL | c.709A>G (p.Asn237Asp) c.607A>G (p.Asn203Asp) n.510A>G | |
| 14 | g.50921019T>G | CA389691863 | PYGL | c.709A>C (p.Asn237His) c.607A>C (p.Asn203His) n.510A>C | |
| 14 | g.50921020A>C | CA389691867 | PYGL | c.708T>G (p.Asn236Lys) c.606T>G (p.Asn202Lys) n.509T>G | |
| 14 | g.50921020A>G | CA486383872 | PYGL | c.708T>C (p.Asn236=) c.606T>C (p.Asn202=) n.509T>C | |
| 14 | g.50921020A>T | CA389691868 | PYGL | c.708T>A (p.Asn236Lys) c.606T>A (p.Asn202Lys) n.509T>A | |
| 14 | g.50921021T>A | CA389691871 | PYGL | c.707A>T (p.Asn236Ile) c.605A>T (p.Asn202Ile) n.508A>T | |
| 14 | g.50921021T>C | CA389691872 | PYGL | c.707A>G (p.Asn236Ser) c.605A>G (p.Asn202Ser) n.508A>G | |
| 14 | g.50921021T>G | CA389691873 | PYGL | c.707A>C (p.Asn236Thr) c.605A>C (p.Asn202Thr) n.508A>C | |
| 14 | g.50921022T>A | CA389691876 | PYGL | c.706A>T (p.Asn236Tyr) c.604A>T (p.Asn202Tyr) n.507A>T | |
| 14 | g.50921022T>C | CA389691875 | PYGL | c.706A>G (p.Asn236Asp) c.604A>G (p.Asn202Asp) n.507A>G | |
| 14 | g.50921022T>G | CA389691874 | PYGL | c.706A>C (p.Asn236His) c.604A>C (p.Asn202His) n.507A>C | |
| 14 | g.50921023C>A | CA389691879 | PYGL | c.705G>T (p.Met235Ile) c.603G>T (p.Met201Ile) n.506G>T | |
| 14 | g.50921023C>G | CA389691882 | PYGL | c.705G>C (p.Met235Ile) c.603G>C (p.Met201Ile) n.506G>C | |
| 14 | g.50921023C>T | CA389691888 | PYGL | c.705G>A (p.Met235Ile) c.603G>A (p.Met201Ile) n.506G>A | |
| 14 | g.50921024A= | CA2136421572 | PYGL | c.704T= (p.Met235=) c.602T= (p.Met201=) n.505T= | |
| 14 | g.50921024A>C | CA389691891 | PYGL | c.704T>G (p.Met235Arg) c.602T>G (p.Met201Arg) n.505T>G | |
| 14 | g.50921024A>G | CA7183704 | PYGL | c.704T>C (p.Met235Thr) c.602T>C (p.Met201Thr) n.505T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921024A>T | CA389691895 | PYGL | c.704T>A (p.Met235Lys) c.602T>A (p.Met201Lys) n.505T>A | |
| 14 | g.50921025T>A | CA389691899 | PYGL | c.703A>T (p.Met235Leu) c.601A>T (p.Met201Leu) n.504A>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50921025T>C | CA389691900 | PYGL | c.703A>G (p.Met235Val) c.601A>G (p.Met201Val) n.504A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921025T>G | CA389691902 | PYGL | c.703A>C (p.Met235Leu) c.601A>C (p.Met201Leu) n.504A>C | |
| 14 | g.50921025T= | CA2136421573 | PYGL | c.703A= (p.Met235=) c.601A= (p.Met201=) n.504A= | |
| 14 | g.50921026G>A | CA486383877 | PYGL | c.702C>T (p.Tyr234=) c.600C>T (p.Tyr200=) n.503C>T | |
| 14 | g.50921026G>C | CA389691904 | PYGL | c.702C>G (p.Tyr234Ter) c.600C>G (p.Tyr200Ter) n.503C>G | |
| 14 | g.50921026G>T | CA389691906 | PYGL | c.702C>A (p.Tyr234Ter) c.600C>A (p.Tyr200Ter) n.503C>A | |
| 14 | g.50921027T>A | CA389691909 | PYGL | c.701A>T (p.Tyr234Phe) c.599A>T (p.Tyr200Phe) n.502A>T | |
| 14 | g.50921027T>C | CA389691911 | PYGL | c.701A>G (p.Tyr234Cys) c.599A>G (p.Tyr200Cys) n.502A>G | gnomAD v4 |
| 14 | g.50921027T>G | CA389691913 | PYGL | c.701A>C (p.Tyr234Ser) c.599A>C (p.Tyr200Ser) n.502A>C | |
| 14 | g.50921028A>C | CA389691918 | PYGL | c.700T>G (p.Tyr234Asp) c.598T>G (p.Tyr200Asp) n.501T>G | |
| 14 | g.50921028A>G | CA389691920 | PYGL | c.700T>C (p.Tyr234His) c.598T>C (p.Tyr200His) n.501T>C | gnomAD v4 |
