Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42910912_42911425delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | CA2260697314 | G6PC1 | c.563-3_1073delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.447-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA c.486-3_*465delinsCAGGCATTGCTGTTGCAGAAACTTTCAGCCACATCCACAGCATCTATAATGCCAGCCTCAAGAAATATTTTCTCATTACCTTCTTCCTGTTCAGCTTCGCCATCGGATTTTATCTGCTGCTCAAGGGACTGGGTGTAGACCTCCTGTGGACTCTGGAGAAAGCCCAGAGGTGGTGCGAGCAGCCAGAATGGGTCCACATTGACACCACACCCTTTGCCAGCCTCCTCAAGAACCTGGGCACGCTCTTTGGCCTGGGGCTGGCTCTCAACTCCAGCATGTACAGGGAGAGCTGCAAGGGGAAACTCAGCAAGTGGCTCCCATTCCGCCTCAGCTCTATTGTAGCCTCCCTCGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCCAAGTCGAGCTGGTCTTCTACGTCTTGTCCTTCTGCAAGAGTGCGGTAGTGCCCCTGGCATCCGTCAGTGTCATCCCCTACTGCCTCGCCCAGGTCCTGGGCCAGCCGCACAAGAAGTCGTTGTA | |
17 | g.42910915_42911427del | CA1139665564 | G6PC1 | c.563_*1del c.447_*467del c.486_*467del | ClinVar dbSNP |
17 | g.42911339G>A | CA500229429 | G6PC1 | c.987G>A (p.Lys329=) c.*379G>A (n.*379G>A) | |
17 | g.42911339G>C | CA399657483 | G6PC1 | c.987G>C (p.Lys329Asn) c.*379G>C (n.*379G>C) | |
17 | g.42911339G>T | CA399657486 | G6PC1 | c.987G>T (p.Lys329Asn) c.*379G>T (n.*379G>T) | |
17 | g.42911340A>C | CA399657487 | G6PC1 | c.988A>C (p.Ser330Arg) c.*380A>C (n.*380A>C) | |
17 | g.42911340A>G | CA399657488 | G6PC1 | c.988A>G (p.Ser330Gly) c.*380A>G (n.*380A>G) | |
17 | g.42911340A>T | CA399657489 | G6PC1 | c.988A>T (p.Ser330Cys) c.*380A>T (n.*380A>T) | |
17 | g.42911341G>A | CA399657490 | G6PC1 | c.989G>A (p.Ser330Asn) c.*381G>A (n.*381G>A) | gnomAD v4 |
17 | g.42911341G>C | CA399657492 | G6PC1 | c.989G>C (p.Ser330Thr) c.*381G>C (n.*381G>C) | |
17 | g.42911341G>T | CA399657491 | G6PC1 | c.989G>T (p.Ser330Ile) c.*381G>T (n.*381G>T) | |
17 | g.42911342T>A | CA399657493 | G6PC1 | c.990T>A (p.Ser330Arg) c.*382T>A (n.*382T>A) | |
17 | g.42911342T>C | CA8587690 | G6PC1 | c.990T>C (p.Ser330=) c.*382T>C (n.*382T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911342T>G | CA399657494 | G6PC1 | c.990T>G (p.Ser330Arg) c.*382T>G (n.*382T>G) | ClinVar dbSNP |
17 | g.42911342T= | CA2260697494 | G6PC1 | c.990T= (p.Ser330=) c.*382T= (n.*382T=) | |
17 | g.42911343G>A | CA399657495 | G6PC1 | c.991G>A (p.Ala331Thr) c.*383G>A (n.*383G>A) | gnomAD v4 |
17 | g.42911343G>C | CA399657496 | G6PC1 | c.991G>C (p.Ala331Pro) c.*383G>C (n.*383G>C) | |
17 | g.42911343G>T | CA399657498 | G6PC1 | c.991G>T (p.Ala331Ser) c.*383G>T (n.*383G>T) | |
17 | g.42911344C>A | CA399657501 | G6PC1 | c.992C>A (p.Ala331Glu) c.*384C>A (n.*384C>A) | |
17 | g.42911344C= | CA2260697495 | G6PC1 | c.992C= (p.Ala331=) c.*384C= (n.*384C=) | |
17 | g.42911344C>G | CA399657503 | G6PC1 | c.992C>G (p.Ala331Gly) c.*384C>G (n.*384C>G) | gnomAD v4 |
17 | g.42911344C>T | CA8587691 | G6PC1 | c.992C>T (p.Ala331Val) c.*384C>T (n.*384C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911345G>A | CA8587692 | G6PC1 | c.993G>A (p.Ala331=) c.*385G>A (n.*385G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911345G>C | CA8587693 | G6PC1 | c.993G>C (p.Ala331=) c.*385G>C (n.*385G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911345G= | CA2260697496 | G6PC1 | c.993G= (p.Ala331=) c.*385G= (n.*385G=) | |
17 | g.42911345G>T | CA500229432 | G6PC1 | c.993G>T (p.Ala331=) c.*385G>T (n.*385G>T) | |
17 | g.42911346G>A | CA399657518 | G6PC1 | c.994G>A (p.Val332Ile) c.*386G>A (n.*386G>A) | |
17 | g.42911346G>C | CA399657516 | G6PC1 | c.994G>C (p.Val332Leu) c.*386G>C (n.*386G>C) | |
17 | g.42911346G>T | CA399657514 | G6PC1 | c.994G>T (p.Val332Leu) c.*386G>T (n.*386G>T) | |
17 | g.42911347T>A | CA399657524 | G6PC1 | c.995T>A (p.Val332Glu) c.*387T>A (n.*387T>A) | |
17 | g.42911347T>C | CA399657519 | G6PC1 | c.995T>C (p.Val332Ala) c.*387T>C (n.*387T>C) | |
17 | g.42911347T>G | CA399657522 | G6PC1 | c.995T>G (p.Val332Gly) c.*387T>G (n.*387T>G) | |
17 | g.42911348A>C | CA500229435 | G6PC1 | c.996A>C (p.Val332=) c.*388A>C (n.*388A>C) | |
17 | g.42911348A>G | CA500229436 | G6PC1 | c.996A>G (p.Val332=) c.*388A>G (n.*388A>G) | |
17 | g.42911348A>T | CA500229437 | G6PC1 | c.996A>T (p.Val332=) c.*388A>T (n.*388A>T) | |
17 | g.42911349G>A | CA399657526 | G6PC1 | c.997G>A (p.Val333Met) c.*389G>A (n.*389G>A) | |
17 | g.42911349G>C | CA399657527 | G6PC1 | c.997G>C (p.Val333Leu) c.*389G>C (n.*389G>C) | |
17 | g.42911349G>T | CA399657531 | G6PC1 | c.997G>T (p.Val333Leu) c.*389G>T (n.*389G>T) | |
