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 |
|---|---|---|---|---|---|
| 12 | g.108530084_108530105del | CA2620715763 | SART3 | c.1969+38_1969+59del (n.1969+38_1969+59del) c.1915+38_1915+59del (n.1915+38_1915+59del) c.*1071+38_*1071+59del (n.*1071+38_*1071+59del) c.1807+38_1807+59del (n.1807+38_1807+59del) c.*809+38_*809+59del (n.*809+38_*809+59del) c.1051+38_1051+59del (n.1051+38_1051+59del) | gnomAD v4 |
| 12 | g.108530096C= | CA2061986394 | SART3 | c.1969+46G= (n.1969+46G=) c.1915+46G= (n.1915+46G=) c.*1071+46G= (n.*1071+46G=) c.1807+46G= (n.1807+46G=) c.*809+46G= (n.*809+46G=) c.1051+46G= (n.1051+46G=) | |
| 12 | g.108530096C>G | CA6767969 | SART3 | c.1969+46G>C (n.1969+46G>C) c.1915+46G>C (n.1915+46G>C) c.*1071+46G>C (n.*1071+46G>C) c.1807+46G>C (n.1807+46G>C) c.*809+46G>C (n.*809+46G>C) c.1051+46G>C (n.1051+46G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530096_108530102delinsCTAACTT | CA2061986396 | SART3 | c.1969+40_1969+46delinsAAGTTAG (n.1969+40_1969+46delinsAAGTTAG) c.1915+40_1915+46delinsAAGTTAG (n.1915+40_1915+46delinsAAGTTAG) c.*1071+40_*1071+46delinsAAGTTAG (n.*1071+40_*1071+46delinsAAGTTAG) c.1807+40_1807+46delinsAAGTTAG (n.1807+40_1807+46delinsAAGTTAG) c.*809+40_*809+46delinsAAGTTAG (n.*809+40_*809+46delinsAAGTTAG) c.1051+40_1051+46delinsAAGTTAG (n.1051+40_1051+46delinsAAGTTAG) | |
| 12 | g.108530097T>G | CA6767970 | SART3 | c.1969+45A>C (n.1969+45A>C) c.1915+45A>C (n.1915+45A>C) c.*1071+45A>C (n.*1071+45A>C) c.1807+45A>C (n.1807+45A>C) c.*809+45A>C (n.*809+45A>C) c.1051+45A>C (n.1051+45A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530097T= | CA2061986400 | SART3 | c.1969+45A= (n.1969+45A=) c.1915+45A= (n.1915+45A=) c.*1071+45A= (n.*1071+45A=) c.1807+45A= (n.1807+45A=) c.*809+45A= (n.*809+45A=) c.1051+45A= (n.1051+45A=) | |
| 12 | g.108530100_108530105del | CA243342551 | SART3 | c.1969+40_1969+45del (n.1969+40_1969+45del) c.1915+40_1915+45del (n.1915+40_1915+45del) c.*1071+40_*1071+45del (n.*1071+40_*1071+45del) c.1807+40_1807+45del (n.1807+40_1807+45del) c.*809+40_*809+45del (n.*809+40_*809+45del) c.1051+40_1051+45del (n.1051+40_1051+45del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530099del | CA2620715765 | SART3 | c.1969+44del (n.1969+44del) c.1915+44del (n.1915+44del) c.*1071+44del (n.*1071+44del) c.1807+44del (n.1807+44del) c.*809+44del (n.*809+44del) c.1051+44del (n.1051+44del) | gnomAD v4 |
| 12 | g.108530100C>A | CA607600515 | SART3 | c.1969+42G>T (n.1969+42G>T) c.1915+42G>T (n.1915+42G>T) c.*1071+42G>T (n.*1071+42G>T) c.1807+42G>T (n.1807+42G>T) c.*809+42G>T (n.*809+42G>T) c.1051+42G>T (n.1051+42G>T) | dbSNP gnomAD v2 |
| 12 | g.108530100C= | CA2061986405 | SART3 | c.1969+42G= (n.1969+42G=) c.1915+42G= (n.1915+42G=) c.*1071+42G= (n.*1071+42G=) c.1807+42G= (n.1807+42G=) c.*809+42G= (n.*809+42G=) c.1051+42G= (n.1051+42G=) | |
| 12 | g.108530100C>T | CA2620715766 | SART3 | c.1969+42G>A (n.1969+42G>A) c.1915+42G>A (n.1915+42G>A) c.*1071+42G>A (n.*1071+42G>A) c.1807+42G>A (n.1807+42G>A) c.*809+42G>A (n.*809+42G>A) c.1051+42G>A (n.1051+42G>A) | gnomAD v4 |
| 12 | g.108530103T>C | CA607600516 | SART3 | c.1969+39A>G (n.1969+39A>G) c.1915+39A>G (n.1915+39A>G) c.*1071+39A>G (n.*1071+39A>G) c.1807+39A>G (n.1807+39A>G) c.*809+39A>G (n.*809+39A>G) c.1051+39A>G (n.1051+39A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530103T= | CA2061986406 | SART3 | c.1969+39A= (n.1969+39A=) c.1915+39A= (n.1915+39A=) c.*1071+39A= (n.*1071+39A=) c.1807+39A= (n.1807+39A=) c.*809+39A= (n.*809+39A=) c.1051+39A= (n.1051+39A=) | |
| 12 | g.108530104A= | CA2061986407 | SART3 | c.1969+38T= (n.1969+38T=) c.1915+38T= (n.1915+38T=) c.*1071+38T= (n.*1071+38T=) c.1807+38T= (n.1807+38T=) c.*809+38T= (n.*809+38T=) c.1051+38T= (n.1051+38T=) | |
| 12 | g.108530104A>T | CA6767971 | SART3 | c.1969+38T>A (n.1969+38T>A) c.1915+38T>A (n.1915+38T>A) c.*1071+38T>A (n.*1071+38T>A) c.1807+38T>A (n.1807+38T>A) c.*809+38T>A (n.*809+38T>A) c.1051+38T>A (n.1051+38T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530105A>C | CA2620715767 | SART3 | c.1969+37T>G (n.1969+37T>G) c.1915+37T>G (n.1915+37T>G) c.*1071+37T>G (n.*1071+37T>G) c.1807+37T>G (n.1807+37T>G) c.*809+37T>G (n.*809+37T>G) c.1051+37T>G (n.1051+37T>G) | gnomAD v4 |
| 12 | g.108530108C= | CA2061986409 | SART3 | c.1969+34G= (n.1969+34G=) c.1915+34G= (n.1915+34G=) c.*1071+34G= (n.*1071+34G=) c.1807+34G= (n.1807+34G=) c.*809+34G= (n.*809+34G=) c.1051+34G= (n.1051+34G=) | |
| 12 | g.108530108C>G | CA2575278678 | SART3 | c.1969+34G>C (n.1969+34G>C) c.1915+34G>C (n.1915+34G>C) c.*1071+34G>C (n.*1071+34G>C) c.1807+34G>C (n.1807+34G>C) c.*809+34G>C (n.*809+34G>C) c.1051+34G>C (n.1051+34G>C) | |
| 12 | g.108530108C>T | CA6767972 | SART3 | c.1969+34G>A (n.1969+34G>A) c.1915+34G>A (n.1915+34G>A) c.*1071+34G>A (n.*1071+34G>A) c.1807+34G>A (n.1807+34G>A) c.*809+34G>A (n.*809+34G>A) c.1051+34G>A (n.1051+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530109G>A | CA6767973 | SART3 | c.1969+33C>T (n.1969+33C>T) c.1915+33C>T (n.1915+33C>T) c.*1071+33C>T (n.*1071+33C>T) c.1807+33C>T (n.1807+33C>T) c.*809+33C>T (n.*809+33C>T) c.1051+33C>T (n.1051+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530109G= | CA2061986412 | SART3 | c.1969+33C= (n.1969+33C=) c.1915+33C= (n.1915+33C=) c.*1071+33C= (n.*1071+33C=) c.1807+33C= (n.1807+33C=) c.*809+33C= (n.*809+33C=) c.1051+33C= (n.1051+33C=) | |
| 12 | g.108530109G>T | CA2575278679 | SART3 | c.1969+33C>A (n.1969+33C>A) c.1915+33C>A (n.1915+33C>A) c.*1071+33C>A (n.*1071+33C>A) c.1807+33C>A (n.1807+33C>A) c.*809+33C>A (n.*809+33C>A) c.1051+33C>A (n.1051+33C>A) | gnomAD v4 |
| 12 | g.108530116_108530118delinsAAC | CA2061986415 | SART3 | c.1969+24_1969+26delinsGTT (n.1969+24_1969+26delinsGTT) c.1915+24_1915+26delinsGTT (n.1915+24_1915+26delinsGTT) c.*1071+24_*1071+26delinsGTT (n.*1071+24_*1071+26delinsGTT) c.1807+24_1807+26delinsGTT (n.1807+24_1807+26delinsGTT) c.*809+24_*809+26delinsGTT (n.*809+24_*809+26delinsGTT) c.1051+24_1051+26delinsGTT (n.1051+24_1051+26delinsGTT) | |
| 12 | g.108530120_108530121del | CA2061986417 | SART3 | c.1969+24_1969+25del (n.1969+24_1969+25del) c.1915+24_1915+25del (n.1915+24_1915+25del) c.*1071+24_*1071+25del (n.*1071+24_*1071+25del) c.1807+24_1807+25del (n.1807+24_1807+25del) c.*809+24_*809+25del (n.*809+24_*809+25del) c.1051+24_1051+25del (n.1051+24_1051+25del) | dbSNP gnomAD v4 |
