| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7579919A= | CA1608615170 | DSP | c.3729A= (p.Ser1243=) c.3582+147A= (n.3582+147A=) | |
| 6 | g.7579919A>C | CA448714681 | DSP | c.3729A>C (p.Ser1243=) c.3582+147A>C (n.3582+147A>C) | |
| 6 | g.7579919A>G | CA038842 | DSP | c.3729A>G (p.Ser1243=) c.3582+147A>G (n.3582+147A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579919A>T | CA448714686 | DSP | c.3729A>T (p.Ser1243=) c.3582+147A>T (n.3582+147A>T) | |
| 6 | g.7579920A>C | CA448714688 | DSP | c.3730A>C (p.Arg1244=) c.3582+148A>C (n.3582+148A>C) | |
| 6 | g.7579920A>G | CA362684730 | DSP | c.3730A>G (p.Arg1244Gly) c.3582+148A>G (n.3582+148A>G) | ClinVar dbSNP |
| 6 | g.7579920A>T | CA362684731 | DSP | c.3730A>T (p.Arg1244Trp) c.3582+148A>T (n.3582+148A>T) | |
| 6 | g.7579920_7579921delinsAG | CA1608615179 | DSP | c.3730_3731delinsAG (p.Arg1244=) c.3582+148_3582+149delinsAG (n.3582+148_3582+149delinsAG) | |
| 6 | g.7579921G>A | CA362684732 | DSP | c.3731G>A (p.Arg1244Lys) c.3582+149G>A (n.3582+149G>A) | dbSNP |
| 6 | g.7579921G>C | CA362684733 | DSP | c.3731G>C (p.Arg1244Thr) c.3582+149G>C (n.3582+149G>C) | COSMIC |
| 6 | g.7579921G= | CA1608615191 | DSP | c.3731G= (p.Arg1244=) c.3582+149G= (n.3582+149G=) | |
| 6 | g.7579921G>T | CA362684734 | DSP | c.3731G>T (p.Arg1244Met) c.3582+149G>T (n.3582+149G>T) | |
| 6 | g.7579923del | CA005899 | DSP | c.3733del (p.Glu1245LysfsTer5) c.3582+151del (n.3582+151del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579922G>A | CA448714695 | DSP | c.3732G>A (p.Arg1244=) c.3582+150G>A (n.3582+150G>A) | |
| 6 | g.7579922G>C | CA362684735 | DSP | c.3732G>C (p.Arg1244Ser) c.3582+150G>C (n.3582+150G>C) | |
| 6 | g.7579922G= | CA1608615196 | DSP | c.3732G= (p.Arg1244=) c.3582+150G= (n.3582+150G=) | |
| 6 | g.7579922G>T | CA362684736 | DSP | c.3732G>T (p.Arg1244Ser) c.3582+150G>T (n.3582+150G>T) | |
| 6 | g.7579923G>A | CA362684739 | DSP | c.3733G>A (p.Glu1245Lys) c.3582+151G>A (n.3582+151G>A) | gnomAD v4 |
| 6 | g.7579923G>C | CA362684738 | DSP | c.3733G>C (p.Glu1245Gln) c.3582+151G>C (n.3582+151G>C) | |
| 6 | g.7579923G>T | CA362684737 | DSP | c.3733G>T (p.Glu1245Ter) c.3582+151G>T (n.3582+151G>T) | |
| 6 | g.7579925_7579931dup | CA303944 | DSP | c.3735_3741dup (p.Asp1248LysfsTer7) c.3582+153_3582+159dup (n.3582+153_3582+159dup) | ClinVar dbSNP ExAC gnomAD v4 |
| 6 | g.7579924A>C | CA362684742 | DSP | c.3734A>C (p.Glu1245Ala) c.3582+152A>C (n.3582+152A>C) | |
| 6 | g.7579924A>G | CA362684740 | DSP | c.3734A>G (p.Glu1245Gly) c.3582+152A>G (n.3582+152A>G) | |
| 6 | g.7579924A>T | CA362684741 | DSP | c.3734A>T (p.Glu1245Val) c.3582+152A>T (n.3582+152A>T) | |