17 | g.42911350T>A | CA399657533 | G6PC1 | c.998T>A (p.Val333Glu) c.*390T>A (n.*390T>A) | |
17 | g.42911350T>C | CA399657535 | G6PC1 | c.998T>C (p.Val333Ala) c.*390T>C (n.*390T>C) | |
17 | g.42911350T>G | CA399657538 | G6PC1 | c.998T>G (p.Val333Gly) c.*390T>G (n.*390T>G) | |
17 | g.42911351G>A | CA500229440 | G6PC1 | c.999G>A (p.Val333=) c.*391G>A (n.*391G>A) | ClinVar dbSNP |
17 | g.42911351G>C | CA500229442 | G6PC1 | c.999G>C (p.Val333=) c.*391G>C (n.*391G>C) | |
17 | g.42911351G>T | CA500229441 | G6PC1 | c.999G>T (p.Val333=) c.*391G>T (n.*391G>T) | |
17 | g.42911352C>A | CA399657541 | G6PC1 | c.1000C>A (p.Pro334Thr) c.*392C>A (n.*392C>A) | |
17 | g.42911352C= | CA2260697497 | G6PC1 | c.1000C= (p.Pro334=) c.*392C= (n.*392C=) | |
17 | g.42911352C>G | CA399657543 | G6PC1 | c.1000C>G (p.Pro334Ala) c.*392C>G (n.*392C>G) | |
17 | g.42911352C>T | CA8587694 | G6PC1 | c.1000C>T (p.Pro334Ser) c.*392C>T (n.*392C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911353C>A | CA399657547 | G6PC1 | c.1001C>A (p.Pro334His) c.*393C>A (n.*393C>A) | |
17 | g.42911353C= | CA2260697498 | G6PC1 | c.1001C= (p.Pro334=) c.*393C= (n.*393C=) | |
17 | g.42911353C>G | CA399657549 | G6PC1 | c.1001C>G (p.Pro334Arg) c.*393C>G (n.*393C>G) | |
17 | g.42911353C>T | CA399657551 | G6PC1 | c.1001C>T (p.Pro334Leu) c.*393C>T (n.*393C>T) | dbSNP gnomAD v2 |
17 | g.42911354C>A | CA500229444 | G6PC1 | c.1002C>A (p.Pro334=) c.*394C>A (n.*394C>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911354C= | CA2260697499 | G6PC1 | c.1002C= (p.Pro334=) c.*394C= (n.*394C=) | |
17 | g.42911354C>G | CA500229443 | G6PC1 | c.1002C>G (p.Pro334=) c.*394C>G (n.*394C>G) | |
17 | g.42911354C>T | CA8587695 | G6PC1 | c.1002C>T (p.Pro334=) c.*394C>T (n.*394C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911355C>A | CA399657556 | G6PC1 | c.1003C>A (p.Leu335Met) c.*395C>A (n.*395C>A) | |
17 | g.42911355C= | CA2260697500 | G6PC1 | c.1003C= (p.Leu335=) c.*395C= (n.*395C=) | |
17 | g.42911355C>G | CA399657558 | G6PC1 | c.1003C>G (p.Leu335Val) c.*395C>G (n.*395C>G) | |
17 | g.42911355C>T | CA500229445 | G6PC1 | c.1003C>T (p.Leu335=) c.*395C>T (n.*395C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911356del | CA2638041653 | G6PC1 | c.1004del (p.Leu335ArgfsTer?) c.*396del (n.*396del) | ClinVar gnomAD v4 |
17 | g.42911356T>A | CA399657560 | G6PC1 | c.1004T>A (p.Leu335Gln) c.*396T>A (n.*396T>A) | |
17 | g.42911356T>C | CA8587696 | G6PC1 | c.1004T>C (p.Leu335Pro) c.*396T>C (n.*396T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911356T>G | CA399657564 | G6PC1 | c.1004T>G (p.Leu335Arg) c.*396T>G (n.*396T>G) | |
17 | g.42911356T= | CA2260697501 | G6PC1 | c.1004T= (p.Leu335=) c.*396T= (n.*396T=) | |
17 | g.42911357G>A | CA500229447 | G6PC1 | c.1005G>A (p.Leu335=) c.*397G>A (n.*397G>A) | ClinVar |
17 | g.42911357G>C | CA500229448 | G6PC1 | c.1005G>C (p.Leu335=) c.*397G>C (n.*397G>C) | |
17 | g.42911357G>T | CA500229449 | G6PC1 | c.1005G>T (p.Leu335=) c.*397G>T (n.*397G>T) | |
17 | g.42911358G>A | CA399657566 | G6PC1 | c.1006G>A (p.Ala336Thr) c.*398G>A (n.*398G>A) | |
17 | g.42911358G>C | CA399657568 | G6PC1 | c.1006G>C (p.Ala336Pro) c.*398G>C (n.*398G>C) | |
17 | g.42911358G>T | CA399657570 | G6PC1 | c.1006G>T (p.Ala336Ser) c.*398G>T (n.*398G>T) | |
17 | g.42911359C>A | CA399657572 | G6PC1 | c.1007C>A (p.Ala336Glu) c.*399C>A (n.*399C>A) | ClinVar dbSNP |
17 | g.42911359C= | CA2260697502 | G6PC1 | c.1007C= (p.Ala336=) c.*399C= (n.*399C=) | |
17 | g.42911359C>G | CA399657573 | G6PC1 | c.1007C>G (p.Ala336Gly) c.*399C>G (n.*399C>G) | |
17 | g.42911359C>T | CA399657576 | G6PC1 | c.1007C>T (p.Ala336Val) c.*399C>T (n.*399C>T) | gnomAD v4 |
17 | g.42911360A>C | CA500229451 | G6PC1 | c.1008A>C (p.Ala336=) c.*400A>C (n.*400A>C) | |
17 | g.42911360A>G | CA500229452 | G6PC1 | c.1008A>G (p.Ala336=) c.*400A>G (n.*400A>G) | ClinVar |
17 | g.42911360A>T | CA500229453 | G6PC1 | c.1008A>T (p.Ala336=) c.*400A>T (n.*400A>T) | |
17 | g.42911361T>A | CA399657579 | G6PC1 | c.1009T>A (p.Ser337Thr) c.*401T>A (n.*401T>A) | |
17 | g.42911361T>C | CA399657582 | G6PC1 | c.1009T>C (p.Ser337Pro) c.*401T>C (n.*401T>C) | |
17 | g.42911361T>G | CA399657583 | G6PC1 | c.1009T>G (p.Ser337Ala) c.*401T>G (n.*401T>G) | |
17 | g.42911362C>A | CA399657587 | G6PC1 | c.1010C>A (p.Ser337Tyr) c.*402C>A (n.*402C>A) | |
17 | g.42911362C>G | CA399657588 | G6PC1 | c.1010C>G (p.Ser337Cys) c.*402C>G (n.*402C>G) | |