| 12 | g.108530118C>A | CA2602376572 | SART3 | c.1969+24G>T (n.1969+24G>T) c.1915+24G>T (n.1915+24G>T) c.*1071+24G>T (n.*1071+24G>T) c.1807+24G>T (n.1807+24G>T) c.*809+24G>T (n.*809+24G>T) c.1051+24G>T (n.1051+24G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530118C= | CA2061986418 | SART3 | c.1969+24G= (n.1969+24G=) c.1915+24G= (n.1915+24G=) c.*1071+24G= (n.*1071+24G=) c.1807+24G= (n.1807+24G=) c.*809+24G= (n.*809+24G=) c.1051+24G= (n.1051+24G=) | |
| 12 | g.108530118C>T | CA2061986419 | SART3 | c.1969+24G>A (n.1969+24G>A) c.1915+24G>A (n.1915+24G>A) c.*1071+24G>A (n.*1071+24G>A) c.1807+24G>A (n.1807+24G>A) c.*809+24G>A (n.*809+24G>A) c.1051+24G>A (n.1051+24G>A) | dbSNP |
| 12 | g.108530120C= | CA2061986421 | SART3 | c.1969+22G= (n.1969+22G=) c.1915+22G= (n.1915+22G=) c.*1071+22G= (n.*1071+22G=) c.1807+22G= (n.1807+22G=) c.*809+22G= (n.*809+22G=) c.1051+22G= (n.1051+22G=) | |
| 12 | g.108530120C>G | CA2575278680 | SART3 | c.1969+22G>C (n.1969+22G>C) c.1915+22G>C (n.1915+22G>C) c.*1071+22G>C (n.*1071+22G>C) c.1807+22G>C (n.1807+22G>C) c.*809+22G>C (n.*809+22G>C) c.1051+22G>C (n.1051+22G>C) | dbSNP gnomAD v4 |
| 12 | g.108530120C>T | CA607600517 | SART3 | c.1969+22G>A (n.1969+22G>A) c.1915+22G>A (n.1915+22G>A) c.*1071+22G>A (n.*1071+22G>A) c.1807+22G>A (n.1807+22G>A) c.*809+22G>A (n.*809+22G>A) c.1051+22G>A (n.1051+22G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530122A= | CA2061986423 | SART3 | c.1969+20T= (n.1969+20T=) c.1915+20T= (n.1915+20T=) c.*1071+20T= (n.*1071+20T=) c.1807+20T= (n.1807+20T=) c.*809+20T= (n.*809+20T=) c.1051+20T= (n.1051+20T=) | |
| 12 | g.108530122A>G | CA6767974 | SART3 | c.1969+20T>C (n.1969+20T>C) c.1915+20T>C (n.1915+20T>C) c.*1071+20T>C (n.*1071+20T>C) c.1807+20T>C (n.1807+20T>C) c.*809+20T>C (n.*809+20T>C) c.1051+20T>C (n.1051+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530123T>C | CA2620715768 | SART3 | c.1969+19A>G (n.1969+19A>G) c.1915+19A>G (n.1915+19A>G) c.*1071+19A>G (n.*1071+19A>G) c.1807+19A>G (n.1807+19A>G) c.*809+19A>G (n.*809+19A>G) c.1051+19A>G (n.1051+19A>G) | gnomAD v4 |
| 12 | g.108530124T>G | CA2575278681 | SART3 | c.1969+18A>C (n.1969+18A>C) c.1915+18A>C (n.1915+18A>C) c.*1071+18A>C (n.*1071+18A>C) c.1807+18A>C (n.1807+18A>C) c.*809+18A>C (n.*809+18A>C) c.1051+18A>C (n.1051+18A>C) | |
| 12 | g.108530126C>T | CA2620715769 | SART3 | c.1969+16G>A (n.1969+16G>A) c.1915+16G>A (n.1915+16G>A) c.*1071+16G>A (n.*1071+16G>A) c.1807+16G>A (n.1807+16G>A) c.*809+16G>A (n.*809+16G>A) c.1051+16G>A (n.1051+16G>A) | gnomAD v4 |
| 12 | g.108530127T>C | CA2620715770 | SART3 | c.1969+15A>G (n.1969+15A>G) c.1915+15A>G (n.1915+15A>G) c.*1071+15A>G (n.*1071+15A>G) c.1807+15A>G (n.1807+15A>G) c.*809+15A>G (n.*809+15A>G) c.1051+15A>G (n.1051+15A>G) | gnomAD v4 |
| 12 | g.108530128_108530131delinsCAAG | CA2061986426 | SART3 | c.1969+11_1969+14delinsCTTG (n.1969+11_1969+14delinsCTTG) c.1915+11_1915+14delinsCTTG (n.1915+11_1915+14delinsCTTG) c.*1071+11_*1071+14delinsCTTG (n.*1071+11_*1071+14delinsCTTG) c.1807+11_1807+14delinsCTTG (n.1807+11_1807+14delinsCTTG) c.*809+11_*809+14delinsCTTG (n.*809+11_*809+14delinsCTTG) c.1051+11_1051+14delinsCTTG (n.1051+11_1051+14delinsCTTG) | |
| 12 | g.108530130_108530132del | CA683348828 | SART3 | c.1969+11_1969+13del (n.1969+11_1969+13del) c.1915+11_1915+13del (n.1915+11_1915+13del) c.*1071+11_*1071+13del (n.*1071+11_*1071+13del) c.1807+11_1807+13del (n.1807+11_1807+13del) c.*809+11_*809+13del (n.*809+11_*809+13del) c.1051+11_1051+13del (n.1051+11_1051+13del) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530138T>A | CA2575278682 | SART3 | c.1969+4A>T (n.1969+4A>T) c.1915+4A>T (n.1915+4A>T) c.*1071+4A>T (n.*1071+4A>T) c.1807+4A>T (n.1807+4A>T) c.*809+4A>T (n.*809+4A>T) c.1051+4A>T (n.1051+4A>T) | |
| 12 | g.108530138T>G | CA607600518 | SART3 | c.1969+4A>C (n.1969+4A>C) c.1915+4A>C (n.1915+4A>C) c.*1071+4A>C (n.*1071+4A>C) c.1807+4A>C (n.1807+4A>C) c.*809+4A>C (n.*809+4A>C) c.1051+4A>C (n.1051+4A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530138T= | CA2061986429 | SART3 | c.1969+4A= (n.1969+4A=) c.1915+4A= (n.1915+4A=) c.*1071+4A= (n.*1071+4A=) c.1807+4A= (n.1807+4A=) c.*809+4A= (n.*809+4A=) c.1051+4A= (n.1051+4A=) | |
| 12 | g.108530140A>C | CA386436486 | SART3 | c.1969+2T>G (n.1969+2T>G) c.1915+2T>G (n.1915+2T>G) c.*1071+2T>G (n.*1071+2T>G) c.1807+2T>G (n.1807+2T>G) c.*809+2T>G (n.*809+2T>G) c.1051+2T>G (n.1051+2T>G) | |
| 12 | g.108530140A>G | CA386436488 | SART3 | c.1969+2T>C (n.1969+2T>C) c.1915+2T>C (n.1915+2T>C) c.*1071+2T>C (n.*1071+2T>C) c.1807+2T>C (n.1807+2T>C) c.*809+2T>C (n.*809+2T>C) c.1051+2T>C (n.1051+2T>C) | |
| 12 | g.108530140A>T | CA386436489 | SART3 | c.1969+2T>A (n.1969+2T>A) c.1915+2T>A (n.1915+2T>A) c.*1071+2T>A (n.*1071+2T>A) c.1807+2T>A (n.1807+2T>A) c.*809+2T>A (n.*809+2T>A) c.1051+2T>A (n.1051+2T>A) | |
| 12 | g.108530141C>A | CA386436491 | SART3 | c.1969+1G>T (n.1969+1G>T) c.1915+1G>T (n.1915+1G>T) c.*1071+1G>T (n.*1071+1G>T) c.1807+1G>T (n.1807+1G>T) c.*809+1G>T (n.*809+1G>T) c.1051+1G>T (n.1051+1G>T) | |
| 12 | g.108530141C>G | CA386436492 | SART3 | c.1969+1G>C (n.1969+1G>C) c.1915+1G>C (n.1915+1G>C) c.*1071+1G>C (n.*1071+1G>C) c.1807+1G>C (n.1807+1G>C) c.*809+1G>C (n.*809+1G>C) c.1051+1G>C (n.1051+1G>C) | |
| 12 | g.108530141C>T | CA386436494 | SART3 | c.1969+1G>A (n.1969+1G>A) c.1915+1G>A (n.1915+1G>A) c.*1071+1G>A (n.*1071+1G>A) c.1807+1G>A (n.1807+1G>A) c.*809+1G>A (n.*809+1G>A) c.1051+1G>A (n.1051+1G>A) | gnomAD v4 |
| 12 | g.108530141_108530144delinsCCTT | CA2061986431 | SART3 | c.1967_1969+1delinsAAGG c.1913_1915+1delinsAAGG c.*1069_*1071+1delinsAAGG c.1805_1807+1delinsAAGG c.*807_*809+1delinsAAGG c.1049_1051+1delinsAAGG | |
| 12 | g.108530142C>A | CA386436502 | SART3 | c.1969G>T (p.Glu657Ter) c.1915G>T (p.Glu639Ter) c.*1071G>T (n.*1071G>T) c.1807G>T (p.Glu603Ter) c.*809G>T (n.*809G>T) c.1051G>T (p.Glu351Ter) | |
| 12 | g.108530142C= | CA2061986433 | SART3 | c.1969G= (p.Glu657=) c.1915G= (p.Glu639=) c.*1071G= (n.*1071G=) c.1807G= (p.Glu603=) c.*809G= (n.*809G=) c.1051G= (p.Glu351=) | |
| 12 | g.108530142C>G | CA386436498 | SART3 | c.1969G>C (p.Glu657Gln) c.1915G>C (p.Glu639Gln) c.*1071G>C (n.*1071G>C) c.1807G>C (p.Glu603Gln) c.*809G>C (n.*809G>C) c.1051G>C (p.Glu351Gln) | gnomAD v4 |
