| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.87709211T>A | CA377485163 | PAPSS2 | c.43T>A (p.Ser15Thr) n.65T>A n.86T>A | |
| 10 | g.87709211T>C | CA377485164 | PAPSS2 | c.43T>C (p.Ser15Pro) n.65T>C n.86T>C | gnomAD v4 |
| 10 | g.87709211T>G | CA377485165 | PAPSS2 | c.43T>G (p.Ser15Ala) n.65T>G n.86T>G | |
| 10 | g.87709212C>A | CA377485166 | PAPSS2 | c.44C>A (p.Ser15Tyr) n.66C>A n.87C>A | dbSNP gnomAD v4 |
| 10 | g.87709212C>G | CA377485168 | PAPSS2 | c.44C>G (p.Ser15Cys) n.66C>G n.87C>G | |
| 10 | g.87709212C>T | CA377485167 | PAPSS2 | c.44C>T (p.Ser15Phe) n.66C>T n.87C>T | |
| 10 | g.87709213C>A | CA470662893 | PAPSS2 | c.45C>A (p.Ser15=) n.67C>A n.88C>A | gnomAD v4 |
| 10 | g.87709213C>G | CA470662894 | PAPSS2 | c.45C>G (p.Ser15=) n.67C>G n.88C>G | |
| 10 | g.87709213C>T | CA470662895 | PAPSS2 | c.45C>T (p.Ser15=) n.67C>T n.88C>T | |
| 10 | g.87709214A= | CA1926073282 | PAPSS2 | c.46A= (p.Thr16=) n.68A= n.89A= | |
| 10 | g.87709214A>C | CA377485169 | PAPSS2 | c.46A>C (p.Thr16Pro) n.68A>C n.89A>C | |
| 10 | g.87709214A>G | CA5589333 | PAPSS2 | c.46A>G (p.Thr16Ala) n.68A>G n.89A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87709214A>T | CA377485170 | PAPSS2 | c.46A>T (p.Thr16Ser) n.68A>T n.89A>T | |
| 10 | g.87709215C>A | CA377485171 | PAPSS2 | c.47C>A (p.Thr16Asn) n.69C>A n.90C>A | |
| 10 | g.87709215C= | CA1926073283 | PAPSS2 | c.47C= (p.Thr16=) n.69C= n.90C= | |
| 10 | g.87709215C>G | CA211255359 | PAPSS2 | c.47C>G (p.Thr16Ser) n.69C>G n.90C>G | dbSNP |
| 10 | g.87709215C>T | CA377485172 | PAPSS2 | c.47C>T (p.Thr16Ile) n.69C>T n.90C>T | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.87709216del | CA2610034484 | PAPSS2 | c.48del (p.Asn17MetfsTer2) n.70del n.91del | gnomAD v4 |
| 10 | g.87709216C>A | CA470662900 | PAPSS2 | c.48C>A (p.Thr16=) n.70C>A n.91C>A | gnomAD v4 |
| 10 | g.87709216C= | CA1926073284 | PAPSS2 | c.48C= (p.Thr16=) n.70C= n.91C= | |
| 10 | g.87709216C>G | CA5589334 | PAPSS2 | c.48C>G (p.Thr16=) n.70C>G n.91C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87709216C>T | CA470662902 | PAPSS2 | c.48C>T (p.Thr16=) n.70C>T n.91C>T | |
| 10 | g.87709217A= | CA1926073285 | PAPSS2 | c.49A= (p.Asn17=) n.71A= n.92A= | |
| 10 | g.87709217A>C | CA5589336 | PAPSS2 | c.49A>C (p.Asn17His) n.71A>C n.92A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87709217A>G | CA5589335 | PAPSS2 | c.49A>G (p.Asn17Asp) n.71A>G n.92A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87709217A>T | CA377485173 | PAPSS2 | c.49A>T (p.Asn17Tyr) n.71A>T n.92A>T | |
| 10 | g.87709218del | CA2574602521 | PAPSS2 | c.50del (p.Asn17MetfsTer2) n.72del n.93del | |
| 10 | g.87709218A= | CA1926073286 | PAPSS2 | c.50A= (p.Asn17=) n.72A= n.93A= | |
| 10 | g.87709218A>C | CA377485175 | PAPSS2 | c.50A>C (p.Asn17Thr) n.72A>C n.93A>C | |
| 10 | g.87709218A>G | CA5589337 | PAPSS2 | c.50A>G (p.Asn17Ser) n.72A>G n.93A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.87709218A>T | CA377485174 | PAPSS2 | c.50A>T (p.Asn17Ile) n.72A>T n.93A>T | |
| 10 | g.87709219T>A | CA377485177 | PAPSS2 | c.51T>A (p.Asn17Lys) n.73T>A n.94T>A | |
| 10 | g.87709219T>C | CA470662915 | PAPSS2 | c.51T>C (p.Asn17=) n.73T>C n.94T>C | dbSNP |
| 10 | g.87709219T>G | CA377485176 | PAPSS2 | c.51T>G (p.Asn17Lys) n.73T>G n.94T>G | |
| 10 | g.87709219T= | CA1926073287 | PAPSS2 | c.51T= (p.Asn17=) n.73T= n.94T= | |
| 10 | g.87709220G>A | CA5589338 | PAPSS2 | c.52G>A (p.Val18Ile) n.74G>A n.95G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.87709220G>C | CA377485178 | PAPSS2 | c.52G>C (p.Val18Leu) n.74G>C n.95G>C | |
| 10 | g.87709220G= | CA1926073288 | PAPSS2 | c.52G= (p.Val18=) n.74G= n.95G= | |
| 10 | g.87709220G>T | CA377485179 | PAPSS2 | c.52G>T (p.Val18Leu) n.74G>T n.95G>T | COSMIC |
| 10 | g.87709221T>A | CA377485180 | PAPSS2 | c.53T>A (p.Val18Glu) n.75T>A n.96T>A | |
| 10 | g.87709221T>C | CA377485181 | PAPSS2 | c.53T>C (p.Val18Ala) n.75T>C n.96T>C | |
| 10 | g.87709221T>G | CA377485182 | PAPSS2 | c.53T>G (p.Val18Gly) n.75T>G n.96T>G | |
| 10 | g.87709222A= | CA1926073289 | PAPSS2 | c.54A= (p.Val18=) n.76A= n.97A= | |
| 10 | g.87709222A>C | CA211255404 | PAPSS2 | c.54A>C (p.Val18=) n.76A>C n.97A>C | dbSNP |
| 10 | g.87709222A>G | CA470662937 | PAPSS2 | c.54A>G (p.Val18=) n.76A>G n.97A>G | |
| 10 | g.87709222A>T | CA470662939 | PAPSS2 | c.54A>T (p.Val18=) n.76A>T n.97A>T | |
| 10 | g.87709223G>A | CA377485183 | PAPSS2 | c.55G>A (p.Val19Ile) n.77G>A n.98G>A | |
| 10 | g.87709223G>C | CA377485184 | PAPSS2 | c.55G>C (p.Val19Leu) n.77G>C n.98G>C | |
| 10 | g.87709223G>T | CA377485185 | PAPSS2 | c.55G>T (p.Val19Phe) n.77G>T n.98G>T | |
| 10 | g.87709224T>A | CA377485186 | PAPSS2 | c.56T>A (p.Val19Asp) n.78T>A n.99T>A |