17 | g.42911362C>T | CA399657586 | G6PC1 | c.1010C>T (p.Ser337Phe) c.*402C>T (n.*402C>T) | |
17 | g.42911363C>A | CA500229457 | G6PC1 | c.1011C>A (p.Ser337=) c.*403C>A (n.*403C>A) | gnomAD v4 |
17 | g.42911363C= | CA2260697503 | G6PC1 | c.1011C= (p.Ser337=) c.*403C= (n.*403C=) | |
17 | g.42911363C>G | CA500229458 | G6PC1 | c.1011C>G (p.Ser337=) c.*403C>G (n.*403C>G) | |
17 | g.42911363C>T | CA8587697 | G6PC1 | c.1011C>T (p.Ser337=) c.*403C>T (n.*403C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911364G>A | CA8587698 | G6PC1 | c.1012G>A (p.Val338Ile) c.*404G>A (n.*404G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42911364G>C | CA399657591 | G6PC1 | c.1012G>C (p.Val338Leu) c.*404G>C (n.*404G>C) | |
17 | g.42911364G= | CA2260697504 | G6PC1 | c.1012G= (p.Val338=) c.*404G= (n.*404G=) | |
17 | g.42911364G>T | CA274168 | G6PC1 | c.1012G>T (p.Val338Phe) c.*404G>T (n.*404G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911365T>A | CA399657596 | G6PC1 | c.1013T>A (p.Val338Asp) c.*405T>A (n.*405T>A) | |
17 | g.42911365T>C | CA399657597 | G6PC1 | c.1013T>C (p.Val338Ala) c.*405T>C (n.*405T>C) | |
17 | g.42911365T>G | CA399657600 | G6PC1 | c.1013T>G (p.Val338Gly) c.*405T>G (n.*405T>G) | |
17 | g.42911366C>A | CA500229462 | G6PC1 | c.1014C>A (p.Val338=) c.*406C>A (n.*406C>A) | |
17 | g.42911366C>G | CA500229460 | G6PC1 | c.1014C>G (p.Val338=) c.*406C>G (n.*406C>G) | |
17 | g.42911366C>T | CA500229461 | G6PC1 | c.1014C>T (p.Val338=) c.*406C>T (n.*406C>T) | ClinVar dbSNP |
17 | g.42911367A>C | CA399657602 | G6PC1 | c.1015A>C (p.Ser339Arg) c.*407A>C (n.*407A>C) | |
17 | g.42911367A>G | CA399657603 | G6PC1 | c.1015A>G (p.Ser339Gly) c.*407A>G (n.*407A>G) | |
17 | g.42911367A>T | CA399657605 | G6PC1 | c.1015A>T (p.Ser339Cys) c.*407A>T (n.*407A>T) | |
17 | g.42911368G>A | CA399657607 | G6PC1 | c.1016G>A (p.Ser339Asn) c.*408G>A (n.*408G>A) | gnomAD v4 |
17 | g.42911368G>C | CA399657611 | G6PC1 | c.1016G>C (p.Ser339Thr) c.*408G>C (n.*408G>C) | dbSNP |
17 | g.42911368G= | CA2260697505 | G6PC1 | c.1016G= (p.Ser339=) c.*408G= (n.*408G=) | |
17 | g.42911368G>T | CA399657612 | G6PC1 | c.1016G>T (p.Ser339Ile) c.*408G>T (n.*408G>T) | |
17 | g.42911369T>A | CA399657616 | G6PC1 | c.1017T>A (p.Ser339Arg) c.*409T>A (n.*409T>A) | |
17 | g.42911369T>C | CA500229467 | G6PC1 | c.1017T>C (p.Ser339=) c.*409T>C (n.*409T>C) | dbSNP |
17 | g.42911369T>G | CA399657619 | G6PC1 | c.1017T>G (p.Ser339Arg) c.*409T>G (n.*409T>G) | |
17 | g.42911369T= | CA2260697509 | G6PC1 | c.1017T= (p.Ser339=) c.*409T= (n.*409T=) | |
17 | g.42911369_42911372delinsTGTC | CA2260697506 | G6PC1 | c.1017_1020delinsTGTC (p.Ser339=) c.*409_*412delinsTGTC (n.*409_*412delinsTGTC) | |
17 | g.42911369_42911378delinsTGTCATCCCC | CA2260697507 | G6PC1 | c.1017_1026delinsTGTCATCCCC (p.Ser339=) c.*409_*418delinsTGTCATCCCC (n.*409_*418delinsTGTCATCCCC) | |
17 | g.42911369_42911379delinsTGTCATCCCCT | CA2260697508 | G6PC1 | c.1017_1027delinsTGTCATCCCCT (p.Ser339=) c.*409_*419delinsTGTCATCCCCT (n.*409_*419delinsTGTCATCCCCT) | |
17 | g.42911370G>A | CA399657624 | G6PC1 | c.1018G>A (p.Val340Ile) c.*410G>A (n.*410G>A) | gnomAD v4 |
17 | g.42911370G>C | CA399657634 | G6PC1 | c.1018G>C (p.Val340Leu) c.*410G>C (n.*410G>C) | |
17 | g.42911370G>T | CA399657630 | G6PC1 | c.1018G>T (p.Val340Phe) c.*410G>T (n.*410G>T) | |
17 | g.42911370_42911372del | CA8587699 | G6PC1 | c.1018_1020del (p.Val340del) c.*410_*412del (n.*410_*412del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911370_42911378del | CA772150990 | G6PC1 | c.1018_1026del (p.Val340_Pro342del) c.*410_*418del (n.*410_*418del) | ClinVar dbSNP |
17 | g.42911370_42911379delinsA | CA658658619 | G6PC1 | c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) c.*410_*419delinsA (n.*410_*419delinsA) | ClinVar dbSNP |
17 | g.42911371T>A | CA399657637 | G6PC1 | c.1019T>A (p.Val340Asp) c.*411T>A (n.*411T>A) | |
17 | g.42911371T>C | CA399657639 | G6PC1 | c.1019T>C (p.Val340Ala) c.*411T>C (n.*411T>C) | |
17 | g.42911371T>G | CA399657642 | G6PC1 | c.1019T>G (p.Val340Gly) c.*411T>G (n.*411T>G) | |
17 | g.42911372C>A | CA500229470 | G6PC1 | c.1020C>A (p.Val340=) c.*412C>A (n.*412C>A) | gnomAD v4 |
17 | g.42911372C>G | CA500229472 | G6PC1 | c.1020C>G (p.Val340=) c.*412C>G (n.*412C>G) | |
17 | g.42911372C>T | CA500229471 | G6PC1 | c.1020C>T (p.Val340=) c.*412C>T (n.*412C>T) | ClinVar gnomAD v4 COSMIC |
17 | g.42911373A>C | CA399657645 | G6PC1 | c.1021A>C (p.Ile341Leu) c.*413A>C (n.*413A>C) | |
