| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.18269327T>A | CA379505042 | SAA1 | c.224T>A (p.Val75Glu) | gnomAD v3 gnomAD v4 |
| 11 | g.18269327T>C | CA5909473 | SAA1 | c.224T>C (p.Val75Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269327T>G | CA379505049 | SAA1 | c.224T>G (p.Val75Gly) | gnomAD v3 gnomAD v4 |
| 11 | g.18269327T= | CA1955523733 | SAA1 | c.224T= (p.Val75=) | |
| 11 | g.18269328G>A | CA473367123 | SAA1 | c.225G>A (p.Val75=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269328G>C | CA473367124 | SAA1 | c.225G>C (p.Val75=) | |
| 11 | g.18269328G= | CA1955523734 | SAA1 | c.225G= (p.Val75=) | |
| 11 | g.18269328G>T | CA473367126 | SAA1 | c.225G>T (p.Val75=) | gnomAD v4 |
| 11 | g.18269329A>C | CA379505051 | SAA1 | c.226A>C (p.Ile76Leu) | gnomAD v4 |
| 11 | g.18269329A>G | CA379505060 | SAA1 | c.226A>G (p.Ile76Val) | gnomAD v4 |
| 11 | g.18269329A>T | CA379505052 | SAA1 | c.226A>T (p.Ile76Phe) | |
| 11 | g.18269330T>A | CA379505065 | SAA1 | c.227T>A (p.Ile76Asn) | |
| 11 | g.18269330T>C | CA379505073 | SAA1 | c.227T>C (p.Ile76Thr) | |
| 11 | g.18269330T>G | CA379505071 | SAA1 | c.227T>G (p.Ile76Ser) | |
| 11 | g.18269331C>A | CA5909474 | SAA1 | c.228C>A (p.Ile76=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.18269331C= | CA1955523735 | SAA1 | c.228C= (p.Ile76=) | |
| 11 | g.18269331C>G | CA379505075 | SAA1 | c.228C>G (p.Ile76Met) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.18269331C>T | CA473367135 | SAA1 | c.228C>T (p.Ile76=) | gnomAD v4 |
| 11 | g.18269332A= | CA1955523736 | SAA1 | c.229A= (p.Thr77=) c.229A= (p.Ser77=) | |
| 11 | g.18269332A>C | CA379505084 | SAA1 | c.229A>C (p.Thr77Pro) c.229A>C (p.Ser77Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.18269332A>G | CA5909475 | SAA1 | c.229A>G (p.Thr77Ala) c.229A>G (p.Ser77Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269332A>T | CA379505088 | SAA1 | c.229A>T (p.Thr77Ser) c.229A>T (p.Ser77Cys) | |
| 11 | g.18269334_18269338del | CA2612727138 | SAA1 | c.231_*1del (n.[c.231_*1del;Ter78GlyextTer?]) c.230+1_230+5del | gnomAD v4 |
| 11 | g.18269333C>A | CA379505098 | SAA1 | c.230C>A (p.Thr77Lys) c.230C>A (p.Thr77Asn) | dbSNP gnomAD v4 |
| 11 | g.18269333C= | CA1955523737 | SAA1 | c.230C= (p.Thr77=) | |
| 11 | g.18269333C>G | CA5909476 | SAA1 | c.230C>G (p.Thr77Arg) c.230C>G (p.Thr77Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269333C>T | CA379505112 | SAA1 | c.230C>T (p.Thr77Met) c.230C>T (p.Thr77Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.18269334G>A | CA379505115 | SAA1 | c.231G>A (p.Thr77=) c.230+1G>A (n.230+1G>A) | gnomAD v4 |
| 11 | g.18269334G>C | CA379505116 | SAA1 | c.231G>C (p.Thr77=) c.230+1G>C (n.230+1G>C) | dbSNP gnomAD v4 |
| 11 | g.18269334G= | CA1955523738 | SAA1 | c.231G= (p.Thr77=) c.230+1G= (n.230+1G=) | |
| 11 | g.18269334G>T | CA379505117 | SAA1 | c.231G>T (p.Thr77=) c.230+1G>T (n.230+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.18269335T>A | CA379505120 | SAA1 | c.232T>A (p.Ter78Lys) c.230+2T>A (n.230+2T>A) | gnomAD v4 |
| 11 | g.18269335T>C | CA379505121 | SAA1 | c.232T>C (p.Ter78Gln) c.230+2T>C (n.230+2T>C) | dbSNP gnomAD v4 |
| 11 | g.18269335T>G | CA379505123 | SAA1 | c.232T>G (p.Ter78Glu) c.230+2T>G (n.230+2T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269335T= | CA1955523739 | SAA1 | c.232T= (p.Ter78=) c.230+2T= (n.230+2T=) | |
| 11 | g.18269336A= | CA1955523740 | SAA1 | c.233A= (p.Ter78=) c.230+3A= (n.230+3A=) | |
| 11 | g.18269336A>C | CA5909477 | SAA1 | c.233A>C (p.Ter78Ser) c.230+3A>C (n.230+3A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.18269336A>G | CA674301800 | SAA1 | c.233A>G (p.Ter78=) c.230+3A>G (n.230+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.18269337A= | CA1955523741 | SAA1 | c.234A= (p.Ter78=) c.230+4A= (n.230+4A=) | |
| 11 | g.18269337A>C | CA2612727146 | SAA1 | c.234A>C (p.Ter78Tyr) c.230+4A>C (n.230+4A>C) | gnomAD v4 |
| 11 | g.18269337A>G | CA5909478 | SAA1 | c.234A>G (p.Ter78=) c.230+4A>G (n.230+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.18269338C>A | CA2612727148 | SAA1 | c.*1C>A (n.*1C>A) c.230+5C>A (n.230+5C>A) | gnomAD v4 |
| 11 | g.18269338C= | CA1955523742 | SAA1 | c.*1C= (n.*1C=) c.230+5C= (n.230+5C=) | |
| 11 | g.18269338C>G | CA1955523743 | SAA1 | c.*1C>G (n.*1C>G) c.230+5C>G (n.230+5C>G) | dbSNP gnomAD v4 |
| 11 | g.18269338C>T | CA2741153286 | SAA1 | c.*1C>T (n.*1C>T) c.230+5C>T (n.230+5C>T) | |
| 11 | g.18269339T>C | CA2612727149 | SAA1 | c.*2T>C (n.*2T>C) c.230+6T>C (n.230+6T>C) | gnomAD v4 |
| 11 | g.18269339T>G | CA2612727150 | SAA1 | c.*2T>G (n.*2T>G) c.230+6T>G (n.230+6T>G) | gnomAD v4 |
| 11 | g.18269340G>A | CA2612727151 | SAA1 | c.*3G>A (n.*3G>A) c.230+7G>A (n.230+7G>A) | gnomAD v4 |
| 11 | g.18269341G>A | CA2612727152 | SAA1 | c.*4G>A (n.*4G>A) c.230+8G>A (n.230+8G>A) | gnomAD v4 |
| 11 | g.18269341G>C | CA2612727153 | SAA1 | c.*4G>C (n.*4G>C) c.230+8G>C (n.230+8G>C) | gnomAD v4 |