| 12 | g.108530142C>T | CA6767975 | SART3 | c.1969G>A (p.Glu657Lys) c.1915G>A (p.Glu639Lys) c.*1071G>A (n.*1071G>A) c.1807G>A (p.Glu603Lys) c.*809G>A (n.*809G>A) c.1051G>A (p.Glu351Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530142_108530143delinsCT | CA2061986435 | SART3 | c.1968_1969delinsAG (p.Glu656=) c.1914_1915delinsAG (p.Glu638=) c.*1070_*1071delinsAG (n.*1070_*1071delinsAG) c.1806_1807delinsAG (p.Glu602=) c.*808_*809delinsAG (n.*808_*809delinsAG) c.1050_1051delinsAG (p.Glu350=) | |
| 12 | g.108530146_108530148del | CA607600519 | SART3 | c.1967_1969del (p.Glu657del) c.1913_1915del (p.Glu639del) c.*1069_*1071del (n.*1069_*1071del) c.1805_1807del (p.Glu603del) c.*807_*809del (n.*807_*809del) c.1049_1051del (p.Glu351del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530143T>A | CA386436504 | SART3 | c.1968A>T (p.Glu656Asp) c.1914A>T (p.Glu638Asp) c.*1070A>T (n.*1070A>T) c.1806A>T (p.Glu602Asp) c.*808A>T (n.*808A>T) c.1050A>T (p.Glu350Asp) | |
| 12 | g.108530143T>C | CA481669958 | SART3 | c.1968A>G (p.Glu656=) c.1914A>G (p.Glu638=) c.*1070A>G (n.*1070A>G) c.1806A>G (p.Glu602=) c.*808A>G (n.*808A>G) c.1050A>G (p.Glu350=) | |
| 12 | g.108530143T>G | CA386436506 | SART3 | c.1968A>C (p.Glu656Asp) c.1914A>C (p.Glu638Asp) c.*1070A>C (n.*1070A>C) c.1806A>C (p.Glu602Asp) c.*808A>C (n.*808A>C) c.1050A>C (p.Glu350Asp) | |
| 12 | g.108530144del | CA2061986438 | SART3 | c.1968del (p.Glu657SerfsTer22) c.1914del (p.Glu639SerfsTer22) c.*1070del (n.*1070del) c.1806del (p.Glu603SerfsTer22) c.*808del (n.*808del) c.1050del (p.Glu351SerfsTer22) | dbSNP |
| 12 | g.108530144T>A | CA386436508 | SART3 | c.1967A>T (p.Glu656Val) c.1913A>T (p.Glu638Val) c.*1069A>T (n.*1069A>T) c.1805A>T (p.Glu602Val) c.*807A>T (n.*807A>T) c.1049A>T (p.Glu350Val) | |
| 12 | g.108530144T>C | CA386436510 | SART3 | c.1967A>G (p.Glu656Gly) c.1913A>G (p.Glu638Gly) c.*1069A>G (n.*1069A>G) c.1805A>G (p.Glu602Gly) c.*807A>G (n.*807A>G) c.1049A>G (p.Glu350Gly) | dbSNP gnomAD v4 |
| 12 | g.108530144T>G | CA386436512 | SART3 | c.1967A>C (p.Glu656Ala) c.1913A>C (p.Glu638Ala) c.*1069A>C (n.*1069A>C) c.1805A>C (p.Glu602Ala) c.*807A>C (n.*807A>C) c.1049A>C (p.Glu350Ala) | |
| 12 | g.108530144T= | CA2061986441 | SART3 | c.1967A= (p.Glu656=) c.1913A= (p.Glu638=) c.*1069A= (n.*1069A=) c.1805A= (p.Glu602=) c.*807A= (n.*807A=) c.1049A= (p.Glu350=) | |
| 12 | g.108530145C>A | CA386436515 | SART3 | c.1966G>T (p.Glu656Ter) c.1912G>T (p.Glu638Ter) c.*1068G>T (n.*1068G>T) c.1804G>T (p.Glu602Ter) c.*806G>T (n.*806G>T) c.1048G>T (p.Glu350Ter) | |
| 12 | g.108530145C>G | CA386436517 | SART3 | c.1966G>C (p.Glu656Gln) c.1912G>C (p.Glu638Gln) c.*1068G>C (n.*1068G>C) c.1804G>C (p.Glu602Gln) c.*806G>C (n.*806G>C) c.1048G>C (p.Glu350Gln) | |
| 12 | g.108530145C>T | CA386436520 | SART3 | c.1966G>A (p.Glu656Lys) c.1912G>A (p.Glu638Lys) c.*1068G>A (n.*1068G>A) c.1804G>A (p.Glu602Lys) c.*806G>A (n.*806G>A) c.1048G>A (p.Glu350Lys) | |
| 12 | g.108530146T>A | CA386436523 | SART3 | c.1965A>T (p.Glu655Asp) c.1911A>T (p.Glu637Asp) c.*1067A>T (n.*1067A>T) c.1803A>T (p.Glu601Asp) c.*805A>T (n.*805A>T) c.1047A>T (p.Glu349Asp) | |
| 12 | g.108530146T>C | CA481669967 | SART3 | c.1965A>G (p.Glu655=) c.1911A>G (p.Glu637=) c.*1067A>G (n.*1067A>G) c.1803A>G (p.Glu601=) c.*805A>G (n.*805A>G) c.1047A>G (p.Glu349=) | gnomAD v4 |
| 12 | g.108530146T>G | CA386436525 | SART3 | c.1965A>C (p.Glu655Asp) c.1911A>C (p.Glu637Asp) c.*1067A>C (n.*1067A>C) c.1803A>C (p.Glu601Asp) c.*805A>C (n.*805A>C) c.1047A>C (p.Glu349Asp) | |
| 12 | g.108530147T>A | CA386436528 | SART3 | c.1964A>T (p.Glu655Val) c.1910A>T (p.Glu637Val) c.*1066A>T (n.*1066A>T) c.1802A>T (p.Glu601Val) c.*804A>T (n.*804A>T) c.1046A>T (p.Glu349Val) | |
| 12 | g.108530147T>C | CA386436531 | SART3 | c.1964A>G (p.Glu655Gly) c.1910A>G (p.Glu637Gly) c.*1066A>G (n.*1066A>G) c.1802A>G (p.Glu601Gly) c.*804A>G (n.*804A>G) c.1046A>G (p.Glu349Gly) | |
| 12 | g.108530147T>G | CA386436532 | SART3 | c.1964A>C (p.Glu655Ala) c.1910A>C (p.Glu637Ala) c.*1066A>C (n.*1066A>C) c.1802A>C (p.Glu601Ala) c.*804A>C (n.*804A>C) c.1046A>C (p.Glu349Ala) | |
| 12 | g.108530148C>A | CA386436541 | SART3 | c.1963G>T (p.Glu655Ter) c.1909G>T (p.Glu637Ter) c.*1065G>T (n.*1065G>T) c.1801G>T (p.Glu601Ter) c.*803G>T (n.*803G>T) c.1045G>T (p.Glu349Ter) | |
| 12 | g.108530148C>G | CA386436540 | SART3 | c.1963G>C (p.Glu655Gln) c.1909G>C (p.Glu637Gln) c.*1065G>C (n.*1065G>C) c.1801G>C (p.Glu601Gln) c.*803G>C (n.*803G>C) c.1045G>C (p.Glu349Gln) | |
| 12 | g.108530148C>T | CA386436537 | SART3 | c.1963G>A (p.Glu655Lys) c.1909G>A (p.Glu637Lys) c.*1065G>A (n.*1065G>A) c.1801G>A (p.Glu601Lys) c.*803G>A (n.*803G>A) c.1045G>A (p.Glu349Lys) | |
| 12 | g.108530149A>C | CA386436553 | SART3 | c.1962T>G (p.Asp654Glu) c.1908T>G (p.Asp636Glu) c.*1064T>G (n.*1064T>G) c.1800T>G (p.Asp600Glu) c.*802T>G (n.*802T>G) c.1044T>G (p.Asp348Glu) | |
| 12 | g.108530149A>G | CA481669973 | SART3 | c.1962T>C (p.Asp654=) c.1908T>C (p.Asp636=) c.*1064T>C (n.*1064T>C) c.1800T>C (p.Asp600=) c.*802T>C (n.*802T>C) c.1044T>C (p.Asp348=) | |
| 12 | g.108530149A>T | CA386436544 | SART3 | c.1962T>A (p.Asp654Glu) c.1908T>A (p.Asp636Glu) c.*1064T>A (n.*1064T>A) c.1800T>A (p.Asp600Glu) c.*802T>A (n.*802T>A) c.1044T>A (p.Asp348Glu) | |
| 12 | g.108530150T>A | CA386436562 | SART3 | c.1961A>T (p.Asp654Val) c.1907A>T (p.Asp636Val) c.*1063A>T (n.*1063A>T) c.1799A>T (p.Asp600Val) c.*801A>T (n.*801A>T) c.1043A>T (p.Asp348Val) | |
| 12 | g.108530150T>C | CA386436556 | SART3 | c.1961A>G (p.Asp654Gly) c.1907A>G (p.Asp636Gly) c.*1063A>G (n.*1063A>G) c.1799A>G (p.Asp600Gly) c.*801A>G (n.*801A>G) c.1043A>G (p.Asp348Gly) | |
| 12 | g.108530150T>G | CA386436559 | SART3 | c.1961A>C (p.Asp654Ala) c.1907A>C (p.Asp636Ala) c.*1063A>C (n.*1063A>C) c.1799A>C (p.Asp600Ala) c.*801A>C (n.*801A>C) c.1043A>C (p.Asp348Ala) | gnomAD v4 |
| 12 | g.108530151C>A | CA386436565 | SART3 | c.1960G>T (p.Asp654Tyr) c.1906G>T (p.Asp636Tyr) c.*1062G>T (n.*1062G>T) c.1798G>T (p.Asp600Tyr) c.*800G>T (n.*800G>T) c.1042G>T (p.Asp348Tyr) | |
| 12 | g.108530151C>G | CA386436567 | SART3 | c.1960G>C (p.Asp654His) c.1906G>C (p.Asp636His) c.*1062G>C (n.*1062G>C) c.1798G>C (p.Asp600His) c.*800G>C (n.*800G>C) c.1042G>C (p.Asp348His) | gnomAD v4 |