| 6 | g.7579927dup | CA2695206009 | DSP | c.3737dup (p.Asn1246LysfsTer7) c.3582+155dup (n.3582+155dup) | |
| 6 | g.7579925A= | CA1608615203 | DSP | c.3735A= (p.Glu1245=) c.3582+153A= (n.3582+153A=) | |
| 6 | g.7579925A>C | CA362684743 | DSP | c.3735A>C (p.Glu1245Asp) c.3582+153A>C (n.3582+153A>C) | |
| 6 | g.7579925A>G | CA448714704 | DSP | c.3735A>G (p.Glu1245=) c.3582+153A>G (n.3582+153A>G) | dbSNP gnomAD v4 |
| 6 | g.7579925A>T | CA362684744 | DSP | c.3735A>T (p.Glu1245Asp) c.3582+153A>T (n.3582+153A>T) | |
| 6 | g.7579926A>C | CA362684745 | DSP | c.3736A>C (p.Asn1246His) c.3582+154A>C (n.3582+154A>C) | |
| 6 | g.7579926A>G | CA362684746 | DSP | c.3736A>G (p.Asn1246Asp) c.3582+154A>G (n.3582+154A>G) | |
| 6 | g.7579926A>T | CA362684747 | DSP | c.3736A>T (p.Asn1246Tyr) c.3582+154A>T (n.3582+154A>T) | |
| 6 | g.7579927A>C | CA362684748 | DSP | c.3737A>C (p.Asn1246Thr) c.3582+155A>C (n.3582+155A>C) | |
| 6 | g.7579927A>G | CA362684749 | DSP | c.3737A>G (p.Asn1246Ser) c.3582+155A>G (n.3582+155A>G) | |
| 6 | g.7579927A>T | CA362684750 | DSP | c.3737A>T (p.Asn1246Ile) c.3582+155A>T (n.3582+155A>T) | |
| 6 | g.7579928T>A | CA362684751 | DSP | c.3738T>A (p.Asn1246Lys) c.3582+156T>A (n.3582+156T>A) | |
| 6 | g.7579928T>C | CA448714711 | DSP | c.3738T>C (p.Asn1246=) c.3582+156T>C (n.3582+156T>C) | ClinVar gnomAD v4 |
| 6 | g.7579928T>G | CA362684752 | DSP | c.3738T>G (p.Asn1246Lys) c.3582+156T>G (n.3582+156T>G) | |
| 6 | g.7579929C>A | CA448714712 | DSP | c.3739C>A (p.Arg1247=) c.3582+157C>A (n.3582+157C>A) | |
| 6 | g.7579929C= | CA1608615207 | DSP | c.3739C= (p.Arg1247=) c.3582+157C= (n.3582+157C=) | |
| 6 | g.7579929C>G | CA362684753 | DSP | c.3739C>G (p.Arg1247Gly) c.3582+157C>G (n.3582+157C>G) | |
| 6 | g.7579929C>T | CA362684754 | DSP | c.3739C>T (p.Arg1247Ter) c.3582+157C>T (n.3582+157C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7579930G>A | CA10584679 | DSP | c.3740G>A (p.Arg1247Gln) c.3582+158G>A (n.3582+158G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579930G>C | CA362684755 | DSP | c.3740G>C (p.Arg1247Pro) c.3582+158G>C (n.3582+158G>C) | dbSNP |
| 6 | g.7579930G= | CA1608615215 | DSP | c.3740G= (p.Arg1247=) c.3582+158G= (n.3582+158G=) | |
| 6 | g.7579930G>T | CA362684756 | DSP | c.3740G>T (p.Arg1247Leu) c.3582+158G>T (n.3582+158G>T) | |
| 6 | g.7579931A= | CA1608615220 | DSP | c.3741A= (p.Arg1247=) c.3582+159A= (n.3582+159A=) | |
| 6 | g.7579931A>C | CA448714720 | DSP | c.3741A>C (p.Arg1247=) c.3582+159A>C (n.3582+159A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579931A>G | CA448714721 | DSP | c.3741A>G (p.Arg1247=) c.3582+159A>G (n.3582+159A>G) | |
| 6 | g.7579931A>T | CA448714722 | DSP | c.3741A>T (p.Arg1247=) c.3582+159A>T (n.3582+159A>T) |