17 | g.42911373A>G | CA399657649 | G6PC1 | c.1021A>G (p.Ile341Val) c.*413A>G (n.*413A>G) | |
17 | g.42911373A>T | CA399657661 | G6PC1 | c.1021A>T (p.Ile341Phe) c.*413A>T (n.*413A>T) | |
17 | g.42911373_42911379delinsATCCCCT | CA2260697510 | G6PC1 | c.1021_1027delinsATCCCCT (p.Ile341=) c.*413_*419delinsATCCCCT (n.*413_*419delinsATCCCCT) | |
17 | g.42911374T>A | CA256191 | G6PC1 | c.1022T>A (p.Ile341Asn) c.*414T>A (n.*414T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911374T>C | CA399657667 | G6PC1 | c.1022T>C (p.Ile341Thr) c.*414T>C (n.*414T>C) | dbSNP |
17 | g.42911374T>G | CA399657668 | G6PC1 | c.1022T>G (p.Ile341Ser) c.*414T>G (n.*414T>G) | |
17 | g.42911374T= | CA2260697511 | G6PC1 | c.1022T= (p.Ile341=) c.*414T= (n.*414T=) | |
17 | g.42911374_42911379del | CA8587700 | G6PC1 | c.1022_1027del (p.Ile341_Tyr343delinsAsn) c.*414_*419del (n.*414_*419del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911375C>A | CA500229477 | G6PC1 | c.1023C>A (p.Ile341=) c.*415C>A (n.*415C>A) | ClinVar dbSNP |
17 | g.42911375C= | CA2260697512 | G6PC1 | c.1023C= (p.Ile341=) c.*415C= (n.*415C=) | |
17 | g.42911375C>G | CA399657671 | G6PC1 | c.1023C>G (p.Ile341Met) c.*415C>G (n.*415C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911375C>T | CA500229478 | G6PC1 | c.1023C>T (p.Ile341=) c.*415C>T (n.*415C>T) | ClinVar COSMIC |
17 | g.42911376C>A | CA399657680 | G6PC1 | c.1024C>A (p.Pro342Thr) c.*416C>A (n.*416C>A) | |
17 | g.42911376C>G | CA399657676 | G6PC1 | c.1024C>G (p.Pro342Ala) c.*416C>G (n.*416C>G) | |
17 | g.42911376C>T | CA399657678 | G6PC1 | c.1024C>T (p.Pro342Ser) c.*416C>T (n.*416C>T) | gnomAD v4 |
17 | g.42911377C>A | CA399657685 | G6PC1 | c.1025C>A (p.Pro342His) c.*417C>A (n.*417C>A) | |
17 | g.42911377C>G | CA399657687 | G6PC1 | c.1025C>G (p.Pro342Arg) c.*417C>G (n.*417C>G) | |
17 | g.42911377C>T | CA399657689 | G6PC1 | c.1025C>T (p.Pro342Leu) c.*417C>T (n.*417C>T) | |
17 | g.42911378C>A | CA500229483 | G6PC1 | c.1026C>A (p.Pro342=) c.*418C>A (n.*418C>A) | |
17 | g.42911378C= | CA2260697513 | G6PC1 | c.1026C= (p.Pro342=) c.*418C= (n.*418C=) | |
17 | g.42911378C>G | CA500229485 | G6PC1 | c.1026C>G (p.Pro342=) c.*418C>G (n.*418C>G) | |
17 | g.42911378C>T | CA500229486 | G6PC1 | c.1026C>T (p.Pro342=) c.*418C>T (n.*418C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911379T>A | CA399657693 | G6PC1 | c.1027T>A (p.Tyr343Asn) c.*419T>A (n.*419T>A) | dbSNP |
17 | g.42911379T>C | CA399657695 | G6PC1 | c.1027T>C (p.Tyr343His) c.*419T>C (n.*419T>C) | |
17 | g.42911379T>G | CA399657698 | G6PC1 | c.1027T>G (p.Tyr343Asp) c.*419T>G (n.*419T>G) | |
17 | g.42911379T= | CA2260697514 | G6PC1 | c.1027T= (p.Tyr343=) c.*419T= (n.*419T=) | |
17 | g.42911380A>C | CA399657701 | G6PC1 | c.1028A>C (p.Tyr343Ser) c.*420A>C (n.*420A>C) | |
17 | g.42911380A>G | CA399657702 | G6PC1 | c.1028A>G (p.Tyr343Cys) c.*420A>G (n.*420A>G) | |
17 | g.42911380A>T | CA399657703 | G6PC1 | c.1028A>T (p.Tyr343Phe) c.*420A>T (n.*420A>T) | |
17 | g.42911381C>A | CA399657704 | G6PC1 | c.1029C>A (p.Tyr343Ter) c.*421C>A (n.*421C>A) | |
17 | g.42911381C= | CA2260697515 | G6PC1 | c.1029C= (p.Tyr343=) c.*421C= (n.*421C=) | |
17 | g.42911381C>G | CA399657705 | G6PC1 | c.1029C>G (p.Tyr343Ter) c.*421C>G (n.*421C>G) | |
17 | g.42911381C>T | CA290790225 | G6PC1 | c.1029C>T (p.Tyr343=) c.*421C>T (n.*421C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911382T>A | CA399657713 | G6PC1 | c.1030T>A (p.Cys344Ser) c.*422T>A (n.*422T>A) | |
17 | g.42911382T>C | CA399657707 | G6PC1 | c.1030T>C (p.Cys344Arg) c.*422T>C (n.*422T>C) | |
17 | g.42911382T>G | CA399657710 | G6PC1 | c.1030T>G (p.Cys344Gly) c.*422T>G (n.*422T>G) | |
17 | g.42911383G>A | CA399657716 | G6PC1 | c.1031G>A (p.Cys344Tyr) c.*423G>A (n.*423G>A) | gnomAD v4 COSMIC |
17 | g.42911383G>C | CA399657719 | G6PC1 | c.1031G>C (p.Cys344Ser) c.*423G>C (n.*423G>C) | |
17 | g.42911383G>T | CA399657722 | G6PC1 | c.1031G>T (p.Cys344Phe) c.*423G>T (n.*423G>T) | |
17 | g.42911384C>A | CA399657725 | G6PC1 | c.1032C>A (p.Cys344Ter) c.*424C>A (n.*424C>A) | |
17 | g.42911384C>G | CA399657728 | G6PC1 | c.1032C>G (p.Cys344Trp) c.*424C>G (n.*424C>G) | |
17 | g.42911384C>T | CA500229491 | G6PC1 | c.1032C>T (p.Cys344=) c.*424C>T (n.*424C>T) | |
17 | g.42911385C>A | CA399657731 | G6PC1 | c.1033C>A (p.Leu345Ile) c.*425C>A (n.*425C>A) | |
17 | g.42911385C>G | CA399657733 | G6PC1 | c.1033C>G (p.Leu345Val) c.*425C>G (n.*425C>G) | |