| 12 | g.108530151C>T | CA386436570 | SART3 | c.1960G>A (p.Asp654Asn) c.1906G>A (p.Asp636Asn) c.*1062G>A (n.*1062G>A) c.1798G>A (p.Asp600Asn) c.*800G>A (n.*800G>A) c.1042G>A (p.Asp348Asn) | |
| 12 | g.108530152A= | CA2061986443 | SART3 | c.1959T= (p.Asp653=) c.1905T= (p.Asp635=) c.*1061T= (n.*1061T=) c.1797T= (p.Asp599=) c.*799T= (n.*799T=) c.1041T= (p.Asp347=) | |
| 12 | g.108530152A>C | CA386436573 | SART3 | c.1959T>G (p.Asp653Glu) c.1905T>G (p.Asp635Glu) c.*1061T>G (n.*1061T>G) c.1797T>G (p.Asp599Glu) c.*799T>G (n.*799T>G) c.1041T>G (p.Asp347Glu) | |
| 12 | g.108530152A>G | CA481669983 | SART3 | c.1959T>C (p.Asp653=) c.1905T>C (p.Asp635=) c.*1061T>C (n.*1061T>C) c.1797T>C (p.Asp599=) c.*799T>C (n.*799T>C) c.1041T>C (p.Asp347=) | dbSNP gnomAD v4 |
| 12 | g.108530152A>T | CA386436577 | SART3 | c.1959T>A (p.Asp653Glu) c.1905T>A (p.Asp635Glu) c.*1061T>A (n.*1061T>A) c.1797T>A (p.Asp599Glu) c.*799T>A (n.*799T>A) c.1041T>A (p.Asp347Glu) | |
| 12 | g.108530153T>A | CA386436580 | SART3 | c.1958A>T (p.Asp653Val) c.1904A>T (p.Asp635Val) c.*1060A>T (n.*1060A>T) c.1796A>T (p.Asp599Val) c.*798A>T (n.*798A>T) c.1040A>T (p.Asp347Val) | |
| 12 | g.108530153T>C | CA386436582 | SART3 | c.1958A>G (p.Asp653Gly) c.1904A>G (p.Asp635Gly) c.*1060A>G (n.*1060A>G) c.1796A>G (p.Asp599Gly) c.*798A>G (n.*798A>G) c.1040A>G (p.Asp347Gly) | gnomAD v4 |
| 12 | g.108530153T>G | CA386436584 | SART3 | c.1958A>C (p.Asp653Ala) c.1904A>C (p.Asp635Ala) c.*1060A>C (n.*1060A>C) c.1796A>C (p.Asp599Ala) c.*798A>C (n.*798A>C) c.1040A>C (p.Asp347Ala) | |
| 12 | g.108530154C>A | CA386436586 | SART3 | c.1957G>T (p.Asp653Tyr) c.1903G>T (p.Asp635Tyr) c.*1059G>T (n.*1059G>T) c.1795G>T (p.Asp599Tyr) c.*797G>T (n.*797G>T) c.1039G>T (p.Asp347Tyr) | dbSNP gnomAD v4 |
| 12 | g.108530154C= | CA2061986445 | SART3 | c.1957G= (p.Asp653=) c.1903G= (p.Asp635=) c.*1059G= (n.*1059G=) c.1795G= (p.Asp599=) c.*797G= (n.*797G=) c.1039G= (p.Asp347=) | |
| 12 | g.108530154C>G | CA386436588 | SART3 | c.1957G>C (p.Asp653His) c.1903G>C (p.Asp635His) c.*1059G>C (n.*1059G>C) c.1795G>C (p.Asp599His) c.*797G>C (n.*797G>C) c.1039G>C (p.Asp347His) | |
| 12 | g.108530154C>T | CA386436591 | SART3 | c.1957G>A (p.Asp653Asn) c.1903G>A (p.Asp635Asn) c.*1059G>A (n.*1059G>A) c.1795G>A (p.Asp599Asn) c.*797G>A (n.*797G>A) c.1039G>A (p.Asp347Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530155G>A | CA6767976 | SART3 | c.1956C>T (p.Gly652=) c.1902C>T (p.Gly634=) c.*1058C>T (n.*1058C>T) c.1794C>T (p.Gly598=) c.*796C>T (n.*796C>T) c.1038C>T (p.Gly346=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530155G>C | CA481669995 | SART3 | c.1956C>G (p.Gly652=) c.1902C>G (p.Gly634=) c.*1058C>G (n.*1058C>G) c.1794C>G (p.Gly598=) c.*796C>G (n.*796C>G) c.1038C>G (p.Gly346=) | |
| 12 | g.108530155G= | CA2061986449 | SART3 | c.1956C= (p.Gly652=) c.1902C= (p.Gly634=) c.*1058C= (n.*1058C=) c.1794C= (p.Gly598=) c.*796C= (n.*796C=) c.1038C= (p.Gly346=) | |
| 12 | g.108530155G>T | CA481669997 | SART3 | c.1956C>A (p.Gly652=) c.1902C>A (p.Gly634=) c.*1058C>A (n.*1058C>A) c.1794C>A (p.Gly598=) c.*796C>A (n.*796C>A) c.1038C>A (p.Gly346=) | gnomAD v4 |
| 12 | g.108530156C>A | CA386436603 | SART3 | c.1955G>T (p.Gly652Val) c.1901G>T (p.Gly634Val) c.*1057G>T (n.*1057G>T) c.1793G>T (p.Gly598Val) c.*795G>T (n.*795G>T) c.1037G>T (p.Gly346Val) | |
| 12 | g.108530156C>G | CA386436600 | SART3 | c.1955G>C (p.Gly652Ala) c.1901G>C (p.Gly634Ala) c.*1057G>C (n.*1057G>C) c.1793G>C (p.Gly598Ala) c.*795G>C (n.*795G>C) c.1037G>C (p.Gly346Ala) | |
| 12 | g.108530156C>T | CA386436597 | SART3 | c.1955G>A (p.Gly652Asp) c.1901G>A (p.Gly634Asp) c.*1057G>A (n.*1057G>A) c.1793G>A (p.Gly598Asp) c.*795G>A (n.*795G>A) c.1037G>A (p.Gly346Asp) | gnomAD v4 |
| 12 | g.108530157C>A | CA386436606 | SART3 | c.1954G>T (p.Gly652Cys) c.1900G>T (p.Gly634Cys) c.*1056G>T (n.*1056G>T) c.1792G>T (p.Gly598Cys) c.*794G>T (n.*794G>T) c.1036G>T (p.Gly346Cys) | |
| 12 | g.108530157C>G | CA386436609 | SART3 | c.1954G>C (p.Gly652Arg) c.1900G>C (p.Gly634Arg) c.*1056G>C (n.*1056G>C) c.1792G>C (p.Gly598Arg) c.*794G>C (n.*794G>C) c.1036G>C (p.Gly346Arg) | |
| 12 | g.108530157C>T | CA386436611 | SART3 | c.1954G>A (p.Gly652Ser) c.1900G>A (p.Gly634Ser) c.*1056G>A (n.*1056G>A) c.1792G>A (p.Gly598Ser) c.*794G>A (n.*794G>A) c.1036G>A (p.Gly346Ser) | |
| 12 | g.108530158C>A | CA386436614 | SART3 | c.1953G>T (p.Trp651Cys) c.1899G>T (p.Trp633Cys) c.*1055G>T (n.*1055G>T) c.1791G>T (p.Trp597Cys) c.*793G>T (n.*793G>T) c.1035G>T (p.Trp345Cys) | |
| 12 | g.108530158C>G | CA386436617 | SART3 | c.1953G>C (p.Trp651Cys) c.1899G>C (p.Trp633Cys) c.*1055G>C (n.*1055G>C) c.1791G>C (p.Trp597Cys) c.*793G>C (n.*793G>C) c.1035G>C (p.Trp345Cys) | |
| 12 | g.108530158C>T | CA386436619 | SART3 | c.1953G>A (p.Trp651Ter) c.1899G>A (p.Trp633Ter) c.*1055G>A (n.*1055G>A) c.1791G>A (p.Trp597Ter) c.*793G>A (n.*793G>A) c.1035G>A (p.Trp345Ter) | |
| 12 | g.108530159C>A | CA386436623 | SART3 | c.1952G>T (p.Trp651Leu) c.1898G>T (p.Trp633Leu) c.*1054G>T (n.*1054G>T) c.1790G>T (p.Trp597Leu) c.*792G>T (n.*792G>T) c.1034G>T (p.Trp345Leu) | |
| 12 | g.108530159C= | CA2061986454 | SART3 | c.1952G= (p.Trp651=) c.1898G= (p.Trp633=) c.*1054G= (n.*1054G=) c.1790G= (p.Trp597=) c.*792G= (n.*792G=) c.1034G= (p.Trp345=) | |
| 12 | g.108530159C>G | CA386436626 | SART3 | c.1952G>C (p.Trp651Ser) c.1898G>C (p.Trp633Ser) c.*1054G>C (n.*1054G>C) c.1790G>C (p.Trp597Ser) c.*792G>C (n.*792G>C) c.1034G>C (p.Trp345Ser) | |
| 12 | g.108530159C>T | CA386436629 | SART3 | c.1952G>A (p.Trp651Ter) c.1898G>A (p.Trp633Ter) c.*1054G>A (n.*1054G>A) c.1790G>A (p.Trp597Ter) c.*792G>A (n.*792G>A) c.1034G>A (p.Trp345Ter) | dbSNP |
| 12 | g.108530160A>C | CA386436633 | SART3 | c.1951T>G (p.Trp651Gly) c.1897T>G (p.Trp633Gly) c.*1053T>G (n.*1053T>G) c.1789T>G (p.Trp597Gly) c.*791T>G (n.*791T>G) c.1033T>G (p.Trp345Gly) | gnomAD v4 |
| 12 | g.108530160A>G | CA386436635 | SART3 | c.1951T>C (p.Trp651Arg) c.1897T>C (p.Trp633Arg) c.*1053T>C (n.*1053T>C) c.1789T>C (p.Trp597Arg) c.*791T>C (n.*791T>C) c.1033T>C (p.Trp345Arg) | |
| 12 | g.108530160A>T | CA386436638 | SART3 | c.1951T>A (p.Trp651Arg) c.1897T>A (p.Trp633Arg) c.*1053T>A (n.*1053T>A) c.1789T>A (p.Trp597Arg) c.*791T>A (n.*791T>A) c.1033T>A (p.Trp345Arg) | |