| 14 | g.50921028A>T | CA389691915 | PYGL | c.700T>A (p.Tyr234Asn) c.598T>A (p.Tyr200Asn) n.501T>A | |
| 14 | g.50921029G>A | CA486383879 | PYGL | c.699C>T (p.Gly233=) c.597C>T (p.Gly199=) n.500C>T | |
| 14 | g.50921029G>C | CA486383880 | PYGL | c.699C>G (p.Gly233=) c.597C>G (p.Gly199=) n.500C>G | |
| 14 | g.50921029G>T | CA486383881 | PYGL | c.699C>A (p.Gly233=) c.597C>A (p.Gly199=) n.500C>A | |
| 14 | g.50921030C>A | CA389691923 | PYGL | c.698G>T (p.Gly233Val) c.596G>T (p.Gly199Val) n.499G>T | |
| 14 | g.50921030C= | CA2136421574 | PYGL | c.698G= (p.Gly233=) c.596G= (p.Gly199=) n.499G= | |
| 14 | g.50921030C>G | CA389691925 | PYGL | c.698G>C (p.Gly233Ala) c.596G>C (p.Gly199Ala) n.499G>C | |
| 14 | g.50921030C>T | CA341926 | PYGL | c.698G>A (p.Gly233Asp) c.596G>A (p.Gly199Asp) n.499G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50921031C>A | CA7183706 | PYGL | c.697G>T (p.Gly233Cys) c.595G>T (p.Gly199Cys) n.498G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50921031C= | CA2136421575 | PYGL | c.697G= (p.Gly233=) c.595G= (p.Gly199=) n.498G= | |
| 14 | g.50921031C>G | CA389691932 | PYGL | c.697G>C (p.Gly233Arg) c.595G>C (p.Gly199Arg) n.498G>C | |
| 14 | g.50921031C>T | CA7183705 | PYGL | c.697G>A (p.Gly233Ser) c.595G>A (p.Gly199Ser) n.498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50921032G>A | CA7183707 | PYGL | c.696C>T (p.Pro232=) c.594C>T (p.Pro198=) n.497C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921032G>C | CA486383886 | PYGL | c.696C>G (p.Pro232=) c.594C>G (p.Pro198=) n.497C>G | gnomAD v4 |
| 14 | g.50921032G= | CA2136421576 | PYGL | c.696C= (p.Pro232=) c.594C= (p.Pro198=) n.497C= | |
| 14 | g.50921032G>T | CA486383887 | PYGL | c.696C>A (p.Pro232=) c.594C>A (p.Pro198=) n.497C>A | |
| 14 | g.50921033G>A | CA389691941 | PYGL | c.695C>T (p.Pro232Leu) c.593C>T (p.Pro198Leu) n.496C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50921033G>C | CA389691944 | PYGL | c.695C>G (p.Pro232Arg) c.593C>G (p.Pro198Arg) n.496C>G | |
| 14 | g.50921033G= | CA2136421577 | PYGL | c.695C= (p.Pro232=) c.593C= (p.Pro198=) n.496C= | |
| 14 | g.50921033G>T | CA389691946 | PYGL | c.695C>A (p.Pro232His) c.593C>A (p.Pro198His) n.496C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921034G>A | CA389691949 | PYGL | c.694C>T (p.Pro232Ser) c.592C>T (p.Pro198Ser) n.495C>T | dbSNP COSMIC |
| 14 | g.50921034G>C | CA389691952 | PYGL | c.694C>G (p.Pro232Ala) c.592C>G (p.Pro198Ala) n.495C>G | |
| 14 | g.50921034G= | CA2136421578 | PYGL | c.694C= (p.Pro232=) c.592C= (p.Pro198=) n.495C= | |
| 14 | g.50921034G>T | CA389691955 | PYGL | c.694C>A (p.Pro232Thr) c.592C>A (p.Pro198Thr) n.495C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50921035C>A | CA486383891 | PYGL | c.693G>T (p.Val231=) c.591G>T (p.Val197=) n.494G>T | |
| 14 | g.50921035C= | CA2136421579 | PYGL | c.693G= (p.Val231=) c.591G= (p.Val197=) n.494G= | |
| 14 | g.50921035C>G | CA486383892 | PYGL | c.693G>C (p.Val231=) c.591G>C (p.Val197=) n.494G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50921035C>T | CA486383893 | PYGL | c.693G>A (p.Val231=) c.591G>A (p.Val197=) n.494G>A |