17 | g.42911385C>T | CA399657736 | G6PC1 | c.1033C>T (p.Leu345Phe) c.*425C>T (n.*425C>T) | |
17 | g.42911386T>A | CA399657740 | G6PC1 | c.1034T>A (p.Leu345His) c.*426T>A (n.*426T>A) | |
17 | g.42911386T>C | CA399657742 | G6PC1 | c.1034T>C (p.Leu345Pro) c.*426T>C (n.*426T>C) | |
17 | g.42911386T>G | CA399657745 | G6PC1 | c.1034T>G (p.Leu345Arg) c.*426T>G (n.*426T>G) | |
17 | g.42911386_42911387delinsGA | CA2695226089 | G6PC1 | c.1034_1035delinsGA (p.Leu345Arg) c.*426_*427delinsGA (n.*426_*427delinsGA) | |
17 | g.42911387C>A | CA500229495 | G6PC1 | c.1035C>A (p.Leu345=) c.*427C>A (n.*427C>A) | ClinVar |
17 | g.42911387C= | CA2260697516 | G6PC1 | c.1035C= (p.Leu345=) c.*427C= (n.*427C=) | |
17 | g.42911387C>G | CA500229496 | G6PC1 | c.1035C>G (p.Leu345=) c.*427C>G (n.*427C>G) | |
17 | g.42911387C>T | CA8587701 | G6PC1 | c.1035C>T (p.Leu345=) c.*427C>T (n.*427C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911388G>A | CA399657754 | G6PC1 | c.1036G>A (p.Ala346Thr) c.*428G>A (n.*428G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911388G>C | CA399657757 | G6PC1 | c.1036G>C (p.Ala346Pro) c.*428G>C (n.*428G>C) | |
17 | g.42911388G= | CA2260697517 | G6PC1 | c.1036G= (p.Ala346=) c.*428G= (n.*428G=) | |
17 | g.42911388G>T | CA399657750 | G6PC1 | c.1036G>T (p.Ala346Ser) c.*428G>T (n.*428G>T) | |
17 | g.42911389C>A | CA399657760 | G6PC1 | c.1037C>A (p.Ala346Asp) c.*429C>A (n.*429C>A) | |
17 | g.42911389C>G | CA399657765 | G6PC1 | c.1037C>G (p.Ala346Gly) c.*429C>G (n.*429C>G) | |
17 | g.42911389C>T | CA399657763 | G6PC1 | c.1037C>T (p.Ala346Val) c.*429C>T (n.*429C>T) | ClinVar |
17 | g.42911390C>A | CA500229500 | G6PC1 | c.1038C>A (p.Ala346=) c.*430C>A (n.*430C>A) | |
17 | g.42911390C= | CA2260697518 | G6PC1 | c.1038C= (p.Ala346=) c.*430C= (n.*430C=) | |
17 | g.42911390C>G | CA500229502 | G6PC1 | c.1038C>G (p.Ala346=) c.*430C>G (n.*430C>G) | |
17 | g.42911390C>T | CA8587702 | G6PC1 | c.1038C>T (p.Ala346=) c.*430C>T (n.*430C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911391C>A | CA399657774 | G6PC1 | c.1039C>A (p.Gln347Lys) c.*431C>A (n.*431C>A) | |
17 | g.42911391C= | CA2260697519 | G6PC1 | c.1039C= (p.Gln347=) c.*431C= (n.*431C=) | |
17 | g.42911391C>G | CA8587703 | G6PC1 | c.1039C>G (p.Gln347Glu) c.*431C>G (n.*431C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911391C>T | CA256179 | G6PC1 | c.1039C>T (p.Gln347Ter) c.*431C>T (n.*431C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911392A= | CA2260697520 | G6PC1 | c.1040A= (p.Gln347=) c.*432A= (n.*432A=) | |
17 | g.42911392A>C | CA399657780 | G6PC1 | c.1040A>C (p.Gln347Pro) c.*432A>C (n.*432A>C) | |
17 | g.42911392A>G | CA399657783 | G6PC1 | c.1040A>G (p.Gln347Arg) c.*432A>G (n.*432A>G) | dbSNP gnomAD v2 |
17 | g.42911392A>T | CA399657786 | G6PC1 | c.1040A>T (p.Gln347Leu) c.*432A>T (n.*432A>T) | |
17 | g.42911393G>A | CA500229506 | G6PC1 | c.1041G>A (p.Gln347=) c.*433G>A (n.*433G>A) | |
17 | g.42911393G>C | CA399657789 | G6PC1 | c.1041G>C (p.Gln347His) c.*433G>C (n.*433G>C) | |
17 | g.42911393G>T | CA399657791 | G6PC1 | c.1041G>T (p.Gln347His) c.*433G>T (n.*433G>T) | |
17 | g.42911394del | CA2739267554 | G6PC1 | c.1042del (p.Val348SerfsTer19) c.*434del (n.*434del) | ClinVar |
17 | g.42911394G>A | CA399657793 | G6PC1 | c.1042G>A (p.Val348Ile) c.*434G>A (n.*434G>A) | |
17 | g.42911394G>C | CA399657794 | G6PC1 | c.1042G>C (p.Val348Leu) c.*434G>C (n.*434G>C) | |
17 | g.42911394G>T | CA399657796 | G6PC1 | c.1042G>T (p.Val348Phe) c.*434G>T (n.*434G>T) | |
17 | g.42911395T>A | CA399657800 | G6PC1 | c.1043T>A (p.Val348Asp) c.*435T>A (n.*435T>A) | |
17 | g.42911395T>C | CA399657804 | G6PC1 | c.1043T>C (p.Val348Ala) c.*435T>C (n.*435T>C) | |
17 | g.42911395T>G | CA399657814 | G6PC1 | c.1043T>G (p.Val348Gly) c.*435T>G (n.*435T>G) | |
17 | g.42911396C>A | CA500229513 | G6PC1 | c.1044C>A (p.Val348=) c.*436C>A (n.*436C>A) | |
17 | g.42911396C= | CA2260697521 | G6PC1 | c.1044C= (p.Val348=) c.*436C= (n.*436C=) | |
17 | g.42911396C>G | CA290790228 | G6PC1 | c.1044C>G (p.Val348=) c.*436C>G (n.*436C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911396C>T | CA500229512 | G6PC1 | c.1044C>T (p.Val348=) c.*436C>T (n.*436C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911397C>A | CA399657817 | G6PC1 | c.1045C>A (p.Leu349Met) c.*437C>A (n.*437C>A) | |
17 | g.42911397C= | CA2260697522 | G6PC1 | c.1045C= (p.Leu349=) c.*437C= (n.*437C=) | |