| 12 | g.108530160_108530162delinsACT | CA2061986457 | SART3 | c.1949_1951delinsAGT (p.Glu650=) c.1895_1897delinsAGT (p.Glu632=) c.*1051_*1053delinsAGT (n.*1051_*1053delinsAGT) c.1787_1789delinsAGT (p.Glu596=) c.*789_*791delinsAGT (n.*789_*791delinsAGT) c.1031_1033delinsAGT (p.Glu344=) | |
| 12 | g.108530161C>A | CA6767977 | SART3 | c.1950G>T (p.Glu650Asp) c.1896G>T (p.Glu632Asp) c.*1052G>T (n.*1052G>T) c.1788G>T (p.Glu596Asp) c.*790G>T (n.*790G>T) c.1032G>T (p.Glu344Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530161C= | CA2061986460 | SART3 | c.1950G= (p.Glu650=) c.1896G= (p.Glu632=) c.*1052G= (n.*1052G=) c.1788G= (p.Glu596=) c.*790G= (n.*790G=) c.1032G= (p.Glu344=) | |
| 12 | g.108530161C>G | CA386436644 | SART3 | c.1950G>C (p.Glu650Asp) c.1896G>C (p.Glu632Asp) c.*1052G>C (n.*1052G>C) c.1788G>C (p.Glu596Asp) c.*790G>C (n.*790G>C) c.1032G>C (p.Glu344Asp) | |
| 12 | g.108530161C>T | CA481670019 | SART3 | c.1950G>A (p.Glu650=) c.1896G>A (p.Glu632=) c.*1052G>A (n.*1052G>A) c.1788G>A (p.Glu596=) c.*790G>A (n.*790G>A) c.1032G>A (p.Glu344=) | |
| 12 | g.108530163_108530164del | CA951617075 | SART3 | c.1949_1950del (p.Glu650ValfsTer4) c.1895_1896del (p.Glu632ValfsTer4) c.*1051_*1052del (n.*1051_*1052del) c.1787_1788del (p.Glu596ValfsTer4) c.*789_*790del (n.*789_*790del) c.1031_1032del (p.Glu344ValfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530162_108530169del | CA2620715771 | SART3 | c.1943_1950del (p.Glu648ValfsTer4) c.1889_1896del (p.Glu630ValfsTer4) c.*1045_*1052del (n.*1045_*1052del) c.1781_1788del (p.Glu594ValfsTer4) c.*783_*790del (n.*783_*790del) c.1025_1032del (p.Glu342ValfsTer4) | gnomAD v4 |
| 12 | g.108530162T>A | CA386436650 | SART3 | c.1949A>T (p.Glu650Val) c.1895A>T (p.Glu632Val) c.*1051A>T (n.*1051A>T) c.1787A>T (p.Glu596Val) c.*789A>T (n.*789A>T) c.1031A>T (p.Glu344Val) | |
| 12 | g.108530162T>C | CA386436653 | SART3 | c.1949A>G (p.Glu650Gly) c.1895A>G (p.Glu632Gly) c.*1051A>G (n.*1051A>G) c.1787A>G (p.Glu596Gly) c.*789A>G (n.*789A>G) c.1031A>G (p.Glu344Gly) | |
| 12 | g.108530162T>G | CA386436647 | SART3 | c.1949A>C (p.Glu650Ala) c.1895A>C (p.Glu632Ala) c.*1051A>C (n.*1051A>C) c.1787A>C (p.Glu596Ala) c.*789A>C (n.*789A>C) c.1031A>C (p.Glu344Ala) | |
| 12 | g.108530163C>A | CA386436657 | SART3 | c.1948G>T (p.Glu650Ter) c.1894G>T (p.Glu632Ter) c.*1050G>T (n.*1050G>T) c.1786G>T (p.Glu596Ter) c.*788G>T (n.*788G>T) c.1030G>T (p.Glu344Ter) | |
| 12 | g.108530163C= | CA2061986468 | SART3 | c.1948G= (p.Glu650=) c.1894G= (p.Glu632=) c.*1050G= (n.*1050G=) c.1786G= (p.Glu596=) c.*788G= (n.*788G=) c.1030G= (p.Glu344=) | |
| 12 | g.108530163C>G | CA386436660 | SART3 | c.1948G>C (p.Glu650Gln) c.1894G>C (p.Glu632Gln) c.*1050G>C (n.*1050G>C) c.1786G>C (p.Glu596Gln) c.*788G>C (n.*788G>C) c.1030G>C (p.Glu344Gln) | |
| 12 | g.108530163C>T | CA386436663 | SART3 | c.1948G>A (p.Glu650Lys) c.1894G>A (p.Glu632Lys) c.*1050G>A (n.*1050G>A) c.1786G>A (p.Glu596Lys) c.*788G>A (n.*788G>A) c.1030G>A (p.Glu344Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530163_108530165delinsCTT | CA2061986470 | SART3 | c.1946_1948delinsAAG (p.Lys649=) c.1892_1894delinsAAG (p.Lys631=) c.*1048_*1050delinsAAG (n.*1048_*1050delinsAAG) c.1784_1786delinsAAG (p.Lys595=) c.*786_*788delinsAAG (n.*786_*788delinsAAG) c.1028_1030delinsAAG (p.Lys343=) | |
| 12 | g.108530164T>A | CA386436671 | SART3 | c.1947A>T (p.Lys649Asn) c.1893A>T (p.Lys631Asn) c.*1049A>T (n.*1049A>T) c.1785A>T (p.Lys595Asn) c.*787A>T (n.*787A>T) c.1029A>T (p.Lys343Asn) | |
| 12 | g.108530164T>C | CA6767978 | SART3 | c.1947A>G (p.Lys649=) c.1893A>G (p.Lys631=) c.*1049A>G (n.*1049A>G) c.1785A>G (p.Lys595=) c.*787A>G (n.*787A>G) c.1029A>G (p.Lys343=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530164T>G | CA386436672 | SART3 | c.1947A>C (p.Lys649Asn) c.1893A>C (p.Lys631Asn) c.*1049A>C (n.*1049A>C) c.1785A>C (p.Lys595Asn) c.*787A>C (n.*787A>C) c.1029A>C (p.Lys343Asn) | |
| 12 | g.108530164T= | CA2061986474 | SART3 | c.1947A= (p.Lys649=) c.1893A= (p.Lys631=) c.*1049A= (n.*1049A=) c.1785A= (p.Lys595=) c.*787A= (n.*787A=) c.1029A= (p.Lys343=) | |
| 12 | g.108530165_108530166del | CA2061986476 | SART3 | c.1946_1947del (p.Lys649ArgfsTer5) c.1892_1893del (p.Lys631ArgfsTer5) c.*1048_*1049del (n.*1048_*1049del) c.1784_1785del (p.Lys595ArgfsTer5) c.*786_*787del (n.*786_*787del) c.1028_1029del (p.Lys343ArgfsTer5) | dbSNP |
| 12 | g.108530165T>A | CA386436675 | SART3 | c.1946A>T (p.Lys649Ile) c.1892A>T (p.Lys631Ile) c.*1048A>T (n.*1048A>T) c.1784A>T (p.Lys595Ile) c.*786A>T (n.*786A>T) c.1028A>T (p.Lys343Ile) | |
| 12 | g.108530165T>C | CA386436673 | SART3 | c.1946A>G (p.Lys649Arg) c.1892A>G (p.Lys631Arg) c.*1048A>G (n.*1048A>G) c.1784A>G (p.Lys595Arg) c.*786A>G (n.*786A>G) c.1028A>G (p.Lys343Arg) | gnomAD v4 |
| 12 | g.108530165T>G | CA386436674 | SART3 | c.1946A>C (p.Lys649Thr) c.1892A>C (p.Lys631Thr) c.*1048A>C (n.*1048A>C) c.1784A>C (p.Lys595Thr) c.*786A>C (n.*786A>C) c.1028A>C (p.Lys343Thr) | |
| 12 | g.108530166T>A | CA386436676 | SART3 | c.1945A>T (p.Lys649Ter) c.1891A>T (p.Lys631Ter) c.*1047A>T (n.*1047A>T) c.1783A>T (p.Lys595Ter) c.*785A>T (n.*785A>T) c.1027A>T (p.Lys343Ter) | |
| 12 | g.108530166T>C | CA386436677 | SART3 | c.1945A>G (p.Lys649Glu) c.1891A>G (p.Lys631Glu) c.*1047A>G (n.*1047A>G) c.1783A>G (p.Lys595Glu) c.*785A>G (n.*785A>G) c.1027A>G (p.Lys343Glu) | |
| 12 | g.108530166T>G | CA386436679 | SART3 | c.1945A>C (p.Lys649Gln) c.1891A>C (p.Lys631Gln) c.*1047A>C (n.*1047A>C) c.1783A>C (p.Lys595Gln) c.*785A>C (n.*785A>C) c.1027A>C (p.Lys343Gln) | |
| 12 | g.108530167C>A | CA386436682 | SART3 | c.1944G>T (p.Glu648Asp) c.1890G>T (p.Glu630Asp) c.*1046G>T (n.*1046G>T) c.1782G>T (p.Glu594Asp) c.*784G>T (n.*784G>T) c.1026G>T (p.Glu342Asp) | |
| 12 | g.108530167C>G | CA386436683 | SART3 | c.1944G>C (p.Glu648Asp) c.1890G>C (p.Glu630Asp) c.*1046G>C (n.*1046G>C) c.1782G>C (p.Glu594Asp) c.*784G>C (n.*784G>C) c.1026G>C (p.Glu342Asp) | |
| 12 | g.108530167C>T | CA481670038 | SART3 | c.1944G>A (p.Glu648=) c.1890G>A (p.Glu630=) c.*1046G>A (n.*1046G>A) c.1782G>A (p.Glu594=) c.*784G>A (n.*784G>A) c.1026G>A (p.Glu342=) | gnomAD v4 |
| 12 | g.108530168T>A | CA386436686 | SART3 | c.1943A>T (p.Glu648Val) c.1889A>T (p.Glu630Val) c.*1045A>T (n.*1045A>T) c.1781A>T (p.Glu594Val) c.*783A>T (n.*783A>T) c.1025A>T (p.Glu342Val) | |
