| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7568550_7568553delinsCATT | CA1608623137 | DSP | c.1380_1383delinsCATT (p.Pro460=) | |
| 6 | g.7568551A>C | CA362676638 | DSP | c.1381A>C (p.Ile461Leu) | |
| 6 | g.7568551A>G | CA362676639 | DSP | c.1381A>G (p.Ile461Val) | gnomAD v4 |
| 6 | g.7568551A>T | CA362676641 | DSP | c.1381A>T (p.Ile461Phe) | |
| 6 | g.7568554_7568556del | CA004913 | DSP | c.1384_1386del (p.Ile462del) | ClinVar dbSNP |
| 6 | g.7568552T>A | CA362676644 | DSP | c.1382T>A (p.Ile461Asn) | |
| 6 | g.7568552T>C | CA362676645 | DSP | c.1382T>C (p.Ile461Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7568552T>G | CA362676649 | DSP | c.1382T>G (p.Ile461Ser) | |
| 6 | g.7568552T= | CA1608623145 | DSP | c.1382T= (p.Ile461=) | |
| 6 | g.7568553T>A | CA448522090 | DSP | c.1383T>A (p.Ile461=) | |
| 6 | g.7568553T>C | CA448522093 | DSP | c.1383T>C (p.Ile461=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7568553T>G | CA362676652 | DSP | c.1383T>G (p.Ile461Met) | |
| 6 | g.7568553T= | CA1608623149 | DSP | c.1383T= (p.Ile461=) | |
| 6 | g.7568554A>C | CA362676656 | DSP | c.1384A>C (p.Ile462Leu) | |
| 6 | g.7568554A>G | CA362676655 | DSP | c.1384A>G (p.Ile462Val) | |
| 6 | g.7568554A>T | CA362676654 | DSP | c.1384A>T (p.Ile462Phe) | |
| 6 | g.7568554_7568555delinsAT | CA1608623151 | DSP | c.1384_1385delinsAT (p.Ile462=) | |
| 6 | g.7568555T>A | CA362676657 | DSP | c.1385T>A (p.Ile462Asn) | |
| 6 | g.7568555T>C | CA362676658 | DSP | c.1385T>C (p.Ile462Thr) | |
| 6 | g.7568555T>G | CA362676660 | DSP | c.1385T>G (p.Ile462Ser) | gnomAD v4 |
| 6 | g.7568556del | CA913187583 | DSP | c.1386del (p.Leu463SerfsTer22) | ClinVar dbSNP |
| 6 | g.7568556T>A | CA448522098 | DSP | c.1386T>A (p.Ile462=) | |
| 6 | g.7568556T>C | CA448522104 | DSP | c.1386T>C (p.Ile462=) | dbSNP gnomAD v4 |
| 6 | g.7568556T>G | CA362676661 | DSP | c.1386T>G (p.Ile462Met) | |
| 6 | g.7568556T= | CA1608623159 | DSP | c.1386T= (p.Ile462=) | |
| 6 | g.7568556_7568559del | CA2677222923 | DSP | c.1386_1389del (p.Leu463GlufsTer21) | ClinVar gnomAD v4 |
| 6 | g.7568557C>A | CA362676673 | DSP | c.1387C>A (p.Leu463Ile) | |
| 6 | g.7568557C>G | CA362676674 | DSP | c.1387C>G (p.Leu463Val) | |
| 6 | g.7568557C>T | CA362676675 | DSP | c.1387C>T (p.Leu463Phe) | |
| 6 | g.7568558T>A | CA362676678 | DSP | c.1388T>A (p.Leu463His) | |
| 6 | g.7568558T>C | CA362676681 | DSP | c.1388T>C (p.Leu463Pro) | ClinVar dbSNP |
| 6 | g.7568558T>G | CA362676685 | DSP | c.1388T>G (p.Leu463Arg) | |
| 6 | g.7568558T= | CA1608623163 | DSP | c.1388T= (p.Leu463=) | |
| 6 | g.7568559C>A | CA448522116 | DSP | c.1389C>A (p.Leu463=) | |
| 6 | g.7568559C>G | CA448522118 | DSP | c.1389C>G (p.Leu463=) | |
| 6 | g.7568559C>T | CA448522120 | DSP | c.1389C>T (p.Leu463=) | |
| 6 | g.7568560A>C | CA448522122 | DSP | c.1390A>C (p.Arg464=) | |
| 6 | g.7568560A>G | CA362676692 | DSP | c.1390A>G (p.Arg464Gly) | |
| 6 | g.7568560A>T | CA362676694 | DSP | c.1390A>T (p.Arg464Ter) | |
| 6 | g.7568561G>A | CA362676697 | DSP | c.1391G>A (p.Arg464Lys) | |
| 6 | g.7568561G>C | CA362676707 | DSP | c.1391G>C (p.Arg464Thr) | |
| 6 | g.7568561G>T | CA362676700 | DSP | c.1391G>T (p.Arg464Ile) | |
| 6 | g.7568562A= | CA1608623173 | DSP | c.1392A= (p.Arg464=) | |
| 6 | g.7568562A>C | CA362676709 | DSP | c.1392A>C (p.Arg464Ser) | ClinVar dbSNP |
| 6 | g.7568562A>G | CA448522137 | DSP | c.1392A>G (p.Arg464=) | |
| 6 | g.7568562A>T | CA362676712 | DSP | c.1392A>T (p.Arg464Ser) | |
| 6 | g.7568563G>A | CA362676715 | DSP | c.1393G>A (p.Ala465Thr) | |
| 6 | g.7568563G>C | CA362676717 | DSP | c.1393G>C (p.Ala465Pro) | |
| 6 | g.7568563G>T | CA362676719 | DSP | c.1393G>T (p.Ala465Ser) | |
| 6 | g.7568564C>A | CA362676721 | DSP | c.1394C>A (p.Ala465Asp) |