17 | g.42911397C>G | CA399657820 | G6PC1 | c.1045C>G (p.Leu349Val) c.*437C>G (n.*437C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911397C>T | CA500229514 | G6PC1 | c.1045C>T (p.Leu349=) c.*437C>T (n.*437C>T) | |
17 | g.42911398T>A | CA399657839 | G6PC1 | c.1046T>A (p.Leu349Gln) c.*438T>A (n.*438T>A) | |
17 | g.42911398T>C | CA399657823 | G6PC1 | c.1046T>C (p.Leu349Pro) c.*438T>C (n.*438T>C) | |
17 | g.42911398T>G | CA399657826 | G6PC1 | c.1046T>G (p.Leu349Arg) c.*438T>G (n.*438T>G) | dbSNP |
17 | g.42911398T= | CA2260697523 | G6PC1 | c.1046T= (p.Leu349=) c.*438T= (n.*438T=) | |
17 | g.42911399G>A | CA500229517 | G6PC1 | c.1047G>A (p.Leu349=) c.*439G>A (n.*439G>A) | |
17 | g.42911399G>C | CA500229519 | G6PC1 | c.1047G>C (p.Leu349=) c.*439G>C (n.*439G>C) | |
17 | g.42911399G= | CA2260697524 | G6PC1 | c.1047G= (p.Leu349=) c.*439G= (n.*439G=) | |
17 | g.42911399G>T | CA500229521 | G6PC1 | c.1047G>T (p.Leu349=) c.*439G>T (n.*439G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911400G>A | CA399657842 | G6PC1 | c.1048G>A (p.Gly350Ser) c.*440G>A (n.*440G>A) | |
17 | g.42911400G>C | CA399657845 | G6PC1 | c.1048G>C (p.Gly350Arg) c.*440G>C (n.*440G>C) | |
17 | g.42911400G>T | CA399657847 | G6PC1 | c.1048G>T (p.Gly350Cys) c.*440G>T (n.*440G>T) | |
17 | g.42911401G>A | CA399657850 | G6PC1 | c.1049G>A (p.Gly350Asp) c.*441G>A (n.*441G>A) | |
17 | g.42911401G>C | CA399657852 | G6PC1 | c.1049G>C (p.Gly350Ala) c.*441G>C (n.*441G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911401G= | CA2260697525 | G6PC1 | c.1049G= (p.Gly350=) c.*441G= (n.*441G=) | |
17 | g.42911401G>T | CA399657854 | G6PC1 | c.1049G>T (p.Gly350Val) c.*441G>T (n.*441G>T) | |
17 | g.42911402C>A | CA500229524 | G6PC1 | c.1050C>A (p.Gly350=) c.*442C>A (n.*442C>A) | ClinVar dbSNP |
17 | g.42911402C>G | CA500229525 | G6PC1 | c.1050C>G (p.Gly350=) c.*442C>G (n.*442C>G) | |
17 | g.42911402C>T | CA500229526 | G6PC1 | c.1050C>T (p.Gly350=) c.*442C>T (n.*442C>T) | |
17 | g.42911403C>A | CA399657858 | G6PC1 | c.1051C>A (p.Gln351Lys) c.*443C>A (n.*443C>A) | |
17 | g.42911403C= | CA2260697526 | G6PC1 | c.1051C= (p.Gln351=) c.*443C= (n.*443C=) | |
17 | g.42911403C>G | CA399657870 | G6PC1 | c.1051C>G (p.Gln351Glu) c.*443C>G (n.*443C>G) | |
17 | g.42911403C>T | CA290790232 | G6PC1 | c.1051C>T (p.Gln351Ter) c.*443C>T (n.*443C>T) | ClinVar dbSNP gnomAD v4 |
17 | g.42911404A>C | CA399657877 | G6PC1 | c.1052A>C (p.Gln351Pro) c.*444A>C (n.*444A>C) | |
17 | g.42911404A>G | CA399657883 | G6PC1 | c.1052A>G (p.Gln351Arg) c.*444A>G (n.*444A>G) | |
17 | g.42911404A>T | CA399657885 | G6PC1 | c.1052A>T (p.Gln351Leu) c.*444A>T (n.*444A>T) | |
17 | g.42911405G>A | CA500229530 | G6PC1 | c.1053G>A (p.Gln351=) c.*445G>A (n.*445G>A) | dbSNP |
17 | g.42911405G>C | CA399657890 | G6PC1 | c.1053G>C (p.Gln351His) c.*445G>C (n.*445G>C) | |
17 | g.42911405G= | CA2260697527 | G6PC1 | c.1053G= (p.Gln351=) c.*445G= (n.*445G=) | |
17 | g.42911405G>T | CA399657887 | G6PC1 | c.1053G>T (p.Gln351His) c.*445G>T (n.*445G>T) | |
17 | g.42911406C>A | CA399657895 | G6PC1 | c.1054C>A (p.Pro352Thr) c.*446C>A (n.*446C>A) | |
17 | g.42911406C>G | CA399657896 | G6PC1 | c.1054C>G (p.Pro352Ala) c.*446C>G (n.*446C>G) | |
17 | g.42911406C>T | CA399657897 | G6PC1 | c.1054C>T (p.Pro352Ser) c.*446C>T (n.*446C>T) | |
17 | g.42911407C>A | CA399657900 | G6PC1 | c.1055C>A (p.Pro352Gln) c.*447C>A (n.*447C>A) | |
17 | g.42911407C= | CA2260697528 | G6PC1 | c.1055C= (p.Pro352=) c.*447C= (n.*447C=) | |
17 | g.42911407C>G | CA399657904 | G6PC1 | c.1055C>G (p.Pro352Arg) c.*447C>G (n.*447C>G) | |
17 | g.42911407C>T | CA8587704 | G6PC1 | c.1055C>T (p.Pro352Leu) c.*447C>T (n.*447C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911408G>A | CA8587705 | G6PC1 | c.1056G>A (p.Pro352=) c.*448G>A (n.*448G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911408G>C | CA500229536 | G6PC1 | c.1056G>C (p.Pro352=) c.*448G>C (n.*448G>C) | ClinVar |
17 | g.42911408G= | CA2260697529 | G6PC1 | c.1056G= (p.Pro352=) c.*448G= (n.*448G=) | |
17 | g.42911408G>T | CA500229538 | G6PC1 | c.1056G>T (p.Pro352=) c.*448G>T (n.*448G>T) | ClinVar |
17 | g.42911409C>A | CA399657921 | G6PC1 | c.1057C>A (p.His353Asn) c.*449C>A (n.*449C>A) | |
17 | g.42911409C>G | CA399657913 | G6PC1 | c.1057C>G (p.His353Asp) c.*449C>G (n.*449C>G) | |
17 | g.42911409C>T | CA399657918 | G6PC1 | c.1057C>T (p.His353Tyr) c.*449C>T (n.*449C>T) | |
17 | g.42911410A= | CA2260697530 | G6PC1 | c.1058A= (p.His353=) c.*450A= (n.*450A=) | |