| 12 | g.108530168T>C | CA386436691 | SART3 | c.1943A>G (p.Glu648Gly) c.1889A>G (p.Glu630Gly) c.*1045A>G (n.*1045A>G) c.1781A>G (p.Glu594Gly) c.*783A>G (n.*783A>G) c.1025A>G (p.Glu342Gly) | |
| 12 | g.108530168T>G | CA386436689 | SART3 | c.1943A>C (p.Glu648Ala) c.1889A>C (p.Glu630Ala) c.*1045A>C (n.*1045A>C) c.1781A>C (p.Glu594Ala) c.*783A>C (n.*783A>C) c.1025A>C (p.Glu342Ala) | |
| 12 | g.108530169C>A | CA386436694 | SART3 | c.1942G>T (p.Glu648Ter) c.1888G>T (p.Glu630Ter) c.*1044G>T (n.*1044G>T) c.1780G>T (p.Glu594Ter) c.*782G>T (n.*782G>T) c.1024G>T (p.Glu342Ter) | |
| 12 | g.108530169C>G | CA386436696 | SART3 | c.1942G>C (p.Glu648Gln) c.1888G>C (p.Glu630Gln) c.*1044G>C (n.*1044G>C) c.1780G>C (p.Glu594Gln) c.*782G>C (n.*782G>C) c.1024G>C (p.Glu342Gln) | gnomAD v4 |
| 12 | g.108530169C>T | CA386436698 | SART3 | c.1942G>A (p.Glu648Lys) c.1888G>A (p.Glu630Lys) c.*1044G>A (n.*1044G>A) c.1780G>A (p.Glu594Lys) c.*782G>A (n.*782G>A) c.1024G>A (p.Glu342Lys) | |
| 12 | g.108530170A= | CA2061986479 | SART3 | c.1941T= (p.Asp647=) c.1887T= (p.Asp629=) c.*1043T= (n.*1043T=) c.1779T= (p.Asp593=) c.*781T= (n.*781T=) c.1023T= (p.Asp341=) | |
| 12 | g.108530170A>C | CA386436702 | SART3 | c.1941T>G (p.Asp647Glu) c.1887T>G (p.Asp629Glu) c.*1043T>G (n.*1043T>G) c.1779T>G (p.Asp593Glu) c.*781T>G (n.*781T>G) c.1023T>G (p.Asp341Glu) | gnomAD v4 |
| 12 | g.108530170A>G | CA481670046 | SART3 | c.1941T>C (p.Asp647=) c.1887T>C (p.Asp629=) c.*1043T>C (n.*1043T>C) c.1779T>C (p.Asp593=) c.*781T>C (n.*781T>C) c.1023T>C (p.Asp341=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530170A>T | CA386436705 | SART3 | c.1941T>A (p.Asp647Glu) c.1887T>A (p.Asp629Glu) c.*1043T>A (n.*1043T>A) c.1779T>A (p.Asp593Glu) c.*781T>A (n.*781T>A) c.1023T>A (p.Asp341Glu) | |
| 12 | g.108530171T>A | CA386436708 | SART3 | c.1940A>T (p.Asp647Val) c.1886A>T (p.Asp629Val) c.*1042A>T (n.*1042A>T) c.1778A>T (p.Asp593Val) c.*780A>T (n.*780A>T) c.1022A>T (p.Asp341Val) | |
| 12 | g.108530171T>C | CA386436710 | SART3 | c.1940A>G (p.Asp647Gly) c.1886A>G (p.Asp629Gly) c.*1042A>G (n.*1042A>G) c.1778A>G (p.Asp593Gly) c.*780A>G (n.*780A>G) c.1022A>G (p.Asp341Gly) | |
| 12 | g.108530171T>G | CA386436712 | SART3 | c.1940A>C (p.Asp647Ala) c.1886A>C (p.Asp629Ala) c.*1042A>C (n.*1042A>C) c.1778A>C (p.Asp593Ala) c.*780A>C (n.*780A>C) c.1022A>C (p.Asp341Ala) | |
| 12 | g.108530172C>A | CA386436716 | SART3 | c.1939G>T (p.Asp647Tyr) c.1885G>T (p.Asp629Tyr) c.*1041G>T (n.*1041G>T) c.1777G>T (p.Asp593Tyr) c.*779G>T (n.*779G>T) c.1021G>T (p.Asp341Tyr) | |
| 12 | g.108530172C= | CA2061986481 | SART3 | c.1939G= (p.Asp647=) c.1885G= (p.Asp629=) c.*1041G= (n.*1041G=) c.1777G= (p.Asp593=) c.*779G= (n.*779G=) c.1021G= (p.Asp341=) | |
| 12 | g.108530172C>G | CA386436719 | SART3 | c.1939G>C (p.Asp647His) c.1885G>C (p.Asp629His) c.*1041G>C (n.*1041G>C) c.1777G>C (p.Asp593His) c.*779G>C (n.*779G>C) c.1021G>C (p.Asp341His) | |
| 12 | g.108530172C>T | CA6767979 | SART3 | c.1939G>A (p.Asp647Asn) c.1885G>A (p.Asp629Asn) c.*1041G>A (n.*1041G>A) c.1777G>A (p.Asp593Asn) c.*779G>A (n.*779G>A) c.1021G>A (p.Asp341Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530173A= | CA2061986484 | SART3 | c.1938T= (p.Asp646=) c.1884T= (p.Asp628=) c.*1040T= (n.*1040T=) c.1776T= (p.Asp592=) c.*778T= (n.*778T=) c.1020T= (p.Asp340=) | |
| 12 | g.108530173A>C | CA386436723 | SART3 | c.1938T>G (p.Asp646Glu) c.1884T>G (p.Asp628Glu) c.*1040T>G (n.*1040T>G) c.1776T>G (p.Asp592Glu) c.*778T>G (n.*778T>G) c.1020T>G (p.Asp340Glu) | gnomAD v3 gnomAD v4 |
| 12 | g.108530173A>G | CA6767980 | SART3 | c.1938T>C (p.Asp646=) c.1884T>C (p.Asp628=) c.*1040T>C (n.*1040T>C) c.1776T>C (p.Asp592=) c.*778T>C (n.*778T>C) c.1020T>C (p.Asp340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530173A>T | CA386436725 | SART3 | c.1938T>A (p.Asp646Glu) c.1884T>A (p.Asp628Glu) c.*1040T>A (n.*1040T>A) c.1776T>A (p.Asp592Glu) c.*778T>A (n.*778T>A) c.1020T>A (p.Asp340Glu) | dbSNP |
| 12 | g.108530174T>A | CA386436728 | SART3 | c.1937A>T (p.Asp646Val) c.1883A>T (p.Asp628Val) c.*1039A>T (n.*1039A>T) c.1775A>T (p.Asp592Val) c.*777A>T (n.*777A>T) c.1019A>T (p.Asp340Val) | |
| 12 | g.108530174T>C | CA386436733 | SART3 | c.1937A>G (p.Asp646Gly) c.1883A>G (p.Asp628Gly) c.*1039A>G (n.*1039A>G) c.1775A>G (p.Asp592Gly) c.*777A>G (n.*777A>G) c.1019A>G (p.Asp340Gly) | |
| 12 | g.108530174T>G | CA386436731 | SART3 | c.1937A>C (p.Asp646Ala) c.1883A>C (p.Asp628Ala) c.*1039A>C (n.*1039A>C) c.1775A>C (p.Asp592Ala) c.*777A>C (n.*777A>C) c.1019A>C (p.Asp340Ala) | |
| 12 | g.108530175C>A | CA386436736 | SART3 | c.1936G>T (p.Asp646Tyr) c.1882G>T (p.Asp628Tyr) c.*1038G>T (n.*1038G>T) c.1774G>T (p.Asp592Tyr) c.*776G>T (n.*776G>T) c.1018G>T (p.Asp340Tyr) | |
| 12 | g.108530175C= | CA2061986487 | SART3 | c.1936G= (p.Asp646=) c.1882G= (p.Asp628=) c.*1038G= (n.*1038G=) c.1774G= (p.Asp592=) c.*776G= (n.*776G=) c.1018G= (p.Asp340=) | |
| 12 | g.108530175C>G | CA243342614 | SART3 | c.1936G>C (p.Asp646His) c.1882G>C (p.Asp628His) c.*1038G>C (n.*1038G>C) c.1774G>C (p.Asp592His) c.*776G>C (n.*776G>C) c.1018G>C (p.Asp340His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530175C>T | CA386436740 | SART3 | c.1936G>A (p.Asp646Asn) c.1882G>A (p.Asp628Asn) c.*1038G>A (n.*1038G>A) c.1774G>A (p.Asp592Asn) c.*776G>A (n.*776G>A) c.1018G>A (p.Asp340Asn) | |
| 12 | g.108530176C>A | CA386436744 | SART3 | c.1935G>T (p.Glu645Asp) c.1881G>T (p.Glu627Asp) c.*1037G>T (n.*1037G>T) c.1773G>T (p.Glu591Asp) c.*775G>T (n.*775G>T) c.1017G>T (p.Glu339Asp) | |
| 12 | g.108530176C>G | CA386436746 | SART3 | c.1935G>C (p.Glu645Asp) c.1881G>C (p.Glu627Asp) c.*1037G>C (n.*1037G>C) c.1773G>C (p.Glu591Asp) c.*775G>C (n.*775G>C) c.1017G>C (p.Glu339Asp) | |
| 12 | g.108530176C>T | CA481670065 | SART3 | c.1935G>A (p.Glu645=) c.1881G>A (p.Glu627=) c.*1037G>A (n.*1037G>A) c.1773G>A (p.Glu591=) c.*775G>A (n.*775G>A) c.1017G>A (p.Glu339=) | gnomAD v4 |
| 12 | g.108530177T>A | CA386436749 | SART3 | c.1934A>T (p.Glu645Val) c.1880A>T (p.Glu627Val) c.*1036A>T (n.*1036A>T) c.1772A>T (p.Glu591Val) c.*774A>T (n.*774A>T) c.1016A>T (p.Glu339Val) | |
| 12 | g.108530177T>C | CA386436752 | SART3 | c.1934A>G (p.Glu645Gly) c.1880A>G (p.Glu627Gly) c.*1036A>G (n.*1036A>G) c.1772A>G (p.Glu591Gly) c.*774A>G (n.*774A>G) c.1016A>G (p.Glu339Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.108530177T>G | CA386436754 | SART3 | c.1934A>C (p.Glu645Ala) c.1880A>C (p.Glu627Ala) c.*1036A>C (n.*1036A>C) c.1772A>C (p.Glu591Ala) c.*774A>C (n.*774A>C) c.1016A>C (p.Glu339Ala) | |
