| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583581G>A | CA362690543 | DSP | c.4990G>A (p.Val1664Ile) c.6319G>A (p.Val2107Ile) c.4522G>A (p.Val1508Ile) | |
| 6 | g.7583581G>C | CA006855 | DSP | c.4990G>C (p.Val1664Leu) c.6319G>C (p.Val2107Leu) c.4522G>C (p.Val1508Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583581G= | CA1608608572 | DSP | c.4990G= (p.Val1664=) c.6319G= (p.Val2107=) c.4522G= (p.Val1508=) | |
| 6 | g.7583581G>T | CA362690544 | DSP | c.4990G>T (p.Val1664Phe) c.6319G>T (p.Val2107Phe) c.4522G>T (p.Val1508Phe) | |
| 6 | g.7583582T>A | CA362690547 | DSP | c.4991T>A (p.Val1664Asp) c.6320T>A (p.Val2107Asp) c.4523T>A (p.Val1508Asp) | |
| 6 | g.7583582T>C | CA362690545 | DSP | c.4991T>C (p.Val1664Ala) c.6320T>C (p.Val2107Ala) c.4523T>C (p.Val1508Ala) | |
| 6 | g.7583582T>G | CA362690546 | DSP | c.4991T>G (p.Val1664Gly) c.6320T>G (p.Val2107Gly) c.4523T>G (p.Val1508Gly) | |
| 6 | g.7583583T>A | CA448716122 | DSP | c.4992T>A (p.Val1664=) c.6321T>A (p.Val2107=) c.4524T>A (p.Val1508=) | |
| 6 | g.7583583T>C | CA448716124 | DSP | c.4992T>C (p.Val1664=) c.6321T>C (p.Val2107=) c.4524T>C (p.Val1508=) | |
| 6 | g.7583583T>G | CA448716123 | DSP | c.4992T>G (p.Val1664=) c.6321T>G (p.Val2107=) c.4524T>G (p.Val1508=) | |
| 6 | g.7583584T>A | CA362690548 | DSP | c.4993T>A (p.Ser1665Thr) c.6322T>A (p.Ser2108Thr) c.4525T>A (p.Ser1509Thr) | |
| 6 | g.7583584T>C | CA362690549 | DSP | c.4993T>C (p.Ser1665Pro) c.6322T>C (p.Ser2108Pro) c.4525T>C (p.Ser1509Pro) | |
| 6 | g.7583584T>G | CA362690550 | DSP | c.4993T>G (p.Ser1665Ala) c.6322T>G (p.Ser2108Ala) c.4525T>G (p.Ser1509Ala) | gnomAD v4 |
| 6 | g.7583585C>A | CA362690551 | DSP | c.4994C>A (p.Ser1665Ter) c.6323C>A (p.Ser2108Ter) c.4526C>A (p.Ser1509Ter) | dbSNP |
| 6 | g.7583585C= | CA1608608578 | DSP | c.4994C= (p.Ser1665=) c.6323C= (p.Ser2108=) c.4526C= (p.Ser1509=) | |
| 6 | g.7583585C>G | CA362690552 | DSP | c.4994C>G (p.Ser1665Ter) c.6323C>G (p.Ser2108Ter) c.4526C>G (p.Ser1509Ter) | gnomAD v4 |
| 6 | g.7583585C>T | CA362690553 | DSP | c.4994C>T (p.Ser1665Leu) c.6323C>T (p.Ser2108Leu) c.4526C>T (p.Ser1509Leu) | |
| 6 | g.7583586A>C | CA448716129 | DSP | c.4995A>C (p.Ser1665=) c.6324A>C (p.Ser2108=) c.4527A>C (p.Ser1509=) | |
| 6 | g.7583586A>G | CA448716130 | DSP | c.4995A>G (p.Ser1665=) c.6324A>G (p.Ser2108=) c.4527A>G (p.Ser1509=) | |
| 6 | g.7583586A>T | CA448716131 | DSP | c.4995A>T (p.Ser1665=) c.6324A>T (p.Ser2108=) c.4527A>T (p.Ser1509=) | |
| 6 | g.7583587G>A | CA006863 | DSP | c.4996G>A (p.Glu1666Lys) c.6325G>A (p.Glu2109Lys) c.4528G>A (p.Glu1510Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583587G>C | CA362690554 | DSP | c.4996G>C (p.Glu1666Gln) c.6325G>C (p.Glu2109Gln) c.4528G>C (p.Glu1510Gln) | |
| 6 | g.7583587G= | CA1608608587 | DSP | c.4996G= (p.Glu1666=) c.6325G= (p.Glu2109=) c.4528G= (p.Glu1510=) | |