17 | g.42911410A>C | CA290790246 | G6PC1 | c.1058A>C (p.His353Pro) c.*450A>C (n.*450A>C) | dbSNP |
17 | g.42911410A>G | CA399657923 | G6PC1 | c.1058A>G (p.His353Arg) c.*450A>G (n.*450A>G) | |
17 | g.42911410A>T | CA399657924 | G6PC1 | c.1058A>T (p.His353Leu) c.*450A>T (n.*450A>T) | |
17 | g.42911411C>A | CA399657925 | G6PC1 | c.1059C>A (p.His353Gln) c.*451C>A (n.*451C>A) | |
17 | g.42911411C= | CA2260697531 | G6PC1 | c.1059C= (p.His353=) c.*451C= (n.*451C=) | |
17 | g.42911411C>G | CA8587706 | G6PC1 | c.1059C>G (p.His353Gln) c.*451C>G (n.*451C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911411C>T | CA500229548 | G6PC1 | c.1059C>T (p.His353=) c.*451C>T (n.*451C>T) | |
17 | g.42911412A>C | CA399657928 | G6PC1 | c.1060A>C (p.Lys354Gln) c.*452A>C (n.*452A>C) | |
17 | g.42911412A>G | CA399657932 | G6PC1 | c.1060A>G (p.Lys354Glu) c.*452A>G (n.*452A>G) | |
17 | g.42911412A>T | CA399657930 | G6PC1 | c.1060A>T (p.Lys354Ter) c.*452A>T (n.*452A>T) | |
17 | g.42911413A= | CA2260697532 | G6PC1 | c.1061A= (p.Lys354=) c.*453A= (n.*453A=) | |
17 | g.42911413A>C | CA399657933 | G6PC1 | c.1061A>C (p.Lys354Thr) c.*453A>C (n.*453A>C) | |
17 | g.42911413A>G | CA399657935 | G6PC1 | c.1061A>G (p.Lys354Arg) c.*453A>G (n.*453A>G) | dbSNP gnomAD v4 |
17 | g.42911413A>T | CA399657937 | G6PC1 | c.1061A>T (p.Lys354Met) c.*453A>T (n.*453A>T) | |
17 | g.42911414G>A | CA500229551 | G6PC1 | c.1062G>A (p.Lys354=) c.*454G>A (n.*454G>A) | COSMIC |
17 | g.42911414G>C | CA399657938 | G6PC1 | c.1062G>C (p.Lys354Asn) c.*454G>C (n.*454G>C) | |
17 | g.42911414G>T | CA399657939 | G6PC1 | c.1062G>T (p.Lys354Asn) c.*454G>T (n.*454G>T) | COSMIC |
17 | g.42911415A= | CA2260697533 | G6PC1 | c.1063A= (p.Lys355=) c.*455A= (n.*455A=) | |
17 | g.42911415A>C | CA399657940 | G6PC1 | c.1063A>C (p.Lys355Gln) c.*455A>C (n.*455A>C) | |
17 | g.42911415A>G | CA8587707 | G6PC1 | c.1063A>G (p.Lys355Glu) c.*455A>G (n.*455A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911415A>T | CA399657942 | G6PC1 | c.1063A>T (p.Lys355Ter) c.*455A>T (n.*455A>T) | |
17 | g.42911416A= | CA2260697534 | G6PC1 | c.1064A= (p.Lys355=) c.*456A= (n.*456A=) | |
17 | g.42911416A>C | CA399657944 | G6PC1 | c.1064A>C (p.Lys355Thr) c.*456A>C (n.*456A>C) | |
17 | g.42911416A>G | CA8587708 | G6PC1 | c.1064A>G (p.Lys355Arg) c.*456A>G (n.*456A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911416A>T | CA399657947 | G6PC1 | c.1064A>T (p.Lys355Met) c.*456A>T (n.*456A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911417G>A | CA8587709 | G6PC1 | c.1065G>A (p.Lys355=) c.*457G>A (n.*457G>A) | dbSNP ExAC gnomAD v2 |
17 | g.42911417G>C | CA399657950 | G6PC1 | c.1065G>C (p.Lys355Asn) c.*457G>C (n.*457G>C) | |
17 | g.42911417G= | CA2260697535 | G6PC1 | c.1065G= (p.Lys355=) c.*457G= (n.*457G=) | |
17 | g.42911417G>T | CA8587710 | G6PC1 | c.1065G>T (p.Lys355Asn) c.*457G>T (n.*457G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911419_42911421del | CA2638041781 | G6PC1 | c.1067_1069del (p.Ser356del) c.*459_*461del (n.*459_*461del) | gnomAD v4 |
17 | g.42911418T>A | CA399657952 | G6PC1 | c.1066T>A (p.Ser356Thr) c.*458T>A (n.*458T>A) | |
17 | g.42911418T>C | CA399657955 | G6PC1 | c.1066T>C (p.Ser356Pro) c.*458T>C (n.*458T>C) | ClinVar |
17 | g.42911418T>G | CA399657953 | G6PC1 | c.1066T>G (p.Ser356Ala) c.*458T>G (n.*458T>G) | |
17 | g.42911419C>A | CA399657957 | G6PC1 | c.1067C>A (p.Ser356Ter) c.*459C>A (n.*459C>A) | ClinVar dbSNP gnomAD v4 |
17 | g.42911419C= | CA2260697538 | G6PC1 | c.1067C= (p.Ser356=) c.*459C= (n.*459C=) | |
17 | g.42911419C>G | CA399657958 | G6PC1 | c.1067C>G (p.Ser356Trp) c.*459C>G (n.*459C>G) | |
17 | g.42911419C>T | CA399657959 | G6PC1 | c.1067C>T (p.Ser356Leu) c.*459C>T (n.*459C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42911419_42911420delinsCG | CA2260697536 | G6PC1 | c.1067_1068delinsCG (p.Ser356=) c.*459_*460delinsCG (n.*459_*460delinsCG) | |
17 | g.42911419_42911422delinsCGTT | CA2260697537 | G6PC1 | c.1067_1070delinsCGTT (p.Ser356=) c.*459_*462delinsCGTT (n.*459_*462delinsCGTT) | |
17 | g.42911420del | CA626220916 | G6PC1 | c.1068del (p.Leu357CysfsTer10) c.*460del (n.*460del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911420G>A | CA8587712 | G6PC1 | c.1068G>A (p.Ser356=) c.*460G>A (n.*460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911420G>C | CA500229561 | G6PC1 | c.1068G>C (p.Ser356=) c.*460G>C (n.*460G>C) | gnomAD v4 |
17 | g.42911420G= | CA2260697539 | G6PC1 | c.1068G= (p.Ser356=) c.*460G= (n.*460G=) | |