| 12 | g.108530177T= | CA2061986492 | SART3 | c.1934A= (p.Glu645=) c.1880A= (p.Glu627=) c.*1036A= (n.*1036A=) c.1772A= (p.Glu591=) c.*774A= (n.*774A=) c.1016A= (p.Glu339=) | |
| 12 | g.108530178C>A | CA386436757 | SART3 | c.1933G>T (p.Glu645Ter) c.1879G>T (p.Glu627Ter) c.*1035G>T (n.*1035G>T) c.1771G>T (p.Glu591Ter) c.*773G>T (n.*773G>T) c.1015G>T (p.Glu339Ter) | |
| 12 | g.108530178C= | CA2061986496 | SART3 | c.1933G= (p.Glu645=) c.1879G= (p.Glu627=) c.*1035G= (n.*1035G=) c.1771G= (p.Glu591=) c.*773G= (n.*773G=) c.1015G= (p.Glu339=) | |
| 12 | g.108530178C>G | CA386436759 | SART3 | c.1933G>C (p.Glu645Gln) c.1879G>C (p.Glu627Gln) c.*1035G>C (n.*1035G>C) c.1771G>C (p.Glu591Gln) c.*773G>C (n.*773G>C) c.1015G>C (p.Glu339Gln) | |
| 12 | g.108530178C>T | CA6767981 | SART3 | c.1933G>A (p.Glu645Lys) c.1879G>A (p.Glu627Lys) c.*1035G>A (n.*1035G>A) c.1771G>A (p.Glu591Lys) c.*773G>A (n.*773G>A) c.1015G>A (p.Glu339Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530179A= | CA2061986499 | SART3 | c.1932T= (p.Asp644=) c.1878T= (p.Asp626=) c.*1034T= (n.*1034T=) c.1770T= (p.Asp590=) c.*772T= (n.*772T=) c.1014T= (p.Asp338=) | |
| 12 | g.108530179A>C | CA386436765 | SART3 | c.1932T>G (p.Asp644Glu) c.1878T>G (p.Asp626Glu) c.*1034T>G (n.*1034T>G) c.1770T>G (p.Asp590Glu) c.*772T>G (n.*772T>G) c.1014T>G (p.Asp338Glu) | |
| 12 | g.108530179A>G | CA481670074 | SART3 | c.1932T>C (p.Asp644=) c.1878T>C (p.Asp626=) c.*1034T>C (n.*1034T>C) c.1770T>C (p.Asp590=) c.*772T>C (n.*772T>C) c.1014T>C (p.Asp338=) | gnomAD v4 |
| 12 | g.108530179A>T | CA6767982 | SART3 | c.1932T>A (p.Asp644Glu) c.1878T>A (p.Asp626Glu) c.*1034T>A (n.*1034T>A) c.1770T>A (p.Asp590Glu) c.*772T>A (n.*772T>A) c.1014T>A (p.Asp338Glu) | dbSNP ExAC gnomAD v2 |
| 12 | g.108530180T>A | CA386436770 | SART3 | c.1931A>T (p.Asp644Val) c.1877A>T (p.Asp626Val) c.*1033A>T (n.*1033A>T) c.1769A>T (p.Asp590Val) c.*771A>T (n.*771A>T) c.1013A>T (p.Asp338Val) | |
| 12 | g.108530180T>C | CA386436774 | SART3 | c.1931A>G (p.Asp644Gly) c.1877A>G (p.Asp626Gly) c.*1033A>G (n.*1033A>G) c.1769A>G (p.Asp590Gly) c.*771A>G (n.*771A>G) c.1013A>G (p.Asp338Gly) | |
| 12 | g.108530180T>G | CA386436773 | SART3 | c.1931A>C (p.Asp644Ala) c.1877A>C (p.Asp626Ala) c.*1033A>C (n.*1033A>C) c.1769A>C (p.Asp590Ala) c.*771A>C (n.*771A>C) c.1013A>C (p.Asp338Ala) | |
| 12 | g.108530181C>A | CA386436777 | SART3 | c.1930G>T (p.Asp644Tyr) c.1876G>T (p.Asp626Tyr) c.*1032G>T (n.*1032G>T) c.1768G>T (p.Asp590Tyr) c.*770G>T (n.*770G>T) c.1012G>T (p.Asp338Tyr) | |
| 12 | g.108530181C>G | CA386436779 | SART3 | c.1930G>C (p.Asp644His) c.1876G>C (p.Asp626His) c.*1032G>C (n.*1032G>C) c.1768G>C (p.Asp590His) c.*770G>C (n.*770G>C) c.1012G>C (p.Asp338His) | |
| 12 | g.108530181C>T | CA386436781 | SART3 | c.1930G>A (p.Asp644Asn) c.1876G>A (p.Asp626Asn) c.*1032G>A (n.*1032G>A) c.1768G>A (p.Asp590Asn) c.*770G>A (n.*770G>A) c.1012G>A (p.Asp338Asn) | |
| 12 | g.108530182T>A | CA481670085 | SART3 | c.1929A>T (p.Ala643=) c.1875A>T (p.Ala625=) c.*1031A>T (n.*1031A>T) c.1767A>T (p.Ala589=) c.*769A>T (n.*769A>T) c.1011A>T (p.Ala337=) | |
| 12 | g.108530182T>C | CA481670086 | SART3 | c.1929A>G (p.Ala643=) c.1875A>G (p.Ala625=) c.*1031A>G (n.*1031A>G) c.1767A>G (p.Ala589=) c.*769A>G (n.*769A>G) c.1011A>G (p.Ala337=) | |
| 12 | g.108530182T>G | CA481670087 | SART3 | c.1929A>C (p.Ala643=) c.1875A>C (p.Ala625=) c.*1031A>C (n.*1031A>C) c.1767A>C (p.Ala589=) c.*769A>C (n.*769A>C) c.1011A>C (p.Ala337=) | |
| 12 | g.108530183G>A | CA386436785 | SART3 | c.1928C>T (p.Ala643Val) c.1874C>T (p.Ala625Val) c.*1030C>T (n.*1030C>T) c.1766C>T (p.Ala589Val) c.*768C>T (n.*768C>T) c.1010C>T (p.Ala337Val) | |
| 12 | g.108530183G>C | CA386436787 | SART3 | c.1928C>G (p.Ala643Gly) c.1874C>G (p.Ala625Gly) c.*1030C>G (n.*1030C>G) c.1766C>G (p.Ala589Gly) c.*768C>G (n.*768C>G) c.1010C>G (p.Ala337Gly) | |
| 12 | g.108530183G= | CA2061986502 | SART3 | c.1928C= (p.Ala643=) c.1874C= (p.Ala625=) c.*1030C= (n.*1030C=) c.1766C= (p.Ala589=) c.*768C= (n.*768C=) c.1010C= (p.Ala337=) | |
| 12 | g.108530183G>T | CA386436789 | SART3 | c.1928C>A (p.Ala643Glu) c.1874C>A (p.Ala625Glu) c.*1030C>A (n.*1030C>A) c.1766C>A (p.Ala589Glu) c.*768C>A (n.*768C>A) c.1010C>A (p.Ala337Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530184C>A | CA386436793 | SART3 | c.1927G>T (p.Ala643Ser) c.1873G>T (p.Ala625Ser) c.*1029G>T (n.*1029G>T) c.1765G>T (p.Ala589Ser) c.*767G>T (n.*767G>T) c.1009G>T (p.Ala337Ser) | |
| 12 | g.108530184C= | CA2061986504 | SART3 | c.1927G= (p.Ala643=) c.1873G= (p.Ala625=) c.*1029G= (n.*1029G=) c.1765G= (p.Ala589=) c.*767G= (n.*767G=) c.1009G= (p.Ala337=) | |
| 12 | g.108530184C>G | CA243342646 | SART3 | c.1927G>C (p.Ala643Pro) c.1873G>C (p.Ala625Pro) c.*1029G>C (n.*1029G>C) c.1765G>C (p.Ala589Pro) c.*767G>C (n.*767G>C) c.1009G>C (p.Ala337Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.108530184C>T | CA386436798 | SART3 | c.1927G>A (p.Ala643Thr) c.1873G>A (p.Ala625Thr) c.*1029G>A (n.*1029G>A) c.1765G>A (p.Ala589Thr) c.*767G>A (n.*767G>A) c.1009G>A (p.Ala337Thr) | gnomAD v4 |
| 12 | g.108530185T>A | CA481670096 | SART3 | c.1926A>T (p.Gly642=) c.1872A>T (p.Gly624=) c.*1028A>T (n.*1028A>T) c.1764A>T (p.Gly588=) c.*766A>T (n.*766A>T) c.1008A>T (p.Gly336=) | |
| 12 | g.108530185T>C | CA481670097 | SART3 | c.1926A>G (p.Gly642=) c.1872A>G (p.Gly624=) c.*1028A>G (n.*1028A>G) c.1764A>G (p.Gly588=) c.*766A>G (n.*766A>G) c.1008A>G (p.Gly336=) | |
| 12 | g.108530185T>G | CA481670099 | SART3 | c.1926A>C (p.Gly642=) c.1872A>C (p.Gly624=) c.*1028A>C (n.*1028A>C) c.1764A>C (p.Gly588=) c.*766A>C (n.*766A>C) c.1008A>C (p.Gly336=) | |
| 12 | g.108530186C>A | CA386436808 | SART3 | c.1925G>T (p.Gly642Val) c.1871G>T (p.Gly624Val) c.*1027G>T (n.*1027G>T) c.1763G>T (p.Gly588Val) c.*765G>T (n.*765G>T) c.1007G>T (p.Gly336Val) | |
| 12 | g.108530186C= | CA2061986507 | SART3 | c.1925G= (p.Gly642=) c.1871G= (p.Gly624=) c.*1027G= (n.*1027G=) c.1763G= (p.Gly588=) c.*765G= (n.*765G=) c.1007G= (p.Gly336=) | |
| 12 | g.108530186C>G | CA386436806 | SART3 | c.1925G>C (p.Gly642Ala) c.1871G>C (p.Gly624Ala) c.*1027G>C (n.*1027G>C) c.1763G>C (p.Gly588Ala) c.*765G>C (n.*765G>C) c.1007G>C (p.Gly336Ala) | dbSNP |