| 6 | g.7583587G>T | CA362690555 | DSP | c.4996G>T (p.Glu1666Ter) c.6325G>T (p.Glu2109Ter) c.4528G>T (p.Glu1510Ter) | |
| 6 | g.7583588A>C | CA362690556 | DSP | c.4997A>C (p.Glu1666Ala) c.6326A>C (p.Glu2109Ala) c.4529A>C (p.Glu1510Ala) | |
| 6 | g.7583588A>G | CA362690557 | DSP | c.4997A>G (p.Glu1666Gly) c.6326A>G (p.Glu2109Gly) c.4529A>G (p.Glu1510Gly) | |
| 6 | g.7583588A>T | CA362690558 | DSP | c.4997A>T (p.Glu1666Val) c.6326A>T (p.Glu2109Val) c.4529A>T (p.Glu1510Val) | |
| 6 | g.7583589A>C | CA362690559 | DSP | c.4998A>C (p.Glu1666Asp) c.6327A>C (p.Glu2109Asp) c.4530A>C (p.Glu1510Asp) | gnomAD v4 |
| 6 | g.7583589A>G | CA448716135 | DSP | c.4998A>G (p.Glu1666=) c.6327A>G (p.Glu2109=) c.4530A>G (p.Glu1510=) | |
| 6 | g.7583589A>T | CA362690560 | DSP | c.4998A>T (p.Glu1666Asp) c.6327A>T (p.Glu2109Asp) c.4530A>T (p.Glu1510Asp) | |
| 6 | g.7583590G>A | CA362690561 | DSP | c.4999G>A (p.Ala1667Thr) c.6328G>A (p.Ala2110Thr) c.4531G>A (p.Ala1511Thr) | |
| 6 | g.7583590G>C | CA362690562 | DSP | c.4999G>C (p.Ala1667Pro) c.6328G>C (p.Ala2110Pro) c.4531G>C (p.Ala1511Pro) | gnomAD v4 |
| 6 | g.7583590G>T | CA362690563 | DSP | c.4999G>T (p.Ala1667Ser) c.6328G>T (p.Ala2110Ser) c.4531G>T (p.Ala1511Ser) | ClinVar |
| 6 | g.7583591C>A | CA362690564 | DSP | c.5000C>A (p.Ala1667Asp) c.6329C>A (p.Ala2110Asp) c.4532C>A (p.Ala1511Asp) | |
| 6 | g.7583591C>G | CA362690565 | DSP | c.5000C>G (p.Ala1667Gly) c.6329C>G (p.Ala2110Gly) c.4532C>G (p.Ala1511Gly) | |
| 6 | g.7583591C>T | CA362690566 | DSP | c.5000C>T (p.Ala1667Val) c.6329C>T (p.Ala2110Val) c.4532C>T (p.Ala1511Val) | |
| 6 | g.7583592C>A | CA448716140 | DSP | c.5001C>A (p.Ala1667=) c.6330C>A (p.Ala2110=) c.4533C>A (p.Ala1511=) | |
| 6 | g.7583592C>G | CA448716141 | DSP | c.5001C>G (p.Ala1667=) c.6330C>G (p.Ala2110=) c.4533C>G (p.Ala1511=) | |
| 6 | g.7583592C>T | CA448716142 | DSP | c.5001C>T (p.Ala1667=) c.6330C>T (p.Ala2110=) c.4533C>T (p.Ala1511=) | |
| 6 | g.7583593A>C | CA362690567 | DSP | c.5002A>C (p.Ile1668Leu) c.6331A>C (p.Ile2111Leu) c.4534A>C (p.Ile1512Leu) | |
| 6 | g.7583593A>G | CA362690568 | DSP | c.5002A>G (p.Ile1668Val) c.6331A>G (p.Ile2111Val) c.4534A>G (p.Ile1512Val) | |
| 6 | g.7583593A>T | CA362690569 | DSP | c.5002A>T (p.Ile1668Phe) c.6331A>T (p.Ile2111Phe) c.4534A>T (p.Ile1512Phe) | |
| 6 | g.7583594T>A | CA362690570 | DSP | c.5003T>A (p.Ile1668Asn) c.6332T>A (p.Ile2111Asn) c.4535T>A (p.Ile1512Asn) | gnomAD v4 |
| 6 | g.7583594T>C | CA047335 | DSP | c.5003T>C (p.Ile1668Thr) c.6332T>C (p.Ile2111Thr) c.4535T>C (p.Ile1512Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583594T>G | CA362690571 | DSP | c.5003T>G (p.Ile1668Ser) c.6332T>G (p.Ile2111Ser) c.4535T>G (p.Ile1512Ser) | |
| 6 | g.7583594T= | CA1608608599 | DSP | c.5003T= (p.Ile1668=) c.6332T= (p.Ile2111=) c.4535T= (p.Ile1512=) |