17 | g.42911420G>T | CA500229562 | G6PC1 | c.1068G>T (p.Ser356=) c.*460G>T (n.*460G>T) | gnomAD v4 |
17 | g.42911422_42911424del | CA8587711 | G6PC1 | c.1070_1072del (p.Leu357Ter) c.*462_*464del (n.*462_*464del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911421T>A | CA399657961 | G6PC1 | c.1069T>A (p.Leu357Met) c.*461T>A (n.*461T>A) | |
17 | g.42911421T>C | CA500229564 | G6PC1 | c.1069T>C (p.Leu357=) c.*461T>C (n.*461T>C) | gnomAD v4 |
17 | g.42911421T>G | CA399657962 | G6PC1 | c.1069T>G (p.Leu357Val) c.*461T>G (n.*461T>G) | |
17 | g.42911422T>A | CA399657963 | G6PC1 | c.1070T>A (p.Leu357Ter) c.*462T>A (n.*462T>A) | |
17 | g.42911422T>C | CA399657964 | G6PC1 | c.1070T>C (p.Leu357Ser) c.*462T>C (n.*462T>C) | gnomAD v4 |
17 | g.42911422T>G | CA399657966 | G6PC1 | c.1070T>G (p.Leu357Trp) c.*462T>G (n.*462T>G) | |
17 | g.42911423G>A | CA500229567 | G6PC1 | c.1071G>A (p.Leu357=) c.*463G>A (n.*463G>A) | |
17 | g.42911423G>C | CA399657968 | G6PC1 | c.1071G>C (p.Leu357Phe) c.*463G>C (n.*463G>C) | COSMIC |
17 | g.42911423G= | CA2260697540 | G6PC1 | c.1071G= (p.Leu357=) c.*463G= (n.*463G=) | |
17 | g.42911423G>T | CA399657969 | G6PC1 | c.1071G>T (p.Leu357Phe) c.*463G>T (n.*463G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911424T>A | CA399657975 | G6PC1 | c.1072T>A (p.Ter358Lys) c.*464T>A (n.*464T>A) | |
17 | g.42911424T>C | CA399657971 | G6PC1 | c.1072T>C (p.Ter358Gln) c.*464T>C (n.*464T>C) | |
17 | g.42911424T>G | CA399657973 | G6PC1 | c.1072T>G (p.Ter358Glu) c.*464T>G (n.*464T>G) | |
17 | g.42911425A>C | CA399657979 | G6PC1 | c.1073A>C (p.Ter358Ser) c.*465A>C (n.*465A>C) | |
17 | g.42911425A>G | CA500229571 | G6PC1 | c.1073A>G (p.Ter358=) c.*465A>G (n.*465A>G) | gnomAD v4 |
17 | g.42911425A>T | CA399657980 | G6PC1 | c.1073A>T (p.Ter358Leu) c.*465A>T (n.*465A>T) | |
17 | g.42911426A>C | CA399657982 | G6PC1 | c.1074A>C (p.Ter358Tyr) c.*466A>C (n.*466A>C) | |
17 | g.42911426A>G | CA500229578 | G6PC1 | c.1074A>G (p.Ter358=) c.*466A>G (n.*466A>G) | |
17 | g.42911426A>T | CA399657983 | G6PC1 | c.1074A>T (p.Ter358Tyr) c.*466A>T (n.*466A>T) | |
17 | g.42911427G>C | CA626220917 | G6PC1 | c.*1G>C (n.*1G>C) c.*467G>C (n.*467G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911427G= | CA2260697541 | G6PC1 | c.*1G= (n.*1G=) c.*467G= (n.*467G=) | |
17 | g.42911427G>T | CA772150999 | G6PC1 | c.*1G>T (n.*1G>T) c.*467G>T (n.*467G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911428A>T | CA2594127724 | G6PC1 | c.*2A>T (n.*2A>T) c.*468A>T (n.*468A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42911429G>A | CA290967 | G6PC1 | c.*3G>A (n.*3G>A) c.*469G>A (n.*469G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911429G= | CA2260697542 | G6PC1 | c.*3G= (n.*3G=) c.*469G= (n.*469G=) | |
17 | g.42911429G>T | CA2260697543 | G6PC1 | c.*3G>T (n.*3G>T) c.*469G>T (n.*469G>T) | dbSNP |
17 | g.42911432G>A | CA2260697545 | G6PC1 | c.*6G>A (n.*6G>A) c.*472G>A (n.*472G>A) | dbSNP gnomAD v4 |
17 | g.42911432G= | CA2260697544 | G6PC1 | c.*6G= (n.*6G=) c.*472G= (n.*472G=) | |
17 | g.42911435G= | CA2260697546 | G6PC1 | c.*9G= (n.*9G=) c.*475G= (n.*475G=) | |
17 | g.42911435G>T | CA8587713 | G6PC1 | c.*9G>T (n.*9G>T) c.*475G>T (n.*475G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911436A= | CA2260697547 | G6PC1 | c.*10A= (n.*10A=) c.*476A= (n.*476A=) | |
17 | g.42911436A>G | CA626220918 | G6PC1 | c.*10A>G (n.*10A>G) c.*476A>G (n.*476A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42911436A>T | CA2638041830 | G6PC1 | c.*10A>T (n.*10A>T) c.*476A>T (n.*476A>T) | gnomAD v4 |
17 | g.42911437G>A | CA8587714 | G6PC1 | c.*11G>A (n.*11G>A) c.*477G>A (n.*477G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42911437G>C | CA2638041836 | G6PC1 | c.*11G>C (n.*11G>C) c.*477G>C (n.*477G>C) | gnomAD v4 |
17 | g.42911437G= | CA2260697548 | G6PC1 | c.*11G= (n.*11G=) c.*477G= (n.*477G=) | |
17 | g.42911437_42911438insA | CA983871873 | G6PC1 | c.*11_*12insA (n.*11_*12insA) c.*477_*478insA (n.*477_*478insA) | gnomAD v3 gnomAD v4 |
17 | g.42911438T>C | CA2576281045 | G6PC1 | c.*12T>C (n.*12T>C) c.*478T>C (n.*478T>C) | |
17 | g.42911439C= | CA2260697549 | G6PC1 | c.*13C= (n.*13C=) c.*479C= (n.*479C=) | |
17 | g.42911439C>G | CA8587715 | G6PC1 | c.*13C>G (n.*13C>G) c.*479C>G (n.*479C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42911439C>T | CA2576281046 | G6PC1 | c.*13C>T (n.*13C>T) c.*479C>T (n.*479C>T) | gnomAD v4 |