| 12 | g.108530186C>T | CA386436802 | SART3 | c.1925G>A (p.Gly642Glu) c.1871G>A (p.Gly624Glu) c.*1027G>A (n.*1027G>A) c.1763G>A (p.Gly588Glu) c.*765G>A (n.*765G>A) c.1007G>A (p.Gly336Glu) | |
| 12 | g.108530187C>A | CA386436812 | SART3 | c.1924G>T (p.Gly642Ter) c.1870G>T (p.Gly624Ter) c.*1026G>T (n.*1026G>T) c.1762G>T (p.Gly588Ter) c.*764G>T (n.*764G>T) c.1006G>T (p.Gly336Ter) | |
| 12 | g.108530187C= | CA2061986510 | SART3 | c.1924G= (p.Gly642=) c.1870G= (p.Gly624=) c.*1026G= (n.*1026G=) c.1762G= (p.Gly588=) c.*764G= (n.*764G=) c.1006G= (p.Gly336=) | |
| 12 | g.108530187C>G | CA386436815 | SART3 | c.1924G>C (p.Gly642Arg) c.1870G>C (p.Gly624Arg) c.*1026G>C (n.*1026G>C) c.1762G>C (p.Gly588Arg) c.*764G>C (n.*764G>C) c.1006G>C (p.Gly336Arg) | |
| 12 | g.108530187C>T | CA6767983 | SART3 | c.1924G>A (p.Gly642Arg) c.1870G>A (p.Gly624Arg) c.*1026G>A (n.*1026G>A) c.1762G>A (p.Gly588Arg) c.*764G>A (n.*764G>A) c.1006G>A (p.Gly336Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530188G>A | CA6767984 | SART3 | c.1923C>T (p.Arg641=) c.1869C>T (p.Arg623=) c.*1025C>T (n.*1025C>T) c.1761C>T (p.Arg587=) c.*763C>T (n.*763C>T) c.1005C>T (p.Arg335=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530188G>C | CA481670108 | SART3 | c.1923C>G (p.Arg641=) c.1869C>G (p.Arg623=) c.*1025C>G (n.*1025C>G) c.1761C>G (p.Arg587=) c.*763C>G (n.*763C>G) c.1005C>G (p.Arg335=) | |
| 12 | g.108530188G= | CA2061986513 | SART3 | c.1923C= (p.Arg641=) c.1869C= (p.Arg623=) c.*1025C= (n.*1025C=) c.1761C= (p.Arg587=) c.*763C= (n.*763C=) c.1005C= (p.Arg335=) | |
| 12 | g.108530188G>T | CA481670111 | SART3 | c.1923C>A (p.Arg641=) c.1869C>A (p.Arg623=) c.*1025C>A (n.*1025C>A) c.1761C>A (p.Arg587=) c.*763C>A (n.*763C>A) c.1005C>A (p.Arg335=) | dbSNP gnomAD v2 |
| 12 | g.108530189C>A | CA386436822 | SART3 | c.1922G>T (p.Arg641Leu) c.1868G>T (p.Arg623Leu) c.*1024G>T (n.*1024G>T) c.1760G>T (p.Arg587Leu) c.*762G>T (n.*762G>T) c.1004G>T (p.Arg335Leu) | |
| 12 | g.108530189C= | CA2061986515 | SART3 | c.1922G= (p.Arg641=) c.1868G= (p.Arg623=) c.*1024G= (n.*1024G=) c.1760G= (p.Arg587=) c.*762G= (n.*762G=) c.1004G= (p.Arg335=) | |
| 12 | g.108530189C>G | CA386436825 | SART3 | c.1922G>C (p.Arg641Pro) c.1868G>C (p.Arg623Pro) c.*1024G>C (n.*1024G>C) c.1760G>C (p.Arg587Pro) c.*762G>C (n.*762G>C) c.1004G>C (p.Arg335Pro) | |
| 12 | g.108530189C>T | CA6767985 | SART3 | c.1922G>A (p.Arg641His) c.1868G>A (p.Arg623His) c.*1024G>A (n.*1024G>A) c.1760G>A (p.Arg587His) c.*762G>A (n.*762G>A) c.1004G>A (p.Arg335His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.108530190G>A | CA6767986 | SART3 | c.1921C>T (p.Arg641Cys) c.1867C>T (p.Arg623Cys) c.*1023C>T (n.*1023C>T) c.1759C>T (p.Arg587Cys) c.*761C>T (n.*761C>T) c.1003C>T (p.Arg335Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530190G>C | CA386436830 | SART3 | c.1921C>G (p.Arg641Gly) c.1867C>G (p.Arg623Gly) c.*1023C>G (n.*1023C>G) c.1759C>G (p.Arg587Gly) c.*761C>G (n.*761C>G) c.1003C>G (p.Arg335Gly) | |
| 12 | g.108530190G= | CA2061986518 | SART3 | c.1921C= (p.Arg641=) c.1867C= (p.Arg623=) c.*1023C= (n.*1023C=) c.1759C= (p.Arg587=) c.*761C= (n.*761C=) c.1003C= (p.Arg335=) | |
| 12 | g.108530190G>T | CA386436832 | SART3 | c.1921C>A (p.Arg641Ser) c.1867C>A (p.Arg623Ser) c.*1023C>A (n.*1023C>A) c.1759C>A (p.Arg587Ser) c.*761C>A (n.*761C>A) c.1003C>A (p.Arg335Ser) | |
| 12 | g.108530191C>A | CA386436835 | SART3 | c.1920G>T (p.Lys640Asn) c.1866G>T (p.Lys622Asn) c.*1022G>T (n.*1022G>T) c.1758G>T (p.Lys586Asn) c.*760G>T (n.*760G>T) c.1002G>T (p.Lys334Asn) | |
| 12 | g.108530191C= | CA2061986522 | SART3 | c.1920G= (p.Lys640=) c.1866G= (p.Lys622=) c.*1022G= (n.*1022G=) c.1758G= (p.Lys586=) c.*760G= (n.*760G=) c.1002G= (p.Lys334=) | |
| 12 | g.108530191C>G | CA386436838 | SART3 | c.1920G>C (p.Lys640Asn) c.1866G>C (p.Lys622Asn) c.*1022G>C (n.*1022G>C) c.1758G>C (p.Lys586Asn) c.*760G>C (n.*760G>C) c.1002G>C (p.Lys334Asn) | dbSNP gnomAD v4 |
| 12 | g.108530191C>T | CA6767987 | SART3 | c.1920G>A (p.Lys640=) c.1866G>A (p.Lys622=) c.*1022G>A (n.*1022G>A) c.1758G>A (p.Lys586=) c.*760G>A (n.*760G>A) c.1002G>A (p.Lys334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.108530192T>A | CA386436848 | SART3 | c.1919A>T (p.Lys640Met) c.1865A>T (p.Lys622Met) c.*1021A>T (n.*1021A>T) c.1757A>T (p.Lys586Met) c.*759A>T (n.*759A>T) c.1001A>T (p.Lys334Met) | |
| 12 | g.108530192T>C | CA6767988 | SART3 | c.1919A>G (p.Lys640Arg) c.1865A>G (p.Lys622Arg) c.*1021A>G (n.*1021A>G) c.1757A>G (p.Lys586Arg) c.*759A>G (n.*759A>G) c.1001A>G (p.Lys334Arg) | dbSNP ExAC gnomAD v2 |
| 12 | g.108530192T>G | CA386436846 | SART3 | c.1919A>C (p.Lys640Thr) c.1865A>C (p.Lys622Thr) c.*1021A>C (n.*1021A>C) c.1757A>C (p.Lys586Thr) c.*759A>C (n.*759A>C) c.1001A>C (p.Lys334Thr) | gnomAD v4 |
| 12 | g.108530192T= | CA2061986525 | SART3 | c.1919A= (p.Lys640=) c.1865A= (p.Lys622=) c.*1021A= (n.*1021A=) c.1757A= (p.Lys586=) c.*759A= (n.*759A=) c.1001A= (p.Lys334=) | |
| 12 | g.108530193T>A | CA386436850 | SART3 | c.1918A>T (p.Lys640Ter) c.1864A>T (p.Lys622Ter) c.*1020A>T (n.*1020A>T) c.1756A>T (p.Lys586Ter) c.*758A>T (n.*758A>T) c.1000A>T (p.Lys334Ter) | dbSNP |
| 12 | g.108530193T>C | CA386436852 | SART3 | c.1918A>G (p.Lys640Glu) c.1864A>G (p.Lys622Glu) c.*1020A>G (n.*1020A>G) c.1756A>G (p.Lys586Glu) c.*758A>G (n.*758A>G) c.1000A>G (p.Lys334Glu) | |
| 12 | g.108530193T>G | CA386436855 | SART3 | c.1918A>C (p.Lys640Gln) c.1864A>C (p.Lys622Gln) c.*1020A>C (n.*1020A>C) c.1756A>C (p.Lys586Gln) c.*758A>C (n.*758A>C) c.1000A>C (p.Lys334Gln) | |
| 12 | g.108530194C>A | CA6767989 | SART3 | c.1917G>T (p.Glu639Asp) c.1863G>T (p.Glu621Asp) c.*1019G>T (n.*1019G>T) c.1755G>T (p.Glu585Asp) c.*757G>T (n.*757G>T) c.999G>T (p.Glu333Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.108530194C= | CA2061986530 | SART3 | c.1917G= (p.Glu639=) c.1863G= (p.Glu621=) c.*1019G= (n.*1019G=) c.1755G= (p.Glu585=) c.*757G= (n.*757G=) c.999G= (p.Glu333=) | |
| 12 | g.108530194C>G | CA386436859 | SART3 | c.1917G>C (p.Glu639Asp) c.1863G>C (p.Glu621Asp) c.*1019G>C (n.*1019G>C) c.1755G>C (p.Glu585Asp) c.*757G>C (n.*757G>C) c.999G>C (p.Glu333Asp) | |
| 12 | g.108530194C>T | CA481670133 | SART3 | c.1917G>A (p.Glu639=) c.1863G>A (p.Glu621=) c.*1019G>A (n.*1019G>A) c.1755G>A (p.Glu585=) c.*757G>A (n.*757G>A) c.999G>A (p.